Ret. time (minutes) | From: | To: | ||
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Area (%) | From: | To: |
ID | Hb Variant | Gene | Instrument | Method | Area (%) | Ret Time (min) | Comments | |||
---|---|---|---|---|---|---|---|---|---|---|
ID | Hb Variant | Gene | Instrument | Method | Comments | |||||
5 | Hb I-Interlaken | α1 | VARIANT II | Dual Kit Program | 24.3 | 1.56 | Heterozygous | |||
9 | HbS | β | VARIANT II | Dual Kit Program | 33.7 | 3.47 | Heterozygous / Sickle Cell Trait | [PDF] | ||
17 | HbC | β | VARIANT II | Dual Kit Program | 82.3 | 4.42 | Compound heterozygous with CD 39. Could be confused with HbC homozygous. A2 level and hematological data suggest an associated beta-thal. | [PDF] | ||
38 | HbE | β | VARIANT II | Dual Kit Program | 27.6 | 3.65 | Heterozygous | [PDF] | ||
39 | HbE | β | VARIANT II | Dual Kit Program | 22.4 | 2.969 | Heterozygous | [PDF] | ||
44 | Hb Shelby | β | VARIANT II | Dual Kit Program | 73.6 | 4.74 | Compound heterozygote between Hb Shelby and beta (0) Thal. | [PDF] | ||
47 | HbS | β | VARIANT II | Dual Kit Program | 23.8 | 4.46 | HbS heterozygote with alpha thalassaemia (HbS + alpha-thal 2). | [PDF] | ||
48 | HbS | β | VARIANT II | Dual Kit Program | 21.3 | 3.49 | HbS heterozygote with alpha thalassaemia (HbS + alpha-thal 2). | [PDF] | ||
51 | Hb Siirt | β | VARIANT II | Dual Kit Program | 80.3 | 1.76 | Heterozygote clinically normal, the mild thalassemic syndrome observed may be in relation with the associated alpha gene abnormality (triple alpha). Hb Siirt elutes together with HbA. | [PDF] | ||
53 | Hb G-Honolulu | α1 | VARIANT II | Dual Kit Program | 21.1 | 3.8 | Heterozygous. Clinically normal. Hb G-Honolulu elutes together with HbA2. | [PDF] | ||
54 | Hb G-Honolulu | α1 | VARIANT II | Dual Kit Program | 20.2 | 3.18 | ||||
57 | Hb St. Claude | α1 or α2 | VARIANT II | Dual Kit Program | 22.1 | 1.49 | Heterozygous. Clinically normal. | [PDF] | ||
60 | Hb G-Coushatta | β | VARIANT II | Dual Kit Program | 61.1 | 2.69 | Homozygous or associated with beta (0) thal. | |||
63 | Hb Camden | β | VARIANT II | Dual Kit Program | 50.3 | 0.87 | Clinically normal. Elutes near, or at the position of Hb A1c. | [PDF] | ||
69 | Hb Dhofar | β | VARIANT II | Dual Kit Program | 18.9 | 3.12 | Thalassemic Hb (in cis with a beta (+)-thalassemic mutation). | [PDF] | ||
72 | Hb Pierre-Bénite | β | VARIANT II | Dual Kit Program | 83.2 | 1.753 | This variant displays a high oxygen affinity and leads to erythrocytosis. Elutes as HbA0. | [PDF] | ||
76 | Hb Bicêtre | β | VARIANT II | Dual Kit Program | 83.8 | 1.8 | Unstable variant. Elutes with HbA. | [PDF] | ||
80 | Hb M-Saskatoon | β | VARIANT II | Dual Kit Program | 4.4 | 4.51 | Methemoglobinemia and unstable variant. | [PDF] | ||
84 | Hb Rainier | β | VARIANT II | Dual Kit Program | 72.2 | 1.77 | Increased oxygen affinity leading to erythrocytosis. Elutes as HbA. | [PDF] | ||
88 | Hb J-Baltimore | β | VARIANT II | Dual Kit Program | 43.9 | 1.567 | Clinically normal. | [PDF] | ||
92 | Hb Acharnes | β | VARIANT II | Dual Kit Program | 80.1 | 1.776 | Unstable variant. Chronic hemolytic anemia. Elutes together with HbA0 or as a shoulder in the ascending part. | [PDF] | ||
96 | Hb Chad | α2 | VARIANT II | Dual Kit Program | 20.6 | 4.115 | Heterozygous. Clinically normal. | [PDF] | ||
100 | Hb Roanne | α1 or α2 | VARIANT II | Dual Kit Program | 87.9 | 1.76 | Heterozygote clinically normal. Elutes as HbA. | [PDF] | ||
108 | Hb D-Ouled Rabah | β | VARIANT II | Dual Kit Program | 59.2 | 2.736 | [PDF] | |||
113 | Hb Lyon-Bron | α2 | VARIANT II | Dual Kit Program | 29.9 | 1.502 | Heterozygous. Slightly decreased oxygen affinity, mild anaemia. | [PDF] | ||
117 | Hb Saint-Jacques | β | VARIANT II | Dual Kit Program | 29.6 | 2.316 | Heterozygous. Hb variant with increased oxygen affinity. | [PDF] | ||
119 | Hb Hamilton | β | VARIANT II | Dual Kit Program | 86 | 1.789 | Neutral variant, clinically normal. Elutes together with HbA on CE-HPLC. Abnormal chain could be observed by RP-HPLC. Diagnosis requires DNA studies. | [PDF] | ||
123 | Hb Gerland | α2 | VARIANT II | Dual Kit Program | 8.1 | 2.609 | Heterozygous. Elutes with HbA. Clinically asymptomatic neutral alpha chain variant. | [PDF] | ||
128 | Hb Aubagne | β | VARIANT II | Dual Kit Program | 85.6 | 1.801 | Heterozygous. Unstable variant, mild hemolytic anaemia. Appears as a shoulder in the descending part of HbA0. | [PDF] | ||
132 | Hb Stanleyville-II | α2 | VARIANT II | Dual Kit Program | 32.1 | 3.401 | Heterozygous. Clinically normal. Elutes as HbS. | [PDF] | ||
136 | Hb J-Sardegna | α2 | VARIANT II | Dual Kit Program | 25.4 | 0.676 | Heterozygous. Elutes with HbF. DNA sequencing showed that the mutation leads to an Asn which is totally deamidated. | [PDF] | ||
140 | Hb Russ | α1 | VARIANT II | Dual Kit Program | 16 | 3.483 | Heterozygous. Elutes in HbS window. Clinically normal. | [PDF] | ||
144 | Hb K Woolwich | β | VARIANT II | Dual Kit Program | 37.2 | 0.859 | Clinically and hematologically normal. | [PDF] | ||
148 | Hb Maputo | β | VARIANT II | Dual Kit Program | 40.1 | 2.98 | Clinically normal. Elutes as HbA2. | [PDF] | ||
152 | Hb Brem-sur-Mer | β | VARIANT II | Dual Kit Program | 1.5 | 3.027 | Clinically and hematologically normal. Elutes as HbA. | [PDF] | ||
156 | Hb Fannin-Lubbock II | β | VARIANT II | Dual Kit Program | 36.5 | 1.66 | This variant carries in addition to the mutation of Hb Fannin Lubbock [Gly>Asp] a second neutral mutation [beta Val>Leu] which modifies the retention time in RP-HPLC. Clinically normal. | [PDF] | ||
164 | Hb Malmö | β | VARIANT II | Dual Kit Program | 46.2 | 1.427 | High oxygen affinity variant, leads to erythrocytosis. Elutes together with HbA or before according to the chromatographic system used. | [PDF] | ||
169 | Hb Lombard | α2 | VARIANT II | Dual Kit Program | 87.9 | 1.809 | Heterozygous. Elutes as a shoulder in the descending part of the HbA peak. | [PDF] | ||
173 | Hb J-Tongariki | α1 or α2 | VARIANT II | Dual Kit Program | 21.6 | 1.684 | Heterozygous. Associated with alpha 3.7 | [PDF] | ||
177 | Hb D-Iran | β | VARIANT II | Dual Kit Program | 40.3 | 2.823 | Carrier. Clinically normal. Elutes as HbA2 in CE-HPLC. Compound heterozygotes HbS/Hb D-Iran behave clinically as HbA/HbS. | [PDF] | ||
181 | Hb Yaounde | β | VARIANT II | Dual Kit Program | 73.2 | 1.822 | Clinically normal. Elutes as HbA. | [PDF] | ||
185 | Hb Dunn | α1 or α2 | VARIANT II | Dual Kit Program | 13.4 | 3.257 | Heterozygote. Elutes in HbD window. | [PDF] | ||
189 | Hb J-Toronto | α1 | VARIANT II | Dual Kit Program | 20 | 1.693 | Heterozygote. Clinically normal. | [PDF] | ||
193 | Hb Chicago | α2 | VARIANT II | Dual Kit Program | 82.3 | 1.767 | Heterozygous. Elutes as HbA. | [PDF] | ||
194 | Hb Chicago | α2 | VARIANT II | Dual Kit Program | 82.3 | 1.767 | Heterozygous. Elutes as HbA. | [PDF] | ||
198 | Hb Hikari | β | VARIANT II | Dual Kit Program | 31.5 | 1.753 | Clinically normal. | [PDF] | ||
202 | Hb G-Szuhu | β | VARIANT II | Dual Kit Program | 3.2 | 3.017 | [PDF] | |||
206 | Hb Ambroise Pare | α2 | VARIANT II | Dual Kit Program | 80.7 | 1.797 | Heterozygous. Elutes with HbA. | [PDF] | ||
210 | Hb Groene Hart | α1 | VARIANT II | Dual Kit Program | 80 | 1.772 | Mild non-deletional alpha thal variant. Migrates as HbA. | [PDF] | ||
214 | Hb Q-Thailand | α1 | VARIANT II | Dual Kit Program | 23.8 | 3.644 | heterozygote | [PDF] | ||
219 | Hb Milledgeville | α2 | VARIANT II | Dual Kit Program | 84.1 | 1.82 | Heterozygous. Increased oxygen affinity leading to a mild erythrocytosis. | [PDF] | ||
223 | Hb Nunobiki | α2 | VARIANT II | Dual Kit Program | 6 | 1.55 | Heterozygous. Increased oxygen affinity leading to a mild erythrocytosis. | [PDF] | ||
235 | Hb Randwick | β | VARIANT II | Dual Kit Program | 61.2 | 2.98 | Double heterozygote (Hb Randwick with Beta thalassemia). It elutes in the position of HbA0 in all the systems except in the VARIANT II Dual Beta Thal program where it co-elutes with HbA2. Its association with a beta thal is extremely rare and explains both the anaemia and an increased HbF and HbA2 and if it is a beta 0 thal all the fraction eluting at the position of HbA0 is the variant. | [PDF] | ||
240 | HbS | β | VARIANT II | Dual Kit Program | 86.6 | 3.44 | Sickle cell disease. The trace amount of HbA remains from a blood transfusion. | [PDF] | ||
244 | HbS | β | VARIANT II | Dual Kit Program | 68.9 | 3 | [PDF] | |||
245 | HbS | β | VARIANT II | Dual Kit Program | 68.9 | 3 | [PDF] | |||
246 | HbS | β | VARIANT II | Dual Kit Program | 68.9 | 3.45 | [PDF] | |||
250 | HbS | β | VARIANT II | Dual Kit Program | 24.1 | 3.49 | HbS carrier with homozygous alpha + thalassemia. | [PDF] | ||
253 | HbS | β | VARIANT II | Dual Kit Program | 77.9 | 3.48 | Homozygous HbS with high HbA1c. | [PDF] | ||
257 | Hb G-Philadelphia | α2 | VARIANT II | Dual Kit Program | 28.9 | 3.35 | Heterozygous. Eluates as HbS. Associated with alpha thal. | [PDF] | ||
261 | HbC | β | VARIANT II | Dual Kit Program | 24.9 | 4.438 | Hb AC + alpha thal. The presence of an alpha thalassemia reduces the level of HbC and increases the microcytosis. | [PDF] | ||
264 | HbS | β | VARIANT II | Dual Kit Program | 73.7 | 3.387 | Classical chromatogram of a SS patient, the high HbF level suggests that the patient may be heterozygote (or perhaps homozygote) for one of the haplotype stimulating HbF synthesis. | [PDF] | ||
268 | HbC | β | VARIANT II | Dual Kit Program | 32.2 | 4.433 | heterozygote | [PDF] | ||
272 | Hb D-Iran | β | VARIANT II | Dual Kit Program | 39 | 2.71 | Heterozygous. Elutes as HbA2 in CE-HPLC. | [PDF] | ||
276 | Hb Hasharon | α1 | VARIANT II | Dual Kit Program | 19.2 | 4.19 | heterozygote | [PDF] | ||
280 | Hb Hopkins-II | α1 | VARIANT II | Dual Kit Program | 19.5 | 1.5 | heterozygote | [PDF] | ||
284 | Hb J-Bangkok | β | VARIANT II | Dual Kit Program | 32.3 | 1.66 | heterozygote | [PDF] | ||
288 | Hb J-Broussais | α2 | VARIANT II | Dual Kit Program | 12.2 | 1.48 | Heterozygote. Elutes near or with HbA1c. | [PDF] | ||
