IthaID: 1218
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Pathogenic / Likely Pathogenic |
|---|---|---|---|
| Common Name: | CD 121 GAA>AAA | HGVS Name: | HBB:c.364G>A |
| Hb Name: | Hb O-Arab | Protein Info: | β 121(GH4) Glu>Lys |
Context nucleotide sequence:
TGTGCTGGCCCATCACTTTGGCAAA [G/A] AATTCACCCCACCAGTGCAGGCTGC (Strand: -)
Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKKFTPPVQAAYQKVVAGVANALAHKYH
Also known as: Hb Egypt, Hb O-Thrace
We follow the HGVS sequence variant nomenclature and IUPAC standards.
Phenotype
| Hemoglobinopathy Group: | Structural Haemoglobinopathy |
|---|---|
| Hemoglobinopathy Subgroup: | β-chain variant |
| Allele Phenotype: | N/A |
| Stability: | N/A |
| Oxygen Affinity: | N/A |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 71938 |
| Size: | 1 bp |
| Located at: | β |
| Specific Location: | Exon 3 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | Missense codons (Protein Structure) |
| Ethnic Origin: | African | Arabian | Egyptian | Balkanese |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
HPLC
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To access HPLC images and reports for different variants, use the IthaChrom tool.
| ID | Hb Variant | Gene | Instrument | Method | Area (%) | Ret Time (min) | Comments | ||
|---|---|---|---|---|---|---|---|---|---|
| 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] | |
| 301 | Hb O-Arab | β | D-10 | Dual Kit Program | 29.4 | 4.57 | Heterozygote, clinically normal. | [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] | |
| 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] | |
| 302 | Hb O-Arab | β | VARIANT | β-thal Short Program | 32.9 | 4.3 | Heterozygote, clinically normal. | [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] | |
| 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] | |
| 304 | Hb O-Arab | β | VARIANT II | Dual Kit Program | 30.6 | 4.01 | Heterozygote, clinically normal. | [PDF] | |
| 303 | Hb O-Arab | β | VARIANT II | β-thal Short Program | 32.3 | 4.91 | Heterozygote, clinically normal. | [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] |
In silico pathogenicity prediction
Frequencies
Publications / Origin
- Vella F, Beale D, Lehmann H, Haemoglobin O Arab in Sudanese., Nature, 209(5020), 308-9, 1966
- Kantchev KN, Tcholakov BN, Casey R, Lehmann H, El Hazmi M, Twelve families with Hb O Arab in the Burgas district of Bulgaria. Observations on sixteen examples of Hb O Arab-beta (0) thalassaemia., Humangenetik, 26(2), 93-7, 1975
- Efremov GD, Sadikario A, Stojancov A, Dojcinov D, Huisman TH, Homozygous hemoglobin O Arab in a gypsy family in Yugoslavia., Hemoglobin, 1(4), 389-94, 1977
Created on 2010-06-16 16:13:17,
Last reviewed on 2021-03-10 17:38:09 (Show full history)
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