IthaGenes

Loading... Please wait!

Quick filtering

Showing all entries involving gene α1 (Show All):

IthaID	Common Name	Hb Name	HGVS Name	Genes	Functionality	Phenotype
301	-α4.2	N/A	N/A	α2, α1	Causative	α-thalassaemia, Haemolytic anaemia
302	-α2.4	N/A	N/A	α1	Causative	α-thalassaemia, Haemolytic anaemia
307	-α18 (18 kb deletion)	N/A	N/A	α1	Causative	α-thalassaemia, Haemolytic anaemia
316	-(α)5.2	N/A	N/A	α2, α1	Causative	α-thalassaemia, Haemolytic anaemia
322	--CI (28+ kb deletion.)	N/A	N/A	α2, α1	Causative	α-thalassaemia, Haemolytic anaemia
324	--115	N/A	N/A	ζ, α2, α1	Causative	α-thalassaemia, Haemolytic anaemia
326	--YEM	N/A	N/A	α2, α1	Causative	α-thalassaemia, Haemolytic anaemia
329	--KOL	N/A	N/A	ζ, α2, α1	Causative	α-thalassaemia, Haemolytic anaemia
330	--11.1 (11.1 kb deletion)	N/A	N/A	α2, α1	Causative	α-thalassaemia, Haemolytic anaemia
331	--OH	N/A	N/A	ζ, α2, α1	Causative	α-thalassaemia, Haemolytic anaemia
2230	-α3.7 (type II)	N/A	N/A	α2, α1, α3.7 hybrid	Causative	α-thalassaemia, Haemolytic anaemia
2231	-α3.7 (type III)	N/A	N/A	α2, α1, α3.7 hybrid	Causative	α-thalassaemia, Haemolytic anaemia
2235	α-αΔ970 (970 bp deletion)	N/A	N/A	α1	Causative	α-thalassaemia, Haemolytic anaemia
2236	--DUTCH I	N/A	N/A	ζ, α2, α1	Causative	α-thalassaemia, Haemolytic anaemia
2237	--AW	N/A	N/A	α2, α1	Causative	α-thalassaemia, Haemolytic anaemia
2238	--BGS	N/A	N/A	HS40, ζ, α2, α1	Causative	α-thalassaemia, Haemolytic anaemia
2239	--CAMPANIA	N/A	N/A	ζ, α2, α1	Causative	α-thalassaemia, Haemolytic anaemia
2240	--FIL-2 (27.9 deletion)	N/A	N/A	α2, α1	Causative	α-thalassaemia, Haemolytic anaemia
2241	--ED	N/A	N/A	HS40, ζ, α2, α1	Causative	α-thalassaemia, Haemolytic anaemia
2242	--GP	N/A	N/A	HS40, ζ, α2, α1	Causative	α-thalassaemia, Haemolytic anaemia
2252	--BR	N/A	N/A	HS40, ζ, α2, α1	Causative	α-thalassaemia, Haemolytic anaemia
2253	--ZW	N/A	N/A	HS40, ζ, α2, α1	Causative	α-thalassaemia, Haemolytic anaemia
2254	--JY	N/A	N/A	HS40, ζ, α2, α1	Causative	α-thalassaemia, Haemolytic anaemia
2255	--LC	N/A	N/A	HS40, ζ, α2, α1	Causative	α-thalassaemia, Haemolytic anaemia
2256	--VR	N/A	N/A	HS40, ζ, α2, α1	Causative	α-thalassaemia, Haemolytic anaemia
2257	--JT	N/A	N/A	HS40, ζ, α2, α1	Causative	α-thalassaemia, Haemolytic anaemia
2258	--AB	N/A	N/A	HS40, ζ, α2, α1	Causative	α-thalassaemia, Haemolytic anaemia
2259	--GZ	N/A	N/A	HS40, ζ, α2, α1	Causative	α-thalassaemia, Haemolytic anaemia