292 | Hb J-Paris-I | α1 | VARIANT II | Dual Kit Program | 25.5 | 1.59 | heterozygote | |||
296 | Hb J-Paris-I | α2 | VARIANT II | Dual Kit Program | 35 | 0.55 | Heterozygote. Elutes together with HbF. | [PDF] | ||
300 | Hb Le Lamentin | α2 | VARIANT II | Dual Kit Program | 25.5 | 1.41 | heterozygote | [PDF] | ||
304 | Hb O-Arab | β | VARIANT II | Dual Kit Program | 30.6 | 4.01 | Heterozygote, clinically normal. | [PDF] | ||
308 | Hb O-Padova | α2 | VARIANT II | Dual Kit Program | 14.5 | 3.93 | Heterozygote. Clinically normal. | [PDF] | ||
312 | Hb Q-India | α1 | VARIANT II | Dual Kit Program | 14.9 | 3.93 | Heterozygote. Clinically normal. | [PDF] | ||
316 | HbS | β | VARIANT II | Dual Kit Program | 33.3 | 3.47 | HbS homozygote, transfused. | [PDF] | ||
320 | Hb D-Ibadan | β | VARIANT II | Dual Kit Program | 35.8 | 3.17 | Carrier. Clinically normal. | [PDF] | ||
324 | Hb Valletta | β | VARIANT II | Dual Kit Program | 81.6 | 1.75 | Heterozygous. Elutes with HbA. Clinically normal. This mutation is usually linked in cis to HbF Malta. | [PDF] | ||
330 | Hb St. Luke's | α1 | VARIANT II | Dual Kit Program | 8.8 | 3.68 | Heterozygous. | [PDF] | ||
334 | Hb Sunshine Seth | α2 | VARIANT II | Dual Kit Program | 15.2 | 3.956 | heterozygote | [PDF] | ||
338 | HbE | β | VARIANT II | Dual Kit Program | 69.4 | 2.9 | Homozygote. | [PDF] | ||
342 | Hb Tacoma | β | VARIANT II | Dual Kit Program | 67.1 | 1.77 | Heterozygote carriers are clinically normal. | [PDF] | ||
346 | Hb Old Dominion/Burton-upon-Trent (OD/BuT) | β | VARIANT II | Dual Kit Program | 38.9 | 1.58 | heterozygote | [PDF] | ||
350 | Hb Hopkins-II | α1 | VARIANT II | Dual Kit Program | 22.6 | 1.49 | Heterozygote. | [PDF] | ||
354 | Hb G-Philadelphia | α2 | VARIANT II | Dual Kit Program | 23 | 3.37 | Heterozygous. Elutes as HbS. Associated with alpha thal. | [PDF] | ||
356 | Hb J-Bangkok | β | VARIANT II | Dual Kit Program | 26.4 | 1.7 | Clinically normal. Rare but found worldwide. | [PDF] | ||
360 | Hb Q-Iran | α2 | VARIANT II | Dual Kit Program | 19.2 | 4.09 | heterozygote | [PDF] | ||
364 | HbC | β | VARIANT II | Dual Kit Program | 74.8 | 4.41 | Homozygous. | [PDF] | ||
368 | Hb Le Lamentin | α2 | VARIANT II | Dual Kit Program | 29.1 | 1.47 | heterozygote | [PDF] | ||
372 | Hb J-Meerut | α2 | VARIANT II | Dual Kit Program | 9.5 | 1.53 | heterozygote | [PDF] | ||
375 | Hb Winnipeg | α1 | VARIANT II | Dual Kit Program | 16.1 | 4.084 | Heterozygote. | [PDF] | ||
379 | Hb Seal Rock | α2 | VARIANT II | Dual Kit Program | 0.7 | 4.104 | Heterozygous. Modified C-terminal sequence. | [PDF] | ||
383 | Hb D-Punjab | β | VARIANT II | Dual Kit Program | 38.5 | 3.233 | heterozygote | [PDF] | ||
387 | Hb G-Accra | β | VARIANT II | Dual Kit Program | 43.1 | 3.144 | Normal in the heterozygote. | [PDF] | ||
391 | Hb Hope | β | VARIANT II | Dual Kit Program | 47.8 | 0.921 | In neonatal screening this Hb may be masked by the large amount of HbF and a baby compound heterozygous for HbS and Hb Hope may erroneously appear as an HbS homozygote. | [PDF] | ||
395 | Hb Austin | β | VARIANT II | Dual Kit Program | 44 | 1.592 | Normal in the heterozygote. | [PDF] | ||
399 | HbS | β | VARIANT II | Dual Kit Program | 27.1 | 3.487 | HbS carrier with alpha thalassemia (homoz. alpha 3.7). | [PDF] | ||
403 | HbS | β | VARIANT II | Dual Kit Program | 30.5 | 3.499 | HbS + alpha-thal 2 (-3.7 del.). | [PDF] | ||
408 | Hb G-Copenhagen | β | VARIANT II | Dual Kit Program | 38.8 | 2.896 | Clinically normal. Elutes together with HbA2. | [PDF] | ||
412 | Hb G-San José | β | VARIANT II | Dual Kit Program | 32.9 | 3.564 | Clinically normal. | [PDF] | ||
416 | HbC | β | VARIANT II | Dual Kit Program | 78.9 | 4.416 | Homozygote. | [PDF] | ||
420 | Hb Santa Clara | β | VARIANT II | Dual Kit Program | 45.6 | 1.522 | Heterozygote. | [PDF] | ||
424 | Hb D-Punjab | β | VARIANT II | Dual Kit Program | 30.6 | 3.276 | Heterozygous. Clinically normal in heterozygotes. Mild anemia in homozygotes. | [PDF] | ||
428 | Hb Hasharon | α1 | VARIANT II | Dual Kit Program | 25.9 | 4.205 | Heterozygote with alpha 3.7. Clinically normal in heterozygote. | [PDF] | ||
432 | Hb Hasharon | α1 | VARIANT II | Dual Kit Program | 27 | 4.207 | Heterozygote with alpha 3.7. Clinically normal in heterozygote. | [PDF] | ||
436 | HbE | β | VARIANT II | Dual Kit Program | 25.9 | 2.926 | heterozygote | [PDF] | ||
440 | Hb Abruzzo | β | VARIANT II | Dual Kit Program | 38.8 | 2.836 | Hb with increased oxygen affinity. | [PDF] | ||
444 | Hb G-San José | β | VARIANT II | Dual Kit Program | 31.3 | 3.623 | Clinically normal. | [PDF] | ||
448 | Hb Roma | β | VARIANT II | Dual Kit Program | 31.3 | 3.623 | Elutes with HbA. | [PDF] | ||
451 | Hb Camperdown | β | VARIANT II | Dual Kit Program | 45.5 | 0.958 | Hb variant is mildly unstable. | [PDF] | ||
455 | Hb Randwick | β | VARIANT II | Dual Kit Program | 2.9 | 2.995 | Elutes with HbA2. Mildly unstable. | [PDF] | ||
461 | HbE | β | VARIANT II | Dual Kit Program | 18.9 | 2.91 | HbE heterozygote with alpha-thal 1 heterozygote. | [PDF] | ||
465 | HbE | β | VARIANT II | Dual Kit Program | 27.2 | 2.899 | Association of HbE and Hb Constant Spring | [PDF] | ||
469 | HbS | β | VARIANT II | Dual Kit Program | 68.5 | 3.437 | Heterozygote for Hb S/beta zero thal (Beta(0) CD39 (C/T)). | [PDF] | ||
472 | Hb Shelby | β | VARIANT II | Dual Kit Program | 12.2 | 2.968 | Compound heterozygous Hb Shelby / Beta zero Thalassemia. | [PDF] | ||
476 | Hb Shelby | β | VARIANT II | Dual Kit Program | 3.9 | 2.979 | heterozygote | [PDF] | ||
480 | Hb D-Punjab | β | VARIANT II | Dual Kit Program | 75.4 | 3.191 | Double heterozygote Hb D-Punjab and beta-thalassaemia. | [PDF] | ||
485 | Hb Valletta | β | VARIANT II | Dual Kit Program | 61.2 | 1.886 | Compound heterozygote with Hb Lepore. Elutes as HbA0. | [PDF] | ||
487 | Hb D-Punjab | β | VARIANT II | Dual Kit Program | 84.8 | 3.212 | [PDF] | |||
498 | HbS | β | VARIANT II | Dual Kit Program | 38.6 | 3.472 | Hb S/beta thal (probably a delta-beta thalassemia). | [PDF] | ||
502 | HbS | β | VARIANT II | Dual Kit Program | 6.9 | 3.545 | Newborn homozygous for HbS. The peak eluting at the position of HbA2 may be aged HbS. | [PDF] | ||
506 | HbS | β | VARIANT II | Dual Kit Program | 53.6 | 3.465 | HbS homozygous with HPFH. | [PDF] | ||
512 | HbS | β | VARIANT II | Dual Kit Program | 45.7 | 3.427 | Compound heterozygote for HbS and HbC | [PDF] | ||
513 | HbC | β | VARIANT II | Dual Kit Program | 42.7 | 4.422 | Compound heterozygote for HbC and HbS | [PDF] | ||
516 | HbS | β | VARIANT II | Dual Kit Program | 70.6 | 3.402 | Compound heterozygote for HbS and Beta (+) thal. | [PDF] | ||
521 | HbS | β | VARIANT II | Dual Kit Program | 46.7 | 3.429 | Compound heterozygote for HbS and HbC | [PDF] | ||
522 | HbC | β | VARIANT II | Dual Kit Program | 43.2 | 4.431 | Compound heterozygote for HbS and HbC. | [PDF] | ||
526 | HbS | β | VARIANT II | Dual Kit Program | 59.5 | 3.432 | Compound heterozygote for HbS and B (+) thalassaemia. | [PDF] | ||
533 | HbS | β | VARIANT II | Dual Kit Program | 44.6 | 3.44 | Compound heterozygote for HbS and HbC. | [PDF] | ||
534 | HbC | β | VARIANT II | Dual Kit Program | 40.8 | 4.423 | Compound heterozygote for HbS and HbC | [PDF] | ||
540 | Hb D-Punjab | β | VARIANT II | Dual Kit Program | 40 | 3.21 | Compound heterozygote for HbS and Hb D-Punjab | [PDF] | ||
541 | HbS | β | VARIANT II | Dual Kit Program | 37.5 | 3.455 | Compound heterozygote for HbS and Hb D-Punjab. | [PDF] | ||
545 | HbC | β | VARIANT II | Dual Kit Program | 50 | 4.414 | Compound heterozygote for HbC and (delta-beta) zero thalassaemia. | [PDF] | ||
549 | HbC | β | VARIANT II | Dual Kit Program | 59.3 | 4.422 | Compound heterozygote for HbC and beta-thalassaemia. | [PDF] | ||
551 | Hb Gouda | α2 | VARIANT II | Dual Kit Program | 33.3 | 1.557 | heterozygote | [PDF] | ||
555 | Hb A2' or Hb B2 | δ | VARIANT II | Dual Kit Program | 0.8 | 3.62 | Homozygous. | [PDF] | ||
558 | Hb N-Baltimore | β | VARIANT II | Dual Kit Program | 79 | 1.535 | Hb N-Baltimore / Beta zero thalassaemia. Clinical normal. | [PDF] | ||
562 | HbS | β | VARIANT II | Dual Kit Program | 31.1 | 3.452 | HbS carrier + alpha-thal 2 (-3.7 deletion). | [PDF] | ||
567 | HbE | β | VARIANT II | Dual Kit Program | 42.6 | 2.885 | Association of HbE and beta-thalassaemia. | [PDF] | ||
574 | HbC | β | VARIANT II | Dual Kit Program | 43.8 | 4.419 | Compound heterozygosity for HbC and Hb O Arab. | [PDF] | ||
575 | Hb O-Arab | β | VARIANT II | Dual Kit Program | 42.1 | 3.999 | Compound heterozygosity for HbC and Hb O Arab (extremely rare). This situation is important to be identified for genetic counselling since both alleles when associated to HbS lead to a severe sickle cell syndrome. | [PDF] | ||
580 | Hb Mexico | α1 | VARIANT II | Dual Kit Program | 28.1 | 1.49 | Heterozygous. | [PDF] | ||
584 | HbI | α1 | VARIANT II | Dual Kit Program | 22.5 | 1.467 | heterozygote | [PDF] | ||
588 | Hb Lepore-Boston-Washington | δ | VARIANT II | Dual Kit Program | 13.1 | 2.827 | Mild microcytic anaemia. Elutes together with HbA2 in CE-HPLC. | [PDF] | ||
588 | Hb Lepore-Boston-Washington | β | VARIANT II | Dual Kit Program | 13.1 | 2.827 | Mild microcytic anaemia. Elutes together with HbA2 in CE-HPLC. | [PDF] | ||
592 | Hb M-Milwaukee-2 | β | VARIANT II | Dual Kit Program | 31.1 | 4.435 | Congenital methemoglobinemia. | [PDF] | ||
596 | Hb Lepore-Boston-Washington | δ | VARIANT II | Dual Kit Program | 10.8 | 2.887 | Mild microcytic anaemia. Elutes together with HbA2 in CE-HPLC. | [PDF] | ||
596 | Hb Lepore-Boston-Washington | β | VARIANT II | Dual Kit Program | 10.8 | 2.887 | Mild microcytic anaemia. Elutes together with HbA2 in CE-HPLC. | [PDF] | ||
598 | HbI | α1 | VARIANT II | Dual Kit Program | 27.9 | 1.491 | Heterozygote. | [PDF] | ||
602 | Hb Aichi | α1 or α2 | VARIANT II | Dual Kit Program | 22.5 | 3.465 | Heterozygous. Elutes as HbS. | [PDF] | ||
605 | Hb Setif | α2 | VARIANT II | Dual Kit Program | 6 | 1.529 | Heterozygote. Elutes with HbA. | [PDF] | ||
611 | Hb Setif | α2 | VARIANT II | Dual Kit Program | 10.4 | 3.908 | Heterozygote. | [PDF] | ||