2260	Dutch II	N/A	N/A	HS40, ζ, α2, α1	Causative	α-thalassaemia, Haemolytic anaemia
2261	--MK	N/A	N/A	HS40, ζ, α2, α1	Causative	α-thalassaemia, Haemolytic anaemia
2262	--80	N/A	N/A	HS40, ζ, α2, α1	Causative	α-thalassaemia, Haemolytic anaemia
2263	α-ZF	N/A	N/A	α2, α1	Causative	α-thalassaemia, Haemolytic anaemia
2264	--Brazil	N/A	N/A	HS40, ζ, α2, α1	Causative	α-thalassaemia, Haemolytic anaemia
2265	--PV	N/A	N/A	HS40, ζ, α2, α1	Causative	α-thalassaemia, Haemolytic anaemia
2266	--HN	N/A	N/A	HS40, ζ, α2, α1	Causative	α-thalassaemia, Haemolytic anaemia
2267	--FT	N/A	N/A	HS40, ζ, α2, α1	Causative	α-thalassaemia, Haemolytic anaemia
2268	--BA	N/A	N/A	HS40, ζ, α2, α1	Causative	α-thalassaemia, Haemolytic anaemia
2269	--TN	N/A	N/A	HS40, ζ, α2, α1	Causative	α-thalassaemia, Haemolytic anaemia
2270	--BO	N/A	N/A	HS40, ζ, α2, α1	Causative	α-thalassaemia, Haemolytic anaemia
2271	--IM	N/A	N/A	HS40, ζ, α2, α1	Causative	α-thalassaemia, Haemolytic anaemia
2272	--LIN	N/A	N/A	HS40, ζ, α2, α1	Causative	α-thalassaemia, Haemolytic anaemia
2273	--GS	N/A	N/A	HS40, ζ, α2, α1	Causative	α-thalassaemia, Haemolytic anaemia
2555	α12 (HBA2 gene conversion)	N/A	N/A	α2, α1	Causative	α-thalassaemia
2561	Triplicated α (anti-3.7)	N/A	N/A	α2, α1	Modifier	α-thalassaemia, Anaemia
2567	BS duplication	N/A	N/A	HS40, ζ, α2, α1	Causative	α-thalassaemia
2568	FD duplication	N/A	N/A	HS40, ζ, α2, α1	Causative	α-thalassaemia
2569	Triplicated α (anti-4.2)	N/A	N/A	α2, α1	Modifier	Anaemia
2570	Sardinian duplication	N/A	N/A	HS40, ζ, α2, α1	Causative	α-thalassaemia
3021	--JAL	N/A	N/A	ζ, α2, α1	Causative	α-thalassaemia
3022	--LOD	N/A	N/A	HS40, ζ, α2, α1	Causative	α-thalassaemia
3067	--MEX1	N/A	N/A	α2, α1	Causative	α-thalassaemia, Haemolytic anaemia
3068	--MEX2	N/A	N/A	HS40, ζ, α2, α1	Causative	α-thalassaemia
3070	αααα282	N/A	N/A	HS40, ζ, α2, α1, NPRL3	Causative	β-thalassaemia
3071	--235	N/A	N/A	HS40, ζ, α2, α1, NPRL3	Causative	α-thalassaemia, Haemolytic anaemia
3076	αααα391	N/A	N/A	HS40, ζ, α2, α1	Causative	β-thalassaemia
3214	44.6 kb deletion	N/A	NC_000016.9:g.194214_238840del	ζ, α2, α1, HBM	Causative	α-thalassaemia, Haemolytic anaemia
3215	--Braz	N/A	N/A	α2, α1	Causative	α-thalassaemia, Haemolytic anaemia
3244	−KOZANI	N/A	N/A	ζ, α2, α1	Causative	α-thalassaemia, Haemolytic anaemia
3255	--MEX3	N/A	NC_000016.10:g.151479_182582del	ζ, α2, α1, HBM	Causative	α-thalassaemia
3258	--NFLD	N/A	NC_000016.10:g.169197_259919delinsCACCCAGCACCCAGTACCA	α2, α1	Causative	α-thalassaemia
3265	α-globin cluster triplication	N/A	N/A	HS40, ζ, α2, α1, HBM	Causative	β-thalassaemia
3273	--VS	N/A	N/A	HS40, ζ, α2, α1, HBM, AXIN1	Causative	α-thalassaemia
3274	--CBR	N/A	N/A	HS40, ζ, α2, α1, HBM	Causative	α-thalassaemia
3283	--JS	N/A	N/A	α2, α1	Causative	α-thalassaemia
3284	--PG	N/A	NG_000006.1:g.93628_542759del450131	HS40, ζ, α2, α1, NPRL3, HBM, AXIN1	Causative	α-thalassaemia, Haemolytic anaemia
3292	15 kb deletion	N/A	N/A	α2, α1, HBM	Causative	α-thalassaemia, Haemolytic anaemia
3294	22 kb deletion	N/A	N/A	α2, α1, HBM	Causative	α-thalassaemia, Haemolytic anaemia
3295	225 kb deletion	N/A	N/A	HS40, ζ, α2, α1, HBM	Causative	α-thalassaemia, Haemolytic anaemia
3296	--GB	N/A	N/A	α2, α1, HBM	Causative	α-thalassaemia, Haemolytic anaemia
3327	--GX	N/A	N/A	HS40, ζ, α2, α1, NPRL3, HBM	Causative	α-thalassaemia
3408	--60.2	N/A	NC_000016.9:g.197577_257872del	ζ, α2, α1, HBM	Causative	α-thalassaemia, Haemolytic anaemia
3432	Hkαα	N/A	N/A	α2, α1, α3.7 hybrid	Neutral	N/A
3433	anti-Hkαα	N/A	N/A	α2, α1	Neutral	N/A
327	--MC	N/A	NG_000006.1:g.164_43364del43201	ζ, α2, α1	Causative	α-thalassaemia, Haemolytic anaemia
323	--CAL	N/A	NG_000006.1:g.8464_40664del32201	ζ, α2, α1	Causative	α-thalassaemia, Haemolytic anaemia
3020	--DANE	N/A	NG_000006.1: g.8800_40007del31208	ζ, α2, α1	Causative	α-thalassaemia
310	--THAI	N/A	NG_000006.1:g.10664_44164del33501	ζ, α2, α1	Causative	α-thalassaemia, Haemolytic anaemia
313	--MED II	N/A	NG_000006.1:g.10864_40864del30001	ζ, α2, α1	Causative	α-thalassaemia, Haemolytic anaemia
311	--FIL	N/A	NG_000006.1:g.11684_43534	ζ, α2, α1	Causative	α-thalassaemia, Haemolytic anaemia
325	--RT	N/A	NG_000006.1:g.12264_49164del36901	ζ, α2, α1	Causative	α-thalassaemia, Haemolytic anaemia
321	--CL	N/A	NG_000006.1:g.13314_124664del111351	ζ, α2, α1	Causative	α-thalassaemia, Haemolytic anaemia
314	-(α)20.5	N/A	NG_000006.1:g.15164_37864del22701	ζ, α2, α1	Causative	α-thalassaemia, Haemolytic anaemia
320	--BRIT	N/A	NG_000006.1:g.16364_45664del29301	α2, α1	Causative	α-thalassaemia, Haemolytic anaemia
319	--MA	N/A	NG_000006.1:g.18964_39864del20901	α2, α1	Causative	α-thalassaemia, Haemolytic anaemia
315	--SA	N/A	NG_000006.1:g.19464_43064del23601	α2, α1	Causative	α-thalassaemia, Haemolytic anaemia
312	--MED I	N/A	NG_000006.1:g.24664_41064del16401	α2, α1	Causative	α-thalassaemia, Haemolytic anaemia