614 | HbS | β | VARIANT II | Dual Kit Program | 28.8 | 3.489 | HbS carrier with Hb Montgomery (alpha variant). | [PDF] | ||
615 | Hb Montgomery | α2 | VARIANT II | Dual Kit Program | 6.5 | 4.425 | Heterozygous. Association with HbS. | [PDF] | ||
3 | Hb I-Interlaken | α1 | D-10 | Dual Kit Program | 24.5 | 1.45 | Heterozygous | [PDF] | ||
6 | HbS | β | D-10 | Dual Kit Program | 34.2 | 4.06 | Heterozygous / Sickle Cell Trait | [PDF] | ||
14 | HbC | β | D-10 | Dual Kit Program | 82.5 | 4.82 | Compound heterozygous with CD 39. Could be confused with HbC homozygous. A2 level and hematological data suggest an associated beta-thal. | [PDF] | ||
26 | HbE | β | D-10 | Dual Kit Program | 28.9 | 3.15 | Heterozygous | [PDF] | ||
27 | HbS | β | D-10 | Dual Kit Program | 52.7 | 4.04 | Compound heterozygote between HbS and HPFH | [PDF] | ||
45 | HbS | β | D-10 | Dual Kit Program | 21.3 | 4.11 | HbS heterozygote with alpha thalassaemia (HbS + alpha-thal 2). | [PDF] | ||
49 | Hb Siirt | β | D-10 | Dual Kit Program | 80.5 | 1.69 | Heterozygote clinically normal, the mild thalassemic syndrome observed may be in relation with the associated alpha gene abnormality (triple alpha). Hb Siirt elutes together with HbA. | [PDF] | ||
52 | Hb G-Honolulu | α1 | D-10 | Dual Kit Program | 19.4 | 3.83 | Heterozygous. Clinically normal. | [PDF] | ||
55 | Hb St. Claude | α1 or α2 | D-10 | Dual Kit Program | 21.8 | 1.42 | Heterozygous. Clinically normal. | [PDF] | ||
58 | Hb G-Coushatta | β | D-10 | Dual Kit Program | 35 | 2.7 | Homozygous or associated with beta (0) thal. | [PDF] | ||
61 | Hb Camden | β | D-10 | Dual Kit Program | 50.1 | 0.75 | Clinically normal. Elutes near, or at the position of Hb A1c. | [PDF] | ||
65 | Hb Dhofar | β | D-10 | Dual Kit Program | 23.5 | 3.43 | Thalassemic Hb (in cis with a beta (+)-thalassemic mutation). | [PDF] | ||
70 | Hb Pierre-Bénite | β | D-10 | Dual Kit Program | 83.3 | 1.66 | This variant displays a high oxygen affinity and leads to erythrocytosis. Elutes as HbA0. | [PDF] | ||
73 | Hb Bicêtre | β | D-10 | Dual Kit Program | 83.4 | 1.69 | Unstable variant. Elutes with HbA. | [PDF] | ||
77 | Hb M-Saskatoon | β | D-10 | Dual Kit Program | 6.9 | 4.7 | Methemoglobinemia and unstable variant. | [PDF] | ||
81 | Hb Rainier | β | D-10 | Dual Kit Program | 73.2 | 1.69 | Increased oxygen affinity leading to erythrocytosis. Elutes as a shoulder in the descending part of HbA. | [PDF] | ||
85 | Hb J-Baltimore | β | D-10 | Dual Kit Program | 42.9 | 1.52 | Clinically normal. | [PDF] | ||
89 | Hb Acharnes | β | D-10 | Dual Kit Program | 81.7 | 1.7 | Unstable variant. Chronic hemolytic anemia. Elutes together with HbA0 or as a shoulder in the ascending part. | [PDF] | ||
93 | Hb Chad | α2 | D-10 | Dual Kit Program | 22.5 | 4.49 | Heterozygous. Clinically normal. | [PDF] | ||
97 | Hb Roanne | α1 or α2 | D-10 | Dual Kit Program | 87 | 1.7 | Heterozygote clinically normal. Elutes as HbA. | [PDF] | ||
101 | Hb Providence | β | D-10 | Dual Kit Program | 16.4 | 0.97 | This variant is spontaneously deaminated X-Asn 13-19%; X-Asp 32-33% leading to several fast eluting peaks. | [PDF] | ||
102 | Hb Toulon | α2 | D-10 | Dual Kit Program | 33.5 | 2.96 | Heterozygote clinically normal. Elutes in the HbA2 window. | [PDF] | ||
105 | Hb D-Ouled Rabah | β | D-10 | Dual Kit Program | 48.3 | 2.64 | Carrier. Clinically normal. Elutes as HbA2 in CE-HPLC. | [PDF] | ||
109 | Hb Lyon-Bron | α2 | D-10 | Dual Kit Program | 28.7 | 1.42 | Heterozygous. Slightly decreased oxygen affinity, mild anaemia. | [PDF] | ||
114 | Hb Saint-Jacques | β | D-10 | Dual Kit Program | 76.1 | 1.72 | Heterozygous. Hb variant with increased oxygen affinity. | [PDF] | ||
120 | Hb Gerland | α2 | D-10 | Dual Kit Program | 87.4 | 1.68 | Heterozygous. Elutes with HbA. Clinically asymptomatic neutral alpha chain variant. | [PDF] | ||
125 | Hb Aubagne | β | D-10 | Dual Kit Program | 82.7 | 1.69 | Heterozygous. Unstable variant, mild hemolytic anaemia. Appears as a shoulder in the descending part of HbA0. | [PDF] | ||
129 | Hb Stanleyville-II | α2 | D-10 | Dual Kit Program | 31.2 | 4.01 | Heterozygous. Clinically normal. | [PDF] | ||
133 | Hb J-Sardegna | α2 | D-10 | Dual Kit Program | 30 | 0.51 | Heterozygous. Elutes with HbF. DNA sequencing showed that the mutation leads to an Asn which is totally deamidated. | [PDF] | ||
137 | Hb Russ | α1 | D-10 | Dual Kit Program | 15.3 | 4.09 | Heterozygous. Elutes in HbS window. Clinically normal. | [PDF] | ||
141 | Hb K Woolwich | β | D-10 | Dual Kit Program | 33.5 | 0.65 | ||||
145 | Hb Maputo | β | D-10 | Dual Kit Program | 55 | 3.05 | Clinically normal. Elutes as HbA2. | [PDF] | ||
149 | Hb Brem-sur-Mer | β | D-10 | Dual Kit Program | 72 | 1.72 | Clinically and hematologically normal. Elutes as HbA. | [PDF] | ||
153 | Hb Fannin-Lubbock II | β | D-10 | Dual Kit Program | 34 | 1.54 | This variant carries in addition to the mutation of Hb Fannin Lubbock [Gly>Asp] a second neutral mutation [beta Val>Leu] which modifies the retention time in RP-HPLC. Clinically normal. | [PDF] | ||
157 | Hb Passy | α2 | D-10 | Dual Kit Program | 74.7 | 1.68 | Heterozygous. Unstable variant. | [PDF] | ||
159 | Hb Handsworth | α1 | D-10 | Dual Kit Program | 14.9 | 4.17 | Heterozygous. Clinically normal. | [PDF] | ||
161 | Hb Shimonoseki | α1 | D-10 | Dual Kit Program | 14.7 | 4.17 | Heterozygous. Elutes as HbS. | [PDF] | ||
165 | Hb Lombard | α2 | D-10 | Dual Kit Program | 0.5 | 2.55 | Heterozygous. Elutes as a shoulder in the descending part of the HbA peak. | [PDF] | ||
170 | Hb J-Tongariki | α1 or α2 | D-10 | Dual Kit Program | 20.3 | 1.59 | Heterozygous. Associated with alpha 3.7. | [PDF] | ||
174 | Hb D-Iran | β | D-10 | Dual Kit Program | 45 | 2.64 | Carrier. Clinically normal. Elutes as HbA2 in CE-HPLC. Compound heterozygotes HbS/Hb D-Iran behave clinically as HbA/HbS. | [PDF] | ||
178 | Hb Yaounde | β | D-10 | Dual Kit Program | 73 | 1.72 | Clinically normal. Elutes as HbA. | [PDF] | ||
182 | Hb Dunn | α1 or α2 | D-10 | Dual Kit Program | 14.4 | 3.8 | Heterozygote. Elutes in Hb D window. | [PDF] | ||
186 | Hb J-Toronto | α1 | D-10 | Dual Kit Program | 17.9 | 1.58 | Heterozygote. Clinically normal. | [PDF] | ||
190 | Hb Chicago | α2 | D-10 | Dual Kit Program | 82.3 | 1.69 | Heterozygous. Elutes as HbA. | [PDF] | ||
195 | Hb Hikari | β | D-10 | Dual Kit Program | 73.7 | 1.72 | Clinically normal. Elutes in HbA window. | [PDF] | ||
199 | Hb G-Szuhu | β | D-10 | Dual Kit Program | 32.2 | 4.17 | Clinically normal. Elutes in HbS window. | [PDF] | ||
203 | Hb Ambroise Pare | α2 | D-10 | Dual Kit Program | 79.7 | 1.67 | Heterozygous. Elutes with HbA. | [PDF] | ||
207 | Hb Groene Hart | α1 | D-10 | Dual Kit Program | 79.6 | 1.68 | Mild non-deletional alpha thal variant. Migrates as HbA. | [PDF] | ||
211 | Hb Q-Thailand | α1 | D-10 | Dual Kit Program | 22.5 | 4.18 | heterozygote | [PDF] | ||
216 | Hb Milledgeville | α2 | D-10 | Dual Kit Program | 5.8 | 1.44 | Heterozygous. Increased oxygen affinity leading to a mild erythrocytosis. | [PDF] | ||
220 | Hb Nunobiki | α2 | D-10 | Dual Kit Program | 5.8 | 1.44 | Heterozygous. Increased oxygen affinity leading to a mild erythrocytosis. | [PDF] | ||
224 | Hb Summer Hill | β | D-10 | Dual Kit Program | 35.8 | 3.88 | Heterozygote. Clinically normal. Elutes in HbS window. | [PDF] | ||
226 | Hb Fort de France | α1 | D-10 | Dual Kit Program | 64.1 | 1.66 | Heterozygote. Elutes in the window of HbA2. | [PDF] | ||
228 | Hb J-Broussais | α2 | D-10 | Dual Kit Program | 14 | 1.12 | Heterozygote. Elutes near or with HbA1c. Clinically normal. | [PDF] | ||
230 | HbS | β | D-10 | Dual Kit Program | 83.3 | 4.02 | Homozygote. Classical chromatogram of an SS patient. | [PDF] | ||
232 | Hb Fort de France | α1 | D-10 | Dual Kit Program | 16.1 | 3.06 | Compound heterozygote. In this case HbA0 is a result of transfusion. | [PDF] | ||
233 | Hb K-Ibadan | β | D-10 | Dual Kit Program | 7.8 | 1.38 | Heterozygote. Clinically normal. | [PDF] | ||
236 | HbS | β | D-10 | Dual Kit Program | 88.5 | 4.04 | Homozygous Hb S. The trace amount of HbA remains from a blood transfusion. | [PDF] | ||
241 | HbS | β | D-10 | Dual Kit Program | 70.3 | 4.04 | Homozygous HbS recently transfused. | [PDF] | ||
247 | HbS | β | D-10 | Dual Kit Program | 23.3 | 4.1 | HbS carrier with homozygous alpha + thalassemia. | [PDF] | ||
251 | HbS | β | D-10 | Dual Kit Program | 74.1 | 4.07 | [PDF] | |||
254 | Hb G-Philadelphia | α2 | D-10 | Dual Kit Program | 30 | 3.92 | Heterozygous. Associated with alpha thal. | [PDF] | ||
258 | HbC | β | D-10 | Dual Kit Program | 26 | 4.7 | Hb AC + alpha thal. The presence of an alpha thalassemia reduces the level of HbC and increases the microcytosis. | [PDF] | ||
262 | HbS | β | D-10 | Dual Kit Program | 74.8 | 4.04 | Classical chromatogram of a SS patient, the high HbF level suggests that the patient may be heterozygote (or perhaps homozygote) for one of the haplotype stimulating HbF synthesis. | [PDF] | ||
265 | HbC | β | D-10 | Dual Kit Program | 32.3 | 4.7 | heterozygote | [PDF] | ||
269 | Hb D-Iran | β | D-10 | Dual Kit Program | 14.3 | 2.59 | heterozygote | [PDF] | ||
273 | Hb Hasharon | α1 | D-10 | Dual Kit Program | 21.5 | 4.53 | heterozygote | [PDF] | ||
277 | Hb Hopkins-II | α1 | D-10 | Dual Kit Program | 18.3 | 1.41 | heterozygote | [PDF] | ||
281 | Hb J-Bangkok | β | D-10 | Dual Kit Program | 39.8 | 1.68 | heterozygote | [PDF] | ||
285 | Hb J-Broussais | α2 | D-10 | Dual Kit Program | 31.1 | 0.96 | Heterozygote. Elutes with HbA1c. | [PDF] | ||
289 | Hb J-Paris-I | α1 | D-10 | Dual Kit Program | 25.5 | 1.5 | heterozygote | [PDF] | ||
293 | Hb J-Sardegna | α2 | D-10 | Dual Kit Program | 36.1 | 0.46 | Heterozygote. Elutes together with HbF. | [PDF] | ||
297 | Hb Le Lamentin | α2 | D-10 | Dual Kit Program | 24.8 | 1.36 | heterozygote | [PDF] | ||
301 | Hb O-Arab | β | D-10 | Dual Kit Program | 29.4 | 4.57 | Heterozygote, clinically normal. | [PDF] | ||
305 | Hb O-Padova | α2 | D-10 | Dual Kit Program | 14.2 | 4.42 | Heterozygote, clinically normal. | [PDF] | ||