309	--SEA	N/A	NG_000006.1:g.26264_45564del19301	α2, α1	Causative	α-thalassaemia, Haemolytic anaemia
318	--SPAN	N/A	NG_000006.1:g.30864_41414del10551	α2, α1	Causative	α-thalassaemia, Haemolytic anaemia
328	--CANT	N/A	NG_000006.1:g.30864_41414del10551	α2, α1	Causative	α-thalassaemia, Haemolytic anaemia
3018	--NOR	N/A	NG_000006.1:g.31541_44948del13408	α2, α1	Causative	α-thalassaemia
3360	9.7 kb deletion	N/A	NG_000006.1:g.32709_42418del	α2, α1	Causative	α-thalassaemia, Haemolytic anaemia
317	--GEO	N/A	NG_000006.1:g.32864_42264del9401	α2, α1	Causative	α-thalassaemia, Haemolytic anaemia
2499	CD 12 GCC>GAC [Ala>Asp] (Hb J-Aljezur)	Hb J-Paris-I	HBA1:c.38C>A	α1	Causative	α-chain variant
2500	CD 47 GAC>CAC [Asp>His] (Hb L-Ferrara , Hb Michigan-I , Hb Michigan-II , Hb Sealy , Hb Sinai)	Hb Hasharon	HBA1:c.142G>C	α1	Causative	α-chain variant
2501	CD 50 CAC>CAA or CAG [His>Gln]	Hb Frankfurt	HBA1:c.153C>A \| HBA1:c.153C>G	α1	Causative	α-chain variant
300	-α3.7 (type I) (-α3.7)	N/A	NG_000006.1:g.34164_37967del3804	α2, α1, α3.7 hybrid	Causative	α-thalassaemia, Haemolytic anaemia
2416	CD 99 AAG>ATG [Lys>Met]	N/A	HBA1:c.299A>T	α1	Causative	α-chain variant
2991	CD 108 ACC>AAC [Thr>Asn]	Hb Rogliano	HBA1:c.326C>A	α1	Causative	α-chain variant
398	CD 108 -C	N/A	HBA1:c.327delC	α1	Causative	α-thalassaemia, Haemolytic anaemia
2571	CD 109 CTG>CCG [Leu>Pro]	Hb Milano	HBA1:c.329T>C	α1	Causative	α-chain variant, Haemolytic anaemia
303	-α2.7	N/A	NG_000006.1:g.36664_39364del2701	α1	Causative	α-thalassaemia, Haemolytic anaemia
3072	125 bp deletion	N/A	NG_000006.1: g.37040_37164del	α1	Neutral	N/A
304	-α3.5	N/A	NG_000006.1:g.37464_40964del3501	α1	Causative	α-thalassaemia, Haemolytic anaemia
340	CAP +22 T>C	N/A	HBA1:c.-16T>C	α1	Causative	α-thalassaemia, Haemolytic anaemia
2203	CAP +29 (G>C)	N/A	HBA1:c.-9G>C	α1	Causative	α-thalassaemia, Haemolytic anaemia
341	Init CD ATG>GTG	N/A	HBA1:c.1A>G	α1	Causative	α-thalassaemia, Haemolytic anaemia
3147	Init CD ATG>AAG [Met>Lys]	N/A	HBA1:c.2T>A	α1	Causative	α-thalassaemia, Haemolytic anaemia
3250	Init CD ATG>A-G	N/A	HBA1:c.2delT	α1	Causative	α-thalassaemia
429	CD 1 GTG>TTG [Val>Leu]	Hb Baldock	HBA1:c.4G>T	α1	Causative	α-chain variant
2352	CD 2/3 +CTG [+Leu]	Hb Pittsburgh	HBA1:c.9_10insCTG	α1	Causative	α-chain variant
437	CD 3 TCT>TTT [Ser>Phe]	Hb Douala	HBA1:c.11C>T	α1	Causative	α-chain variant
442	CD 6 GAC>TAC [Asp>Tyr]	Hb Woodville	HBA1:c.19G>T	α1	Causative	α-chain variant