309 | Hb Q-India | α1 | D-10 | Dual Kit Program | 14.8 | 4.37 | Heterozygote. Clinically normal. | [PDF] | ||
313 | HbS | β | D-10 | Dual Kit Program | 32.4 | 4.08 | Homozygous HbS recently transfused (Exchange transfused) | [PDF] | ||
317 | Hb D-Ibadan | β | D-10 | Dual Kit Program | 34.1 | 3.51 | Carrier. Clinically normal. | [PDF] | ||
321 | Hb Valletta | β | D-10 | Dual Kit Program | 84.1 | 1.69 | Heterozygous. Elutes with HbA. Clinically normal. This mutation is usually linked in cis to HbF Malta. | [PDF] | ||
327 | Hb St. Luke's | α1 | D-10 | Dual Kit Program | 8.5 | 4.21 | Heterozygous. Elutes with HbS. | [PDF] | ||
331 | Hb Sunshine Seth | α2 | D-10 | Dual Kit Program | 14.8 | 4.43 | heterozygote | [PDF] | ||
335 | HbE | β | D-10 | Dual Kit Program | 87.3 | 2.87 | Homozygote. | [PDF] | ||
339 | Hb Tacoma | β | D-10 | Dual Kit Program | 67.5 | 1.7 | [PDF] | |||
343 | Hb Old Dominion/Burton-upon-Trent (OD/BuT) | β | D-10 | Dual Kit Program | 36.3 | 1.52 | heterozygote | [PDF] | ||
347 | Hb Hopkins-II | α1 | D-10 | Dual Kit Program | 21.4 | 1.39 | Heterozygote. | [PDF] | ||
351 | Hb G-Philadelphia | α2 | D-10 | Dual Kit Program | 22.5 | 3.96 | Heterozygous. Associated with alpha thal. | [PDF] | ||
357 | Hb Gouda | α2 | D-10 | Dual Kit Program | 28.7 | 1.43 | Heterozygote. Clinically normal. | [PDF] | ||
361 | HbC | β | D-10 | Dual Kit Program | 75.5 | 4.69 | HbC homozygous or compound heterozygous with beta zero thalassaemia. | [PDF] | ||
365 | Hb Le Lamentin | α2 | D-10 | Dual Kit Program | 28.8 | 1.38 | heterozygote | [PDF] | ||
369 | Hb J-Meerut | α2 | D-10 | Dual Kit Program | 9.1 | 1.42 | heterozygote | [PDF] | ||
373 | Hb Winnipeg | α1 | D-10 | Dual Kit Program | 16.7 | 4.46 | Heterozygote. | [PDF] | ||
376 | Hb Seal Rock | α2 | D-10 | Dual Kit Program | 1.5 | 4.59 | Heterozygous. Modified C-terminal sequence. | [PDF] | ||
380 | Hb D-Punjab | β | D-10 | Dual Kit Program | 38.1 | 3.78 | heterozygote | [PDF] | ||
384 | Hb G-Accra | β | D-10 | Dual Kit Program | 40.6 | 3.53 | Normal in the heterozygote. | [PDF] | ||
388 | Hb Hope | β | D-10 | Dual Kit Program | 49.2 | 0.73 | In neonatal screening this Hb may be masked by the large amount of HbF and a baby compound heterozygous for HbS and Hb Hope may erroneously appear as an HbS homozygote. | [PDF] | ||
392 | Hb Austin | β | D-10 | Dual Kit Program | 43.8 | 1.47 | Normal in the heterozygote. | [PDF] | ||
396 | HbS | β | D-10 | Dual Kit Program | 26.4 | 4.09 | HbS carrier with alpha thalassemia (homoz. alpha 3.7). | [PDF] | ||
400 | HbS | β | D-10 | Dual Kit Program | 30 | 4.09 | HbS carrier + alpha-thal 2 (-3.7 del.). | [PDF] | ||
405 | Hb G-Copenhagen | β | D-10 | Dual Kit Program | 44.6 | 2.91 | Clinically normal. Elutes together with HbA2. | [PDF] | ||
409 | Hb G-San José | β | D-10 | Dual Kit Program | 31 | 4.17 | Clinically normal. Elutes in S Window. | [PDF] | ||
413 | HbC | β | D-10 | Dual Kit Program | 79.3 | 4.69 | Homozygote. | [PDF] | ||
417 | Hb Santa Clara | β | D-10 | Dual Kit Program | 45.3 | 1.43 | Heterozygote. | [PDF] | ||
421 | Hb D-Punjab | β | D-10 | Dual Kit Program | 29 | 3.81 | Heterozygous. Clinically normal in heterozygotes. Mild anemia in homozygotes. | [PDF] | ||
425 | Hb Hasharon | α1 | D-10 | Dual Kit Program | 25.4 | 4.56 | Heterozygote with alpha 3.7. Clinically normal in heterozygote. | [PDF] | ||
429 | Hb Hasharon | α1 | D-10 | Dual Kit Program | 29.1 | 4.56 | Heterozygote with alpha 3.7. Clinically normal in heterozygote. | [PDF] | ||
433 | HbE | β | D-10 | Dual Kit Program | 29.6 | 2.96 | heterozygote | [PDF] | ||
438 | Hb Abruzzo | β | D-10 | Dual Kit Program | 46.1 | 2.72 | Hb with increased oxygen affinity. | [PDF] | ||
441 | Hb G-San José | β | D-10 | Dual Kit Program | 28.5 | 4.18 | Clinically normal. Elutes in S Window. | [PDF] | ||
445 | Hb Roma | β | D-10 | Dual Kit Program | 28.5 | 4.18 | Elutes with HbA. | [PDF] | ||
452 | Hb Randwick | β | D-10 | Dual Kit Program | 81.4 | 1.69 | Elutes with HbA. Mildly unstable. | [PDF] | ||
458 | HbE | β | D-10 | Dual Kit Program | 19.9 | 2.96 | HbE heterozygote with alpha-thal 1 heterozygote. | [PDF] | ||
462 | HbE | β | D-10 | Dual Kit Program | 28.8 | 2.92 | Association of HbE and Hb Constant Spring | [PDF] | ||
467 | HbS | β | D-10 | Dual Kit Program | 67.9 | 4.03 | Heterozygote for Hb S/beta zero thal (Beta(0) CD39 (C/T)) | [PDF] | ||
470 | Hb Shelby | β | D-10 | Dual Kit Program | 11.7 | 3.06 | Compound heterozygous Hb Shelby / Beta zero Thalassemia. | [PDF] | ||
473 | Hb Shelby | β | D-10 | Dual Kit Program | 5.8 | 3.1 | heterozygote | [PDF] | ||
477 | Hb D-Punjab | β | D-10 | Dual Kit Program | 70.8 | 3.7 | Double heterozygote Hb D-Punjab and beta-thalassaemia. | [PDF] | ||
482 | Hb Valletta | β | D-10 | Dual Kit Program | 66.3 | 1.74 | Compound heterozygote with Hb Lepore. Elutes as HbA0. | [PDF] | ||
486 | Hb D-Punjab | β | D-10 | Dual Kit Program | 81 | 3.74 | [PDF] | |||
488 | HbC | β | D-10 | Dual Kit Program | 29.6 | 4.7 | compounnd heterozygote for HbC and Hb Korle Bu | [PDF] | ||
490 | HbS | β | D-10 | Dual Kit Program | 31.4 | 4.07 | Compound heterozygote for HbC and HbS | [PDF] | ||
493 | Hb Randwick | β | D-10 | Dual Kit Program | 52.4 | 1.82 | Double heterozygote for Hb Randwick and beta-thalassaemia. | [PDF] | ||
496 | HbS | β | D-10 | Dual Kit Program | 39.5 | 4.22 | Hb S/beta thal (probably a delta-beta thalassemia). | [PDF] | ||
499 | HbS | β | D-10 | Dual Kit Program | 8 | 4.12 | Newborn homozygous for HbS. The peak eluting at the position of HbA2 may be aged HbS. | [PDF] | ||
503 | HbS | β | D-10 | Dual Kit Program | 54.4 | 4.07 | HbS homozygous with HPFH. | [PDF] | ||
508 | HbS | β | D-10 | Dual Kit Program | 46 | 4.08 | Compound heterozygote for HbS and HbC, together with alpha-thal 2. | [PDF] | ||
509 | HbC | β | D-10 | Dual Kit Program | 46.4 | 4.7 | Compound heterozygote for HbS and HbC | [PDF] | ||
514 | HbS | β | D-10 | Dual Kit Program | 69.2 | 4.05 | Compound heterozygote for HbS and Beta (+) thal | [PDF] | ||
517 | HbS | β | D-10 | Dual Kit Program | 46.1 | 4.06 | Compound heterozygote for HbS and HbC | [PDF] | ||
518 | HbC | β | D-10 | Dual Kit Program | 46.3 | 4.7 | Compound heterozygote for HbS and HbC | [PDF] | ||
520 | HbC | β | D-10 | Dual Kit Program | 46.3 | 5.12 | Compound heterozygote for HbS and HbC | [PDF] | ||
523 | HbS | β | D-10 | Dual Kit Program | 58.9 | 4.06 | Compound heterozygote for HbS and B (+) thalassaemia. | [PDF] | ||
527 | HbS | β | D-10 | Dual Kit Program | 44.4 | 4.07 | Compound heterozygote for HbS and HbC | [PDF] | ||
528 | HbC | β | D-10 | Dual Kit Program | 43.6 | 4.71 | Compound heterozygote for HbS and HbC | [PDF] | ||
535 | Hb D-Punjab | β | D-10 | Dual Kit Program | 37.9 | 3.74 | Compound heterozygote for HbS and Hb D-Punjab | [PDF] | ||
542 | HbC | β | D-10 | Dual Kit Program | 50.4 | 4.7 | Compound heterozygote for HbC and (delta-beta) zero thalassaemia. | [PDF] | ||
546 | HbC | β | D-10 | Dual Kit Program | 59.4 | 4.7 | heterozygote | [PDF] | ||
552 | Hb A2' or Hb B2 | δ | D-10 | Dual Kit Program | 1.5 | 4.19 | [PDF] | |||
556 | Hb N-Baltimore | β | D-10 | Dual Kit Program | 80.8 | 1.46 | Hb N-Baltimore / Beta zero thalassaemia. Clinical normal. | [PDF] | ||
559 | HbS | β | D-10 | Dual Kit Program | 30.7 | 4.08 | HbS carrier with alpha-thalassaemia (α3.7/αα). | [PDF] | ||
563 | Hb Camperdown | β | D-10 | Dual Kit Program | 46.7 | 0.68 | Mildly unstable. | [PDF] | ||
564 | HbE | β | D-10 | Dual Kit Program | 41.2 | 2.78 | Association of HbE and beta-thalassaemia. | [PDF] | ||
568 | HbC | β | D-10 | Dual Kit Program | 48.1 | 4.79 | Compound heterozygote for HbC and Hb O-Arab. | [PDF] | ||
569 | Hb O-Arab | β | D-10 | Dual Kit Program | 41.6 | 4.56 | Compound heterozygosity for HbC and Hb O Arab (extremely rare). This situation is important to be identified for genetic counselling since both alleles when associated to HbS lead to a severe sickle cell syndrome. | [PDF] | ||
576 | Hb Mexico | α1 | D-10 | Dual Kit Program | 27.3 | 1.37 | Heterozygous. | [PDF] | ||
581 | HbI | α1 | D-10 | Dual Kit Program | 10.4 | 1.36 | heterozygote | [PDF] | ||
585 | Hb Lepore-Boston-Washington | δ | D-10 | Dual Kit Program | 4.8 | 2.69 | Mild microcytic anaemia. Elutes together with HbA2 in CE-HPLC. | [PDF] | ||
585 | Hb Lepore-Boston-Washington | β | D-10 | Dual Kit Program | 4.8 | 2.69 | Mild microcytic anaemia. Elutes together with HbA2 in CE-HPLC. | [PDF] | ||
589 | Hb M-Milwaukee-2 | β | D-10 | Dual Kit Program | 31.6 | 4.71 | Congenital methemoglobinemia. | [PDF] | ||
593 | Hb Lepore-Boston-Washington | δ | D-10 | Dual Kit Program | 5.3 | 2.69 | Mild microcytic anaemia. Elutes together with HbA2 in CE-HPLC. | [PDF] | ||
593 | Hb Lepore-Boston-Washington | β | D-10 | Dual Kit Program | 5.3 | 2.69 | Mild microcytic anaemia. Elutes together with HbA2 in CE-HPLC. | [PDF] | ||
599 | Hb Aichi | α1 or α2 | D-10 | Dual Kit Program | 21.9 | 4.05 | Heterozygous. Elutes as HbS. | [PDF] | ||
603 | Hb Setif | α2 | D-10 | Dual Kit Program | 3.5 | 1.43 | Heterozygote. Elutes with HbA. | [PDF] | ||
606 | Hb Providence | β | D-10 | Dual Kit Program | 31.3 | 0.3 | This variant is spontaneously deaminated X-Asn 13-19%; X-Asp 32-33% leading to several fast eluting peaks. | [PDF] | ||
607 | Hb Providence | β | D-10 | Dual Kit Program | 16.4 | 0.97 | This variant is spontaneously deaminated X-Asn 13-19%; X-Asp 32-33% leading to several fast eluting peaks. | [PDF] | ||
608 | Hb Setif | α2 | D-10 | Dual Kit Program | 11.3 | 4.4 | Heterozygote. | [PDF] | ||
4 | Hb I-Interlaken | α1 | VARIANT II | β-thal Short Program | 24.8 | 1.63 | Heterozygous | [PDF] | ||
8 | HbS | β | VARIANT II | β-thal Short Program | 34.6 | 4.4 | Heterozygous / Sickle Cell Trait | [PDF] | ||
16 | HbC | β | VARIANT II | β-thal Short Program | 86.8 | 5.16 | Compound heterozygous with CD 39. Could be confused with HbC homozygous. A2 level and hematological data suggest an associated beta-thal. | [PDF] | ||