444	CD 6 GAC>CAC [Asp>His]	Hb Galliera I	HBA1:c.19G>C	α1	Causative	α-chain variant
2987	CD 9 AAC>GAC [Asn>Asp]	Hb Farnborough	HBA1:c.28A>G	α1	Causative	α-chain variant
453	CD 9 AAC>AGC [Asn>Ser]	Hb Anadour	HBA1:c.29A>G	α1	Causative	α-chain variant
456	CD 9 AAC>AAG [Asn>Lys]	Hb Delfzicht	HBA1:c.30C>G	α1	Causative	α-chain variant
2386	CD 13 GCC>ACC [Ala>Thr]	Hb Olivet	HBA1:c.40G>A	α1	Causative	α-chain variant
347	CD 14 TGG>CGG [Trp>Arg]	Hb Evanston	HBA1:c.43T>C	α1	Causative	α-thalassaemia, α-chain variant, Haemolytic anaemia
349	CD 14 TGG>TAG	N/A	HBA1:c.44A>G	α1	Causative	α-thalassaemia, Haemolytic anaemia
2380	CD 14 TGG>TTG [Trp>Leu]	Hb Basel	HBA1:c.44G>T	α1	Causative	α-chain variant
2365	CD 15 GGT>TGT [Gly>Cys]	Hb St. Rose	HBA1:c.46G>T	α1	Causative	α-chain variant
466	cd 15 GGT>GAT [Gly>Asp] (Hb J-Oxford , Hb N-Cosenza)	Hb I-Interlaken	HBA1:c.47G>A	α1	Causative	α-chain variant
2509	CD 16 AAG>GAG [Lys>Glu] (Hb I-Burlington , Hb I-Philadelphia , Hb I-Skamania , Hb I-Texas)	HbI	HBA1:c.49A>G	α1	Causative	α-chain variant
3395	CD 16 AAG>TAG [Lys>STOP]	N/A	HBA1:c.49A>T	α1	Causative	α-thalassaemia
471	CD 18 GGC>CGC [Gly>Arg]	Hb Handsworth	HBA1:c.55G>C	α1	Causative	α-chain variant
2353	CD 18 GGC>TGC [Gly>Cys]	Hb Lima	HBA1:c.55G>T	α1	Causative	α-chain variant
3000	CD 18 GGC>AGC [ Gly>Ser]	Hb King Ecgbert	HBA1:c.55G>A	α1	Causative	α-chain variant
2205	CD 20 +T	N/A	HBA1:c.62_63insT	α1	Causative	α-thalassaemia, α-chain variant, Haemolytic anaemia
2285	CD 20 CAC>CCC	Hb Fulton-Georgia	HBA1:c.62A>C	α1	Causative	α-chain variant
2317	CD 20 CAC>CAA [His>Gln] (Hb Le Lamentin)	Hb Brugg	HBA1:c.63C>A	α1	Causative	α-chain variant
3266	CD 22 GGC>GGT [Gly>Gly]	N/A	HBA1:c.69C>T	α1	Causative	α-thalassaemia, Haemolytic anaemia
3267	CD 23 GAG>TAG	N/A	HBA1:c.70G>T	α1	Causative	α-thalassaemia, Haemolytic anaemia
491	CD 24 TAT>TGT [Tyr>Cys]	Hb Ramona	HBA1:c.74A>G	α1	Causative	α-chain variant
2510	CD 27 GAG>GAC [Glu>Asp]	Hb Hekinan	HBA1:c.84G>C	α1	Causative	α-chain variant
2983	CD 27 GAG>GAT [Glu>Asp]	Hb Hekinan II	HBA1:c.84G>T	α1	Causative	α-chain variant
2995	CD 28 GCC>ACC [Ala>Thr]	Hb Bramall Lane	HBA1:c.85G>A	α1	Causative	α-chain variant
3032	CD 28 GCC>TCC [Ala>Ser]	N/A	HBA1:c.85G>T	α1	Causative	α-thalassaemia
2313	CD 28 GCC>GTC [Ala>Val]	Hb Nedlands	HBA1:c.86C>T	α1	Causative	α-chain variant
2310	CD 29 CTG>GTG [Leu>Val]	Hb Kosovo	HBA1:c.88C>G	α1	Causative	α-chain variant
3030	CD 30 GAG>TAG	N/A	HBA1:c.91G>T	α1	Causative	α-thalassaemia
504	CD 30 GAG>GCG [Glu>Ala]	Hb Bom Jesus da Lapa	HBA1:c.92A>C	α1	Causative	α-chain variant
505	CD 30 GAG>GTG [Glu>Val]	Hb Itapira	HBA1:c.92A>T	α1	Causative	α-chain variant
365	CD 31 AGG>--G	N/A	HBA1:c.92_93delAG	α1	Causative	α-thalassaemia, Haemolytic anaemia
2402	CD 31 AGG>ACG [Arg>Thr]	Hb Mao	HBA1:c.95G>C	α1	Causative	α-chain variant
358	IVS I-1 AGGT>AGAT donor	N/A	HBA1:c.95+1G>A	α1	Causative	α-thalassaemia, Haemolytic anaemia
3049	IVS I-1 AGGT>AGCT donor	N/A	HBA1:c.95+1G>C	α1	Causative	α-thalassaemia
2204	IVS I-4 A>G	N/A	HBA1:c.95+4A>G	α1	Causative	α-thalassaemia, Haemolytic anaemia
361	IVS I-5 G>A	N/A	HBA1:c.95+5 G>A	α1	Causative	α-thalassaemia, Haemolytic anaemia
3431	IVS I-38 C>T	N/A	HBA1:c.95+38C>T	α1	Causative	α-thalassaemia
2212	IVS I-45 G>C	N/A	HBA1:c.95+45G>C	α1	Causative	α-thalassaemia, Haemolytic anaemia
2451	IVS I-116 A>G	N/A	HBA1:c.96-2A>G	α1	Causative	α-thalassaemia
364	IVS I-117 GCAGGA>GCAAGA acceptor	N/A	HBA1:c.96-1G>A	α1	Causative	α-thalassaemia, Haemolytic anaemia
3251	IVS I-117 GCAGGA>GCACGA acceptor	N/A	HBA1:c.96-1G>C	α1	Causative	α-thalassaemia
2381	CD 32 ATG>AAG [Met>Lys] (Hb Chao Pra Ya)	Hb Queens Park	HBA1:c.98T>A	α1	Causative	α-chain variant
2986	CD 32 ATG>ACG [Met>Thr]	Hb Bridlington	HBA1:c.98T>C	α1	Causative	α-thalassaemia, α-chain variant, Haemolytic anaemia
3252	CD 32 ATG>ATA [Met>Ile]	Hb Amsterdam-A1	HBA1:c.99G>A	α1	Causative	α-thalassaemia, α-chain variant
2968	CD 36 TTC>TAC [ Phe>Tyr]	Hb Kempten	HBA1:c.110T>A	α1	Causative	α-chain variant
370	CD 37 -CCC [-Pro)	Hb Heraklion	HBA1:c.112_114delCCC	α1	Causative	α-thalassaemia, α-chain variant, Haemolytic anaemia
371	CD 38/39 -ACC [-Thr]	Hb Taybe	HBA1:c.118_120delACC	α1	Causative	α-thalassaemia, α-chain variant, Haemolytic anaemia
522	CD 40 AAG>ACG [Lys>Thr]	Hb Pisa	HBA1:c.122A>C	α1	Causative	α-chain variant
523	CD 40 AAG>AAC [Lys>Asn]	Hb Saratoga Springs	HBA1:c.123G>C	α1	Causative	α-chain variant
2385	CD 42 TAC>TCC [Tyr>Ser]	Hb Erzeroum	HBA1:c.128A>C	α1	Causative	α-chain variant
530	CD 44 CCG>GCG [Pro>Ala] (Hb Milne)	Hb Hagerstown	HBA1:c.133C>G	α1	Causative	α-chain variant
3264	CD 44 CCG>TCG [Pro>Ser]	Hb Wiangpapao	HBA1:c.133C>T	α1	Causative	α-chain variant
2468	CD 44 +C	N/A	HBA1:c.134_135insC	α1	Causative	α-thalassaemia
3040	CD 48 CTG>CGG [Leu>Arg]	Hb Montgomery	HBA1:c.146T>G	α1	Causative	α-chain variant
3026	CD 49 AGC>CGC [Ser>Arg]	Hb Puerta del Sol	HBA1:c.148A>C	α1	Causative	α-chain variant