28 | HbS | β | VARIANT II | β-thal Short Program | 69.4 | 4.41 | Compound heterozygote for HbS and HPFH | [PDF] | ||
37 | HbE | β | VARIANT II | β-thal Short Program | 25.1 | 3.66 | Heterozygous | [PDF] | ||
56 | Hb St. Claude | α1 or α2 | VARIANT II | β-thal Short Program | 22.4 | 1.88 | Heterozygous. Clinically normal. | [PDF] | ||
59 | Hb G-Coushatta | β | VARIANT II | β-thal Short Program | 75.1 | 3.48 | Homozygous or associated with beta (0) thal. | [PDF] | ||
62 | Hb Camden | β | VARIANT II | β-thal Short Program | 44.5 | 1.36 | Clinically normal. Elutes near, or at the position of Hb A1c. | [PDF] | ||
68 | Hb Dhofar | β | VARIANT II | β-thal Short Program | 12.8 | 3.92 | Thalassemic Hb (in cis with a beta (+)-thalassemic mutation). | [PDF] | ||
75 | Hb Bicêtre | β | VARIANT II | β-thal Short Program | 85.2 | 2.5 | Unstable variant. Elutes with HbA. | [PDF] | ||
79 | Hb M-Saskatoon | β | VARIANT II | β-thal Short Program | 11.7 | 5 | Methemoglobinemia and unstable variant. | [PDF] | ||
82 | Hb Rainier | β | VARIANT II | β-thal Short Program | 78.1 | 2.48 | Increased oxygen affinity leading to erythrocytosis. Elutes as HbA. | [PDF] | ||
83 | Hb Rainier | β | VARIANT II | β-thal Short Program | 78.3 | 2.51 | Increased oxygen affinity leading to erythrocytosis. Elutes as a shoulder in the descending part of HbA | [PDF] | ||
87 | Hb J-Baltimore | β | VARIANT II | β-thal Short Program | 44.8 | 1.83 | Clinically normal. | [PDF] | ||
91 | Hb Acharnes | β | VARIANT II | β-thal Short Program | 82.8 | 2.47 | Unstable variant. Chronic hemolytic anemia. Elutes together with HbA0 or as a shoulder in the ascending part. | [PDF] | ||
95 | Hb Chad | α2 | VARIANT II | β-thal Short Program | 23.6 | 4.96 | Heterozygous. Clinically normal. | [PDF] | ||
99 | Hb Roanne | α1 or α2 | VARIANT II | β-thal Short Program | 89.1 | 2.43 | Heterozygote clinically normal. Elutes as HbA. | [PDF] | ||
104 | Hb Toulon | α2 | VARIANT II | β-thal Short Program | 25 | 3.57 | Heterozygote clinically normal. Elutes in the HbA2 window. | [PDF] | ||
107 | Hb D-Ouled Rabah | β | VARIANT II | β-thal Short Program | 75.1 | 3.57 | [PDF] | |||
111 | Hb Lyon-Bron | α2 | VARIANT II | β-thal Short Program | 30.1 | 1.82 | Heterozygous. Slightly decreased oxygen affinity, mild anaemia. | [PDF] | ||
116 | Hb Saint-Jacques | β | VARIANT II | β-thal Short Program | 80.5 | 2.56 | Heterozygous. Hb variant with increased oxygen affinity. | [PDF] | ||
118 | Hb Hamilton | β | VARIANT II | β-thal Short Program | 87.4 | 2.55 | Neutral variant, clinically normal. Elutes together with HbA on CE-HPLC. Abnormal chain could be observed by RP-HPLC. Diagnosis requires DNA studies. | [PDF] | ||
122 | Hb Gerland | α2 | VARIANT II | β-thal Short Program | 87.6 | 2.47 | ||||
127 | Hb Aubagne | β | VARIANT II | β-thal Short Program | 86.2 | 2.55 | Heterozygous. Unstable variant, mild hemolytic anaemia. Appears as a shoulder in the descending part of HbA0. | [PDF] | ||
131 | Hb Stanleyville-II | α2 | VARIANT II | β-thal Short Program | 29.7 | 4.31 | Heterozygous. Clinically normal. Elutes as HbS. | [PDF] | ||
135 | Hb J-Sardegna | α2 | VARIANT II | β-thal Short Program | 30.3 | 1.24 | Heterozygous. Elutes with HbF. DNA sequencing showed that the mutation leads to an Asn which is totally deamidated. | [PDF] | ||
139 | Hb Russ | α1 | VARIANT II | β-thal Short Program | 15.1 | 4.32 | Heterozygous. Elutes in HbS window. Clinically normal. | [PDF] | ||
143 | Hb K Woolwich | β | VARIANT II | β-thal Short Program | 34.4 | 1.29 | Clinically and hematologically normal. | [PDF] | ||
147 | Hb Maputo | β | VARIANT II | β-thal Short Program | 39.6 | 3.74 | Clinically normal. Elutes as HbA2. | [PDF] | ||
151 | Hb Brem-sur-Mer | β | VARIANT II | β-thal Short Program | 76.5 | 2.58 | Clinically and hematologically normal. Elutes as HbA. | [PDF] | ||
155 | Hb Fannin-Lubbock II | β | VARIANT II | β-thal Short Program | 36.1 | 1.91 | This variant carries in addition to the mutation of Hb Fannin Lubbock [Gly>Asp] a second neutral mutation [beta Val>Leu] which modifies the retention time in RP-HPLC. Clinically normal. | [PDF] | ||
163 | Hb Malmö | β | VARIANT II | β-thal Short Program | 18.3 | 1.7 | High oxygen affinity variant, leads to erythrocytosis. Elutes together with HbA or before according to the chromatographic system used. | [PDF] | ||
167 | Hb Lombard | α2 | VARIANT II | β-thal Short Program | 88.8 | 2.55 | Heterozygous. Elutes as a shoulder in the descending part of the HbA peak. | [PDF] | ||
172 | Hb J-Tongariki | α1 or α2 | VARIANT II | β-thal Short Program | 22.6 | 1.91 | Heterozygous. Associated with alpha 3.7 | [PDF] | ||
176 | Hb D-Iran | β | VARIANT II | β-thal Short Program | 40.4 | 3.56 | Carrier. Clinically normal. Elutes as HbA2 in CE-HPLC. Compound heterozygotes HbS/Hb D-Iran behave clinically as HbA/HbS. | [PDF] | ||
180 | Hb Yaounde | β | VARIANT II | β-thal Short Program | 75.2 | 2.55 | Clinically normal. Elutes as HbA. | [PDF] | ||
184 | Hb Dunn | α1 or α2 | VARIANT II | β-thal Short Program | 12.6 | 4.01 | Heterozygote. Elutes in HbD window. | [PDF] | ||
188 | Hb J-Toronto | α1 | VARIANT II | β-thal Short Program | 22.4 | 1.88 | Heterozygote. Clinically normal. | [PDF] | ||
192 | Hb Chicago | α2 | VARIANT II | β-thal Short Program | 85 | 2.5 | Heterozygous. Elutes as HbA. | [PDF] | ||
197 | Hb Hikari | β | VARIANT II | β-thal Short Program | 34.5 | 2.13 | Clinically normal. | [PDF] | ||
201 | Hb G-Szuhu | β | VARIANT II | β-thal Short Program | 34.5 | 2.13 | [PDF] | |||
205 | Hb Ambroise Pare | α2 | VARIANT II | β-thal Short Program | 83.3 | 2.5 | Heterozygous. Elutes with HbA. | [PDF] | ||
209 | Hb Groene Hart | α1 | VARIANT II | β-thal Short Program | 82.4 | 2.5 | Mild non-deletional alpha thal variant. Migrates as HbA. | [PDF] | ||
213 | Hb Q-Thailand | α1 | VARIANT II | β-thal Short Program | 86.9 | 4.38 | heterozygote | [PDF] | ||
218 | Hb Milledgeville | α2 | VARIANT II | β-thal Short Program | 22.3 | 2.26 | Heterozygous. Increased oxygen affinity leading to a mild erythrocytosis. | [PDF] | ||
222 | Hb Nunobiki | α2 | VARIANT II | β-thal Short Program | 12.7 | 1.6 | Heterozygous. Increased oxygen affinity leading to a mild erythrocytosis. | [PDF] | ||
239 | HbS | β | VARIANT II | β-thal Short Program | 91.1 | 4.45 | Sickle cell disease. The trace amount of HbA remains from a blood transfusion. | [PDF] | ||
243 | HbS | β | VARIANT II | β-thal Short Program | 75.3 | 4.43 | Homozygous HbS recently transfused. | [PDF] | ||
249 | HbS | β | VARIANT II | β-thal Short Program | 25.3 | 4.43 | HbS carrier with homozygous alpha + thalassemia. | [PDF] | ||
252 | HbS | β | VARIANT II | β-thal Short Program | 79.8 | 4.47 | Homozygous HbS. HbA remains from a blood transfusion. | [PDF] | ||
256 | Hb G-Philadelphia | α2 | VARIANT II | β-thal Short Program | 29 | 4.12 | Heterozygous. Eluates as HbD. Associated with alpha thal. | [PDF] | ||
260 | HbC | β | VARIANT II | β-thal Short Program | 25.1 | 5.11 | Hb AC + alpha thal. The presence of an alpha thalassemia reduces the level of HbC and increases the microcytosis. | [PDF] | ||
267 | HbC | β | VARIANT II | β-thal Short Program | 33.9 | 5.17 | heterozygote | [PDF] | ||
271 | Hb D-Iran | β | VARIANT II | β-thal Short Program | 38.7 | 3.54 | Heterozygous. Elutes as HbA2 in CE-HPLC. | [PDF] | ||
275 | Hb Hasharon | α1 | VARIANT II | β-thal Short Program | 20 | 4.82 | heterozygote | [PDF] | ||
279 | Hb Hopkins-II | α1 | VARIANT II | β-thal Short Program | 19 | 1.51 | heterozygote | [PDF] | ||
283 | Hb J-Bangkok | β | VARIANT II | β-thal Short Program | 38.7 | 1.92 | heterozygote | [PDF] | ||
287 | Hb J-Broussais | α2 | VARIANT II | β-thal Short Program | 28.1 | 1.65 | Heterozygote. Elutes near or with HbA1c. | [PDF] | ||
291 | Hb J-Paris-I | α1 | VARIANT II | β-thal Short Program | 26.2 | 1.71 | heterozygote | [PDF] | ||
295 | Hb J-Sardegna | α2 | VARIANT II | β-thal Short Program | 34.3 | 1.19 | Heterozygote. Elutes together with HbF. | [PDF] | ||
299 | Hb Le Lamentin | α2 | VARIANT II | β-thal Short Program | 25.6 | 1.49 | heterozygote | [PDF] | ||
303 | Hb O-Arab | β | VARIANT II | β-thal Short Program | 32.3 | 4.91 | Heterozygote, clinically normal. | [PDF] | ||
307 | Hb O-Padova | α2 | VARIANT II | β-thal Short Program | 16.7 | 4.79 | Heterozygote. Clinically normal. | [PDF] | ||
311 | Hb Q-India | α1 | VARIANT II | β-thal Short Program | 17.2 | 4.79 | Heterozygote. Clinically normal. | [PDF] | ||
315 | HbS | β | VARIANT II | β-thal Short Program | 36.9 | 4.43 | HbS homozygote, transfused. | [PDF] | ||
319 | Hb D-Ibadan | β | VARIANT II | β-thal Short Program | 39.1 | 3.94 | Carrier. Clinically normal. | [PDF] | ||
323 | Hb Valletta | β | VARIANT II | β-thal Short Program | 85.8 | 2.39 | Heterozygous. Elutes with HbA. Clinically normal. This mutation is usually linked in cis to HbF Malta. | [PDF] | ||
325 | Hb F-Malta-I | Gγ | VARIANT II | β-thal Short Program | 49.7 | 1.16 | Heterozygous. Elutes near to HbF. Clinically normal. Associated in cis to Hb Valletta. | [PDF] | ||
326 | Hb F-Malta-I | Gγ | VARIANT II | β-thal Short Program | 53.3 | 1.17 | Heterozygous. Elutes near to HbF. Clinically normal. Associated in cis to Hb Valletta. | [PDF] | ||
328 | Hb St. Luke's | α1 | VARIANT II | β-thal Short Program | 9.4 | 4.46 | Heterozygous. Elutes with HbS. | [PDF] | ||
329 | Hb St. Luke's | α1 | VARIANT II | β-thal Short Program | 8.8 | 4.58 | Heterozygous. Elutes with HbS. | [PDF] | ||
333 | Hb Sunshine Seth | α2 | VARIANT II | β-thal Short Program | 16 | 4.79 | heterozygote | [PDF] | ||
337 | HbE | β | VARIANT II | β-thal Short Program | 69.5 | 3.64 | Homozygote. | [PDF] | ||
341 | Hb Tacoma | β | VARIANT II | β-thal Short Program | 71.4 | 2.41 | Heterozygote carriers are clinically normal. | [PDF] | ||
345 | Hb Old Dominion/Burton-upon-Trent (OD/BuT) | β | VARIANT II | β-thal Short Program | 33.2 | 1.88 | heterozygote | [PDF] | ||
349 | Hb Hopkins-II | α1 | VARIANT II | β-thal Short Program | 10.3 | 1.6 | Heterozygote. | [PDF] | ||
353 | Hb G-Philadelphia | α2 | VARIANT II | β-thal Short Program | 21.5 | 4.13 | Heterozygous. Elutes as HbD. Associated with alpha thal. | [PDF] | ||
355 | Hb J-Bangkok | β | VARIANT II | β-thal Short Program | 34.5 | 2.02 | Clinically normal. Rare but found worldwide. | [PDF] | ||
359 | Hb Q-Iran | α2 | VARIANT II | β-thal Short Program | 21.2 | 4.85 | heterozygote | [PDF] | ||
363 | HbC | β | VARIANT II | β-thal Short Program | 18.5 | 4.86 | [PDF] | |||
367 | Hb Le Lamentin | α2 | VARIANT II | β-thal Short Program | 5.6 | 1.66 | heterozygote | [PDF] | ||
371 | Hb J-Meerut | α2 | VARIANT II | β-thal Short Program | 7.4 | 1.65 | heterozygote | [PDF] | ||
378 | Hb Seal Rock | α2 | VARIANT II | β-thal Short Program | 0.9 | 4.77 | Heterozygous. Modified C-terminal sequence. | [PDF] | ||
382 | Hb D-Punjab | β | VARIANT II | β-thal Short Program | 37.3 | 4.14 | heterozygote | [PDF] | ||
386 | Hb G-Accra | β | VARIANT II | β-thal Short Program | 43.5 | 3.89 | Normal in the heterozygote. | [PDF] | ||
390 | Hb Hope | β | VARIANT II | β-thal Short Program | 47.8 | 1.4 | In neonatal screening this Hb may be masked by the large amount of HbF and a baby compound heterozygous for HbS and Hb Hope may erroneously appear as an HbS homozygote. | [PDF] | ||
394 | Hb Austin | β | VARIANT II | β-thal Short Program | 45.8 | 1.75 | Normal in the heterozygote. | [PDF] | ||
398 | HbS | β | VARIANT II | β-thal Short Program | 27.5 | 4.43 | HbS carrier with alpha thalassemia (homoz. alpha 3.7). | [PDF] | ||
402 | HbS | β | VARIANT II | β-thal Short Program | 31.9 | 4.44 | HbS carrier + alpha-thal 2 (-3.7 del.). | [PDF] | ||
407 | Hb G-Copenhagen | β | VARIANT II | β-thal Short Program | 39.2 | 3.75 | Clinically normal. Elutes together with HbA2. | [PDF] | ||
411 | Hb G-San José | β | VARIANT II | β-thal Short Program | 36.6 | 4.6 | Clinically normal. Elutes in S Window. | [PDF] | ||
415 | HbC | β | VARIANT II | β-thal Short Program | 85.4 | 5.13 | Homozygote. | [PDF] | ||
419 | Hb Santa Clara | β | VARIANT II | β-thal Short Program | 45.9 | 1.66 | Heterozygote. | [PDF] | ||
423 | Hb D-Punjab | β | VARIANT II | β-thal Short Program | 28.8 | 4.08 | Heterozygous. Clinically normal in heterozygotes. Mild anemia in homozygotes. | [PDF] | ||
427 | Hb Hasharon | α1 | VARIANT II | β-thal Short Program | 27.1 | 4.82 | Heterozygote with alpha 3.7. Clinically normal in heterozygote. | [PDF] | ||
435 | HbE | β | VARIANT II | β-thal Short Program | 25.1 | 3.65 | heterozygote | [PDF] | ||
439 | Hb Abruzzo | β | VARIANT II | β-thal Short Program | 42 | 3.39 | Hb with increased oxygen affinity. | [PDF] | ||
443 | Hb G-San José | β | VARIANT II | β-thal Short Program | 33.3 | 4.6 | Clinically normal. Elutes in S Window. | [PDF] | ||
447 | Hb Roma | β | VARIANT II | β-thal Short Program | 3.33 | 4.6 | Elutes with HbA. | [PDF] | ||
450 | Hb Camperdown | β | VARIANT II | β-thal Short Program | 43.1 | 1.34 | Hb variant is mildly unstable. | [PDF] | ||
454 | Hb Randwick | β | VARIANT II | β-thal Short Program | 81.8 | 2.41 | Elutes with HbA. Mildly unstable. | [PDF] | ||
460 | HbE | β | VARIANT II | β-thal Short Program | 19.4 | 3.68 | HbE heterozygote with alpha-thal 1 heterozygote. | [PDF] | ||
464 | HbE | β | VARIANT II | β-thal Short Program | 27.1 | 3.68 | Association of HbE and Hb Constant Spring | [PDF] | ||
468 | HbS | β | VARIANT II | β-thal Short Program | 77.5 | 4.43 | Heterozygote for Hb S/beta zero thal (Beta(0) CD39 (C/T)). | [PDF] | ||
475 | Hb Shelby | β | VARIANT II | β-thal Short Program | 4.4 | 3.66 | heterozygote | [PDF] | ||
479 | Hb D-Punjab | β | VARIANT II | β-thal Short Program | 77.8 | 4.08 | Double heterozygote Hb D-Punjab and beta-thalassaemia. | [PDF] | ||
481 | Hb Siirt | β | VARIANT II | β-thal Short Program | 82.9 | 2.54 | Elutes together with HbA. | [PDF] | ||
484 | Hb Valletta | β | VARIANT II | β-thal Short Program | 66.1 | 2.65 | Compound heterozygote with Hb Lepore. Elutes as HbA0. | [PDF] | ||
495 | Hb Randwick | β | VARIANT II | β-thal Short Program | 66.8 | 2.66 | Double heterozygote for Hb Randwick and beta-thalassaemia. | [PDF] | ||
497 | HbS | β | VARIANT II | β-thal Short Program | 53.5 | 4.46 | Hb S/beta thal (probably a delta-beta thalassemia). | [PDF] | ||
501 | HbS | β | VARIANT II | β-thal Short Program | 11.8 | 4.36 | Newborn homozygous for HbS. The peak eluting at the position of HbA2 may be aged HbS. | [PDF] | ||
505 | HbS | β | VARIANT II | β-thal Short Program | 64.1 | 4.45 | HbS homozygous with HPFH. | [PDF] | ||
525 | HbS | β | VARIANT II | β-thal Short Program | 66 | 4.44 | Compound heterozygote for HbS and B (+) thalassemia | [PDF] | ||
531 | HbS | β | VARIANT II | β-thal Short Program | 45.9 | 4.45 | Compound heterozygote for HbS and HbC | [PDF] | ||
532 | HbC | β | VARIANT II | β-thal Short Program | 44.6 | 5.17 | Compound heterozygote for HbS and HbC | [PDF] | ||
538 | Hb D-Punjab | β | VARIANT II | β-thal Short Program | 41 | 4.06 | Compound heterozygote for HbS and Hb D-Punjab. | [PDF] | ||
539 | HbS | β | VARIANT II | β-thal Short Program | 37 | 4.42 | Compound heterozygote for HbS and Hb D-Punjab. | [PDF] | ||
544 | HbC | β | VARIANT II | β-thal Short Program | 60.5 | 5.15 | Compound heterozygote for HbC and (delta-beta) zero thalassaemia. | [PDF] | ||
548 | HbC | β | VARIANT II | β-thal Short Program | 61.8 | 5.16 | Compound heterozygote for HbC and beta-thalassaemia. | [PDF] | ||
550 | Hb Gouda | α2 | VARIANT II | β-thal Short Program | 31.1 | 1.7 | heterozygote | [PDF] | ||
554 | Hb A2' or Hb B2 | δ | VARIANT II | β-thal Short Program | 4.55 | 0.9 | Homozygous. | [PDF] | ||
557 | Hb N-Baltimore | β | VARIANT II | β-thal Short Program | 81.3 | 1.61 | Hb N-Baltimore / Beta zero thalassaemia. Clinical normal. | [PDF] | ||
561 | HbS | β | VARIANT II | β-thal Short Program | 32.5 | 4.46 | HbS carrier + alpha-thal 2 (-3.7 deletion). | [PDF] | ||
566 | HbE | β | VARIANT II | β-thal Short Program | 51.6 | 3.69 | Association of HbE and beta-thalassaemia. | [PDF] | ||
572 | HbC | β | VARIANT II | β-thal Short Program | 47.7 | 5.15 | Compound heterozygote for HbC and Hb O-Arab. | [PDF] | ||
573 | Hb O-Arab | β | VARIANT II | β-thal Short Program | 46.1 | 4.9 | Compound heterozygosity for HbC and Hb O Arab (extremely rare). This situation is important to be identified for genetic counselling since both alleles when associated to HbS lead to a severe sickle cell syndrome. | [PDF] | ||
578 | Hb Mexico | α1 | VARIANT II | β-thal Short Program | 27.7 | 1.82 | Heterozygous. | [PDF] | ||
583 | HbI | α1 | VARIANT II | β-thal Short Program | 14.9 | 1.4 | heterozygote | [PDF] | ||
587 | Hb Lepore-Boston-Washington | δ | VARIANT II | β-thal Short Program | 11.1 | 3.55 | Mild microcytic anaemia. Elutes together with HbA2 in CE-HPLC. | [PDF] | ||
587 | Hb Lepore-Boston-Washington | β | VARIANT II | β-thal Short Program | 11.1 | 3.55 | Mild microcytic anaemia. Elutes together with HbA2 in CE-HPLC. | [PDF] | ||
591 | Hb M-Milwaukee-2 | β | VARIANT II | β-thal Short Program | 34.1 | 5.15 | Congenital methemoglobinemia. | [PDF] | ||
595 | Hb Lepore-Boston-Washington | δ | VARIANT II | β-thal Short Program | 10.8 | 3.5 | Mild microcytic anaemia. Elutes together with HbA2 in CE-HPLC. | [PDF] | ||
595 | Hb Lepore-Boston-Washington | β | VARIANT II | β-thal Short Program | 10.8 | 3.5 | Mild microcytic anaemia. Elutes together with HbA2 in CE-HPLC. | [PDF] | ||
597 | HbI | α1 | VARIANT II | β-thal Short Program | 18.1 | 1.43 | Heterozygote. | [PDF] | ||
601 | Hb Aichi | α1 or α2 | VARIANT II | β-thal Short Program | 21.1 | 4.33 | Heterozygous. Elutes as HbS. | [PDF] | ||
610 | Hb Setif | α2 | VARIANT II | β-thal Short Program | 13.2 | 4.74 | Heterozygote. | [PDF] | ||
612 | HbS | β | VARIANT II | β-thal Short Program | 37.9 | 4.46 | HbS carrier with Hb Montgomery (alpha variant). | [PDF] | ||
613 | Hb Montgomery | α2 | VARIANT II | β-thal Short Program | 6.3 | 4.98 | Heterozygous. Association with HbS. | [PDF] | ||
2 | Hb I-Interlaken | α1 | VARIANT | β-thal Short Program | 24.9 | 1.62 | Heterozygous | [PDF] | ||
7 | HbS | β | VARIANT | β-thal Short Program | 34.5 | 4.26 | Heterozygous / Sickle Cell Trait | [PDF] | ||
15 | HbC | β | VARIANT | β-thal Short Program | 84.2 | 5.09 | Compound heterozygous with CD 39. Could be confused with HbC homozygous. A2 level and hematological data suggest an associated beta-thal. | [PDF] | ||
43 | HbS | β | VARIANT | β-thal Short Program | 77.2 | 4.3 | Compoud heterozygote between HbS and beta (0) thal. | [PDF] | ||
46 | HbS | β | VARIANT | β-thal Short Program | 22.9 | 4.35 | HbS heterozygote with alpha thalassaemia (HbS + alpha-thal 2). | [PDF] | ||
50 | Hb Siirt | β | VARIANT | β-thal Short Program | 82.3 | 2.5 | Heterozygote clinically normal, the mild thalassemic syndrome observed may be in relation with the associated alpha gene abnormality (triple alpha). Hb Siirt elutes together with HbA. | [PDF] | ||
67 | Hb Dhofar | β | VARIANT | β-thal Short Program | 13.9 | 3.84 | Thalassemic Hb (in cis with a beta (+)-thalassemic mutation). | [PDF] | ||
71 | Hb Pierre-Bénite | β | VARIANT | β-thal Short Program | 84.8 | 2.33 | This variant displays a high oxygen affinity and leads to erythrocytosis. Elutes as HbA0. | [PDF] | ||
74 | Hb Bicêtre | β | VARIANT | β-thal Short Program | 80.6 | 2.34 | Unstable variant. Elutes with HbA. | [PDF] | ||
78 | Hb M-Saskatoon | β | VARIANT | β-thal Short Program | 9.3 | 4.91 | Methemoglobinemia and unstable variant. | [PDF] | ||
86 | Hb J-Baltimore | β | VARIANT | β-thal Short Program | 40.8 | 1.8 | Clinically normal. | [PDF] | ||
90 | Hb Acharnes | β | VARIANT | β-thal Short Program | 30.2 | 2.28 | Unstable variant. Chronic hemolytic anemia. Elutes together with HbA0 or as a shoulder in the ascending part. | [PDF] | ||
94 | Hb Chad | α2 | VARIANT | β-thal Short Program | 25.2 | 4.89 | Heterozygous. Clinically normal. | [PDF] | ||
98 | Hb Roanne | α1 or α2 | VARIANT | β-thal Short Program | 88.5 | 2.48 | Heterozygote clinically normal. Elutes as HbA. | [PDF] | ||
103 | Hb Toulon | α2 | VARIANT | β-thal Short Program | 23.9 | 3.52 | Heterozygote clinically normal. Elutes in the HbA2 window. | [PDF] | ||
106 | Hb D-Ouled Rabah | β | VARIANT | β-thal Short Program | 76.7 | 3.58 | [PDF] | |||
110 | Hb Lyon-Bron | α2 | VARIANT | β-thal Short Program | 30.7 | 1.73 | Heterozygous. Slightly decreased oxygen affinity, mild anaemia. | [PDF] | ||
115 | Hb Saint-Jacques | β | VARIANT | β-thal Short Program | 79.2 | 2.5 | Heterozygous. Hb variant with increased oxygen affinity. | [PDF] | ||
121 | Hb Gerland | α2 | VARIANT | β-thal Short Program | 85.7 | 2.46 | Heterozygous. Elutes with HbA. Clinically asymptomatic neutral alpha chain variant. | [PDF] | ||
124 | Hb Henri Mondor | β | VARIANT | β-thal Short Program | 35.7 | 2.92 | Mild microcytic anaemia. | [PDF] | ||
126 | Hb Aubagne | β | VARIANT | β-thal Short Program | 85.2 | 2.47 | Heterozygous. Unstable variant, mild hemolytic anaemia. Appears as a shoulder in the descending part of HbA0. | [PDF] | ||
130 | Hb Stanleyville-II | α2 | VARIANT | β-thal Short Program | 29.9 | 4.18 | Heterozygous. Clinically normal. Elutes as HbS. | [PDF] | ||
134 | Hb J-Sardegna | α2 | VARIANT | β-thal Short Program | 29.3 | 1.28 | Heterozygous. Elutes with HbF. DNA sequencing showed that the mutation leads to an Asn which is totally deamidated. | [PDF] | ||
138 | Hb Russ | α1 | VARIANT | β-thal Short Program | 15.7 | 4.18 | Heterozygous. Elutes in HbS window. Clinically normal. | [PDF] | ||
142 | Hb K Woolwich | β | VARIANT | β-thal Short Program | 35.2 | 1.29 | Clinically and hematologically normal. | [PDF] | ||
146 | Hb Maputo | β | VARIANT | β-thal Short Program | 40.9 | 3.72 | Clinically normal. Elutes as HbA2. | [PDF] | ||
150 | Hb Brem-sur-Mer | β | VARIANT | β-thal Short Program | 72.1 | 2.4 | Clinically and hematologically normal. Elutes as HbA. | [PDF] | ||
154 | Hb Fannin-Lubbock II | β | VARIANT | β-thal Short Program | 36.5 | 1.82 | This variant carries in addition to the mutation of Hb Fannin Lubbock [Gly>Asp] a second neutral mutation [beta Val>Leu] which modifies the retention time in RP-HPLC. Clinically normal. | [PDF] | ||
158 | Hb Passy | α2 | VARIANT | β-thal Short Program | 78.1 | 2.44 | Heterozygous. Elutes with HbA. Unstable variant. | [PDF] | ||
160 | Hb Handsworth | α1 | VARIANT | β-thal Short Program | 0.7 | 4.7 | Heterozygous. Clinically normal. | [PDF] | ||
162 | Hb Shimonoseki | α1 | VARIANT | β-thal Short Program | 14.5 | 4.21 | Heterozygous. Elutes as HbS. | [PDF] | ||
166 | Hb Lombard | α2 | VARIANT | β-thal Short Program | 87 | 2.45 | Heterozygous. Elutes with HbA. | [PDF] | ||
171 | Hb J-Tongariki | α1 or α2 | VARIANT | β-thal Short Program | 21.8 | 1.82 | Heterozygous. Associated with alpha 3.7 | [PDF] | ||
175 | Hb D-Iran | β | VARIANT | β-thal Short Program | 40.3 | 3.55 | Carrier. Clinically normal. Elutes as HbA2 in CE-HPLC. Compound heterozygotes HbS/Hb D-Iran behave clinically as HbA/HbS. | [PDF] | ||
179 | Hb Yaounde | β | VARIANT | β-thal Short Program | 76.5 | 2.46 | Clinically normal. Elutes as HbA. | [PDF] | ||
183 | Hb Dunn | α1 or α2 | VARIANT | β-thal Short Program | 13.2 | 3.95 | Heterozygote. Elutes in HbD window. | [PDF] | ||
187 | Hb J-Tongariki | α1 or α2 | VARIANT | β-thal Short Program | 19.3 | 1.78 | Heterozygous. Associated with alpha 3.7 | [PDF] | ||
191 | Hb Chicago | α2 | VARIANT | β-thal Short Program | 84 | 2.47 | Heterozygous. Elutes as HbA. | [PDF] | ||
196 | Hb Hikari | β | VARIANT | β-thal Short Program | 35.3 | 2.04 | Clinically normal. | [PDF] | ||
200 | Hb G-Szuhu | β | VARIANT | β-thal Short Program | 37.7 | 4.54 | Clinically normal. | [PDF] | ||
204 | Hb Ambroise Pare | α2 | VARIANT | β-thal Short Program | 81.5 | 2.44 | Heterozygous. Elutes with HbA. | [PDF] | ||
208 | Hb Groene Hart | α1 | VARIANT | β-thal Short Program | 81.9 | 2.46 | Mild non-deletional alpha thal variant. Migrates as HbA. | [PDF] | ||
212 | Hb Q-Thailand | α1 | VARIANT | β-thal Short Program | 22.9 | 4.51 | heterozygote | [PDF] | ||
215 | Hb D-Punjab | β | VARIANT | β-thal Short Program | 80.7 | 4.05 | Clinically normal in heterozygotes. Mild anemia in homozygotes. Causes a severe sickle cell disease when associated to HbS. | [PDF] | ||
217 | Hb Milledgeville | α2 | VARIANT | β-thal Short Program | 18.4 | 2.19 | Heterozygous. Increased oxygen affinity leading to a mild erythrocytosis. | [PDF] | ||
221 | Hb Nunobiki | α2 | VARIANT | β-thal Short Program | 12.8 | 1.51 | Heterozygous. Increased oxygen affinity leading to a mild erythrocytosis. | [PDF] | ||
225 | Hb Summer Hill | β | VARIANT | β-thal Short Program | 38.4 | 4.24 | Heterozygote. Clinically normal. Elutes in HbS window. | [PDF] | ||
227 | Hb Fort de France | α1 | VARIANT | β-thal Short Program | 16.3 | 3.52 | Heterozygote. Elutes in the window of HbA2. | [PDF] | ||
229 | Hb J-Broussais | α2 | VARIANT | β-thal Short Program | 24.8 | 1.62 | Heterozygote. Elutes near or with HbA1c. Clinically normal. | [PDF] | ||
231 | HbS | β | VARIANT | β-thal Short Program | 38.4 | 4.24 | Homozygote. Classical chromatogram of an SS patient. | [PDF] | ||
234 | Hb K-Ibadan | β | VARIANT | β-thal Short Program | 32 | 1.99 | Heterozygote. Clinically normal. | [PDF] | ||
238 | HbS | β | VARIANT | β-thal Short Program | 90.4 | 4.26 | Sickle cell disease. The trace amount of HbA remains from a blood transfusion. | [PDF] | ||
242 | HbS | β | VARIANT | β-thal Short Program | 74.5 | 4.26 | Homozygous HbS recently transfused. | [PDF] | ||
248 | HbS | β | VARIANT | β-thal Short Program | 22.4 | 4.25 | HbS carrier with homozygous alpha + thalassemia. | [PDF] | ||
255 | Hb G-Philadelphia | α2 | VARIANT | β-thal Short Program | 26.7 | 4.01 | Heterozygous. Eluates as HbD. Associated with alpha thal. | [PDF] | ||
259 | HbC | β | VARIANT | β-thal Short Program | 23.8 | 5.03 | Hb AC + alpha thal. The presence of an alpha thalassemia reduces the level of HbC and increases the microcytosis. | [PDF] | ||
263 | HbS | β | VARIANT | β-thal Short Program | 80.8 | 4.38 | Classical chromatogram of a SS patient, the high HbF level suggests that the patient may be heterozygote (or perhaps homozygote) for one of the haplotype stimulating HbF synthesis. | [PDF] | ||
266 | HbC | β | VARIANT | β-thal Short Program | 37.6 | 4 | heterozygote | [PDF] | ||
270 | Hb D-Iran | β | VARIANT | β-thal Short Program | 38 | 3.56 | Heterozygous. Elutes as HbA2 in CE-HPLC. | [PDF] | ||
274 | Hb Hasharon | α1 | VARIANT | β-thal Short Program | 19.5 | 4.74 | heterozygote | [PDF] | ||
278 | Hb Hopkins-II | α1 | VARIANT | β-thal Short Program | 19.3 | 1.5 | heterozygote | [PDF] | ||
282 | Hb J-Bangkok | β | VARIANT | β-thal Short Program | 38.7 | 1.9 | heterozygote | [PDF] | ||
286 | Hb J-Broussais | α2 | VARIANT | β-thal Short Program | 27.8 | 1.62 | Heterozygote. Elutes near or with HbA1c. | [PDF] | ||
290 | Hb J-Paris-I | α1 | VARIANT | β-thal Short Program | 26.3 | 1.7 | heterozygote | [PDF] | ||
294 | Hb J-Sardegna | α2 | VARIANT | β-thal Short Program | 34.8 | 1.18 | Heterozygote. Elutes together with HbF. | [PDF] | ||
298 | Hb Le Lamentin | α2 | VARIANT | β-thal Short Program | 25.4 | 1.51 | heterozygote | [PDF] | ||
302 | Hb O-Arab | β | VARIANT | β-thal Short Program | 32.9 | 4.3 | Heterozygote, clinically normal. | [PDF] | ||
306 | Hb O-Padova | α2 | VARIANT | β-thal Short Program | 15.3 | 4.73 | Heterozygote. Clinically normal. | [PDF] | ||
310 | Hb Q-India | α1 | VARIANT | β-thal Short Program | 17.3 | 4.7 | Heterozygote. Clinically normal. | [PDF] | ||
314 | HbS | β | VARIANT | β-thal Short Program | 36.4 | 4.31 | HbS homozygote, transfused. | [PDF] | ||
318 | Hb D-Ibadan | β | VARIANT | β-thal Short Program | 39.1 | 3.85 | Carrier. Clinically normal. | [PDF] | ||
322 | Hb Valletta | β | VARIANT | β-thal Short Program | 87 | 2.46 | Heterozygous. Elutes with HbA. Clinically normal. This mutation is usually linked in cis to HbF Malta. | [PDF] | ||
332 | Hb Sunshine Seth | α2 | VARIANT | β-thal Short Program | 18.8 | 4.71 | heterozygote | [PDF] | ||
336 | HbE | β | VARIANT | β-thal Short Program | 76.4 | 3.65 | Homozygote. | [PDF] | ||
340 | Hb Tacoma | β | VARIANT | β-thal Short Program | 72.1 | 2.41 | Heterozygote carriers are clinically normal. | [PDF] | ||
344 | Hb Old Dominion/Burton-upon-Trent (OD/BuT) | β | VARIANT | β-thal Short Program | 32.6 | 1.85 | heterozygote | [PDF] | ||
348 | Hb Hopkins-II | α1 | VARIANT | β-thal Short Program | 12.5 | 1.46 | Heterozygote. | [PDF] | ||
352 | Hb G-Philadelphia | α2 | VARIANT | β-thal Short Program | 21.7 | 4.04 | Heterozygous. Associated with alpha thal. | [PDF] | ||
358 | Hb Gouda | α2 | VARIANT | β-thal Short Program | 30.9 | 1.64 | Heterozygote. Clinically normal. | [PDF] | ||
362 | HbC | β | VARIANT | β-thal Short Program | 79.4 | 5.06 | HbC homozygous or compound heterozygous with beta zero thalassaemia. | [PDF] | ||
366 | Hb Le Lamentin | α2 | VARIANT | β-thal Short Program | 33 | 1.49 | heterozygote | [PDF] | ||
370 | Hb J-Meerut | α2 | VARIANT | β-thal Short Program | 17.6 | 1.86 | heterozygote | [PDF] | ||
374 | Hb Winnipeg | α1 | VARIANT | β-thal Short Program | 18 | 4.74 | Heterozygote. | [PDF] | ||
377 | Hb Seal Rock | α2 | VARIANT | β-thal Short Program | 1.9 | 4.7 | Heterozygous. Modified C-terminal sequence. | [PDF] | ||
381 | Hb D-Punjab | β | VARIANT | β-thal Short Program | 37.4 | 4.08 | heterozygote | [PDF] | ||
385 | Hb G-Accra | β | VARIANT | β-thal Short Program | 43.9 | 3.88 | Normal in the heterozygote. | [PDF] | ||
389 | Hb Hope | β | VARIANT | β-thal Short Program | 47.3 | 1.36 | In neonatal screening this Hb may be masked by the large amount of HbF and a baby compound heterozygous for HbS and Hb Hope may erroneously appear as an HbS homozygote. | [PDF] | ||
393 | Hb Austin | β | VARIANT | β-thal Short Program | 45.6 | 1.64 | Normal in the heterozygote. | [PDF] | ||
397 | HbS | β | VARIANT | β-thal Short Program | 28.2 | 4.3 | HbS carrier with alpha thalassemia (homoz. alpha 3.7). | [PDF] | ||
401 | HbS | β | VARIANT | β-thal Short Program | 32 | 4.33 | HbS carrier + alpha-thal 2 (-3.7 del.). | [PDF] | ||
404 | Hb N-Baltimore | β | VARIANT | β-thal Short Program | 83.7 | 1.65 | [PDF] | |||
406 | Hb G-Copenhagen | β | VARIANT | β-thal Short Program | 40.6 | 3.74 | Clinically normal. Elutes together with HbA2. | [PDF] | ||
410 | Hb G-San José | β | VARIANT | β-thal Short Program | 34.5 | 4.54 | Clinically normal. | [PDF] | ||
414 | HbC | β | VARIANT | β-thal Short Program | 82.3 | 5.06 | Homozygote. | [PDF] | ||
418 | Hb Santa Clara | β | VARIANT | β-thal Short Program | 46.7 | 1.65 | Heterozygote. | [PDF] | ||
422 | Hb D-Punjab | β | VARIANT | β-thal Short Program | 28 | 3.99 | Heterozygous. Clinically normal in heterozygotes. Mild anemia in homozygotes. | [PDF] | ||
426 | Hb Hasharon | α1 | VARIANT | β-thal Short Program | 25.7 | 4.74 | Heterozygote with alpha 3.7. Clinically normal in heterozygote. | [PDF] | ||
430 | Hb Hasharon | α1 | VARIANT | β-thal Short Program | 27.9 | 4.74 | Heterozygote with alpha 3.7. Clinically normal in heterozygote. | [PDF] | ||
434 | HbE | β | VARIANT | β-thal Short Program | 25 | 3.63 | heterozygote | [PDF] | ||
442 | Hb G-San José | β | VARIANT | β-thal Short Program | 31.3 | 4.52 | Clinically normal. | [PDF] | ||
446 | Hb Roma | β | VARIANT | β-thal Short Program | 31.3 | 4.52 | Elutes with HbA. | [PDF] | ||
449 | Hb Camperdown | β | VARIANT | β-thal Short Program | 45.9 | 1.29 | Hb variant is mildly unstable. | [PDF] | ||
453 | Hb Randwick | β | VARIANT | β-thal Short Program | 82.6 | 2.38 | Elutes with HbA. Mildly unstable. | [PDF] | ||
459 | HbE | β | VARIANT | β-thal Short Program | 17.7 | 3.64 | HbE heterozygote with alpha-thal 1 heterozygote. | [PDF] | ||
463 | HbE | β | VARIANT | β-thal Short Program | 25.3 | 3.68 | Association of HbE and Hb Constant Spring | [PDF] | ||
471 | Hb Shelby | β | VARIANT | β-thal Short Program | 10.6 | 3.61 | Compound heterozygous Hb Shelby / Beta zero Thalassemia. | [PDF] | ||
474 | Hb Shelby | β | VARIANT | β-thal Short Program | 3.9 | 3.62 | heterozygote | [PDF] | ||
478 | Hb D-Punjab | β | VARIANT | β-thal Short Program | 73.7 | 4.01 | Double heterozygote Hb D-Punjab and beta-thalassaemia. | [PDF] | ||
483 | Hb Valletta | β | VARIANT | β-thal Short Program | 66.4 | 2.58 | Compound heterozygote with Hb Lepore. Elutes as HbA0. | [PDF] | ||
489 | HbC | β | VARIANT | β-thal Short Program | 32 | 5.1 | compound heterozygote for HbC and Hb Korle Bu | [PDF] | ||
491 | HbS | β | VARIANT | β-thal Short Program | 31.4 | 4.37 | compound heterozygote for HbC and HbS | [PDF] | ||
492 | HbC | β | VARIANT | β-thal Short Program | 29.9 | 5.11 | Compound heterozygote for HbC and HbS. Recently transfused. | [PDF] | ||
494 | Hb Randwick | β | VARIANT | β-thal Short Program | 67.7 | 2.64 | Double heterozygote for Hb Randwick and beta-thalassaemia. | [PDF] | ||
500 | HbS | β | VARIANT | β-thal Short Program | 12 | 4.22 | Newborn homozygous for HbS. The peak eluting at the position of HbA2 may be aged HbS. | [PDF] | ||
504 | HbS | β | VARIANT | β-thal Short Program | 62.8 | 4.26 | HbS homozygous with HPFH. | [PDF] | ||
507 | HbS | β | VARIANT | β-thal Short Program | 79.7 | 4.37 | Homozygous HbS. HbA remains from a blood transfusion. | [PDF] | ||
510 | HbS | β | VARIANT | β-thal Short Program | 45.1 | 4.35 | Compound heterozygote for HbS and HbC | [PDF] | ||
511 | HbC | β | VARIANT | β-thal Short Program | 45.8 | 5.1 | Compound heterozygote for HbC and HbS | [PDF] | ||
515 | HbS | β | VARIANT | β-thal Short Program | 74.6 | 4.38 | Compound heterozygote for HbS and Beta (+) thal | [PDF] | ||
519 | HbS | β | VARIANT | β-thal Short Program | 45.8 | 4.37 | Compound heterozygote for HbS and HbC | [PDF] | ||
524 | HbS | β | VARIANT | β-thal Short Program | 64.2 | 4.32 | Compound heterozygote for HbS and B (+) thalassemia | [PDF] | ||
529 | HbS | β | VARIANT | β-thal Short Program | 44.7 | 4.36 | Compound heterozygote for HbS and HbC | [PDF] | ||
530 | HbC | β | VARIANT | β-thal Short Program | 45.9 | 5.11 | Compound heterozygote for HbS and HbC | [PDF] | ||
536 | Hb D-Punjab | β | VARIANT | β-thal Short Program | 40.7 | 4 | Compound heterozygote for HbS and Hb D-Punjab. | [PDF] | ||
537 | HbS | β | VARIANT | β-thal Short Program | 40.2 | 4.3 | Compound heterozygote for HbS and Hb D-Punjab | [PDF] | ||
543 | HbC | β | VARIANT | β-thal Short Program | 61.1 | 5.1 | Compound heterozygote for HbC and (delta-beta) zero thalassaemia. | [PDF] | ||
547 | HbC | β | VARIANT | β-thal Short Program | 62 | 5.1 | Compound heterozygote for HbC and beta-thalassaemia. | [PDF] | ||
553 | Hb A2' or Hb B2 | δ | VARIANT | β-thal Short Program | 1.5 | 4.47 | [PDF] | |||
560 | HbS | β | VARIANT | β-thal Short Program | 31.6 | 4.35 | HbS carrier + alpha-thal 2 (-3.7 deletion). | [PDF] | ||
565 | HbE | β | VARIANT | β-thal Short Program | 47 | 3.73 | Association of HbE and beta-thalassaemia. | [PDF] | ||
570 | HbC | β | VARIANT | β-thal Short Program | 47.7 | 5.12 | Compound heterozygote for HbC and Hb O-Arab. | [PDF] | ||
571 | Hb O-Arab | β | VARIANT | β-thal Short Program | 44.8 | 4.85 | Compound heterozygosity for HbC and Hb O Arab (extremely rare). This situation is important to be identified for genetic counselling since both alleles when associated to HbS lead to a severe sickle cell syndrome. | [PDF] | ||
577 | Hb Mexico | α1 | VARIANT | β-thal Short Program | 27.8 | 1.75 | Heterozygous. | [PDF] | ||
582 | HbI | α1 | VARIANT | β-thal Short Program | 14.8 | 1.39 | heterozygote | [PDF] | ||
586 | Hb Lepore-Boston-Washington | δ | VARIANT | β-thal Short Program | 10.5 | 3.5 | Mild microcytic anaemia. Elutes together with HbA2 in CE-HPLC. | [PDF] | ||
586 | Hb Lepore-Boston-Washington | β | VARIANT | β-thal Short Program | 10.5 | 3.5 | Mild microcytic anaemia. Elutes together with HbA2 in CE-HPLC. | [PDF] | ||
590 | Hb M-Milwaukee-2 | β | VARIANT | β-thal Short Program | 34.9 | 5.08 | Congenital methemoglobinemia. | [PDF] | ||
594 | Hb Lepore-Boston-Washington | δ | VARIANT | β-thal Short Program | 9.7 | 3.42 | Mild microcytic anaemia. Elutes together with HbA2 in CE-HPLC. | [PDF] | ||
594 | Hb Lepore-Boston-Washington | β | VARIANT | β-thal Short Program | 9.7 | 3.42 | Mild microcytic anaemia. Elutes together with HbA2 in CE-HPLC. | [PDF] | ||
600 | Hb Aichi | α1 or α2 | VARIANT | β-thal Short Program | 19.7 | 4.17 | Heterozygous. Elutes as HbS. | [PDF] | ||
604 | Hb Setif | α2 | VARIANT | β-thal Short Program | 3.5 | 1.6 | Heterozygote. Elutes with HbA. | [PDF] | ||
609 | Hb Setif | α2 | VARIANT | β-thal Short Program | 14.5 | 4.66 | Heterozygote. | [PDF] | ||
40 | HbC | β | VARIANT II | Dual Kit Program - HbA1c | 41.7 | 2.04 | heterozygote | [PDF] | ||
41 | Hb D-Punjab | β | VARIANT II | Dual Kit Program - HbA1c | 42.2 | 1.83 | Heterozygous; Clinically normal in heterozygotes. Mild anemia in homozygotes. Causes a severe sickle cell disease when associated to HbS. | [PDF] | ||
42 | HbS | β | VARIANT II | Dual Kit Program - HbA1c | 44.7 | 1.88 | Heterozygous / Sickle Cell Trait | [PDF] | ||
64 | HbE | β | VARIANT II | Dual Kit Program - HbA1c | 85.9 | 1.737 | homozygote | [PDF] | ||
456 | HbS | β | VARIANT II | Dual Kit Program - HbA1c | 44.9 | 2.035 | Compound heterozygote between HbS and HbC | [PDF] | ||
457 | HbS | β | VARIANT II | Dual Kit Program - HbA1c | 85.6 | 1.87 | Classic chromatogram of an SS patient. | [PDF] | ||
11 | HbS | β | VARIANT II | HbA1c Program | 39.2 | 1.94 | Sickle Cell Trait | [PDF] | ||
13 | HbS | β | VARIANT II | HbA1c Program | 84.4 | 1.93 | Homozygous | [PDF] | ||
19 | HbE | β | VARIANT II | HbA1c Program | 30.3 | 1.86 | Heterozygous | [PDF] | ||
21 | HbE | β | VARIANT II | HbA1c Program | 80.1 | 1.84 | Homozygous | [PDF] | ||
23 | Hb D-Punjab | β | VARIANT II | HbA1c Program | 40 | 1.9 | Heterozygous; Clinically normal in heterozygotes. Mild anemia in homozygotes. Causes a severe sickle cell disease when associated to HbS. | [PDF] | ||
25 | Hb O-Arab | β | VARIANT II | HbA1c Program | 31.3 | 2.02 | Heterozygous; Heterozygote clinically normal. Homozygote present with a mild microcytic anemia. When associated to HbS leads to a severe sickle cell anemia. | [PDF] | ||
29 | HbS | β | VARIANT II | HbA1c Program | 39.2 | 1.94 | Heterozygote / Sickle Cell Trait | [PDF] | ||
31 | Hb D-Punjab | β | VARIANT II | HbA1c Program | 40 | 1.9 | Heterozygote; Heterozygous; Clinically normal in heterozygotes. Mild anemia in homozygotes. Causes a severe sickle cell disease when associated to HbS. | [PDF] | ||
33 | HbC | β | VARIANT II | HbA1c Program | 37.1 | 2.11 | Heterozygote | [PDF] | ||
35 | HbC | β | VARIANT II | HbA1c Program | 97 | 2.1 | Homozygote; HbC homozygote does not lead to a thal intermedia but to a mild microcytic anemia. | [PDF] | ||
466 | HbS | β | VARIANT II | HbA1c Program | 52.1 | 1.94 | Compound heterozygote between HbS and HbC | [PDF] | ||
10 | HbS | β | D-10 | HbA1c Program | 40 | 1.65 | Heterozygous / Sickle Cell Trait | [PDF] | ||
12 | HbS | β | D-10 | HbA1c Program | 81.2 | 1.65 | Homozygous | [PDF] | ||
18 | HbE | β | D-10 | HbA1c Program | 31.4 | 1.59 | Heterozygous | [PDF] | ||
20 | HbE | β | D-10 | HbA1c Program | 80.8 | 1.58 | Homozygous | [PDF] | ||
22 | Hb D-Punjab | β | D-10 | HbA1c Program | 41.5 | 1.63 | Heterozygous; Clinically normal in heterozygotes. Mild anemia in homozygotes. Causes a severe sickle cell disease when associated to HbS. | [PDF] | ||
24 | Hb O-Arab | β | D-10 | HbA1c Program | 64.9 | 1.49 | Heterozygous; Heterozygote clinically normal. Homozygote present with a mild microcytic anemia. When associated to HbS leads to a severe sickle cell anemia. | [PDF] | ||
30 | Hb D-Punjab | β | D-10 | HbA1c Program | 41.5 | 1.63 | Heterozygous; Clinically normal in heterozygotes. Mild anemia in homozygotes. Causes a severe sickle cell disease when associated to HbS. | [PDF] | ||
32 | HbC | β | D-10 | HbA1c Program | 46.5 | 1.77 | Heterozygote | [PDF] | ||
34 | HbC | β | D-10 | HbA1c Program | 89 | 1.76 | Homozygote; HbC homozygote does not lead to a thal intermedia but to a mild microcytic anemia. | [PDF] | ||
36 | HbS | β | D-10 | HbA1c Program | 38.2 | 1.77 | Compound heterozygote between HbS and HbC | [PDF] |
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