2993	CD 49 AGC>AAC [Ser>Asn]	Hb Furuset	HBA1:c.149G>A	α1	Causative	α-chain variant
2529	CD 50 +GGAGCC	Hb Bakersfield	HBA1:c.151_152insGGAGCC	α1	Causative	α-chain variant
553	CD 51 GGC>AGC [Gly>Ser]	Hb Riccarton	HBA1:c.154G>A	α1	Causative	α-chain variant
2502	CD 51 GGC>CGC [Gly>Arg]	Hb Russ	HBA1:c.154G>C	α1	Causative	α-chain variant
375	CD 51-55 (-13 bp deletion)	N/A	HBA1:c.155_167delGCTCTGCCCAGGT	α1	Causative	α-thalassaemia, Haemolytic anaemia
556	CD 51-58 or 52-59 (-24bp)	Hb J-Biskra	HBA1:c.157_180del	α1	Causative	α-chain variant
561	CD 55 GTT>CTT [Val>Leu] (Hb Poland)	Hb Roubaix	HBA1:c.166G>C	α1	Causative	α-chain variant
562	CD 55 GTT>GCT [Val>Ala] (Hb Gerland 1)	Hb Gerland	HBA1:c.167T>C	α1	Causative	α-chain variant
3075	CD 56/57 (+24bp) (HBA1:p.Lys57_Gly58insSerHisGlySerAlaGlnValLys , Hb KSVGH)	Hb Kaohsiung Veterans General Hospital	HBA1:c.171_172insAGCCACGGCTCTGCCCAAGTTAGG	α1	Causative	α-chain variant
3175	CD 58 CAC>CTC [His>Leu]	Hb Kirklareli	HBA1:c.176A>T	α1	Causative	α-chain variant, Haemolytic anaemia
573	CD 59 GGC>AGC [Gly>Ser]	Hb Parma	HBA1:c.178G>A	α1	Causative	α-chain variant
3280	CD 59 GGC>CGC [Gly>Arg]	Hb Zurich-Albisrieden	HBA1:c.178G>C	α1	Causative	α-thalassaemia, α-chain variant, Haemolytic anaemia
378	CD 59 GGC>GAC [Gly>Asp]	Hb Adana	HBA1:c.179G>A	α1	Causative	α-thalassaemia, α-chain variant, Haemolytic anaemia
380	CD 60/61 -AAG [-Lys]	Hb Clinic	HBA1:c.184_186delAAG	α1	Causative	α-thalassaemia, α-chain variant, Haemolytic anaemia
3334	CD 61 AAG>TAG [Lys>STOP]	N/A	HBA1:c.184A>T	α1	Causative	α-thalassaemia
2982	CD 61 AAG>AGG [Lys>Arg]	Hb Derby	HBA1:c.185A>G	α1	Causative	α-chain variant
381	CD 62 -GTG [-Val]	Hb Aghia Sophia	HBA1:c.187_189delGTG	α1	Causative	α-thalassaemia, α-chain variant, Haemolytic anaemia
382	CD 62 GTG>-TG	Hb Champaign	HBA1:c.187delG	α1	Causative	α-thalassaemia, α-chain variant, Haemolytic anaemia
2429	CD 62 GTG>GCG [Val>Ala]	N/A	HBA1:c.188T>C	α1	Causative	α-thalassaemia
2347	CD 62 -G	N/A	HBA1:c.189delG	α1	Causative	α-thalassaemia, Haemolytic anaemia
3015	CD 63 GCC>ACC [Ala>Thr]	Hb Greenville-NC	HBA1:c.190G>A	α1	Causative	α-chain variant
383	CD 64-74 (-33 bp)	N/A	HBA1:c.193_225del33	α1	Causative	α-thalassaemia, α-chain variant, Haemolytic anaemia
587	CD 64 GAC>CAC [Asp>His]	Hb Q-India	HBA1:c.193G>C	α1	Causative	α-chain variant
2528	CD 64 GAC>AAC [Asp>Asn]	Hb Wädenswil	HBA1:c.193G>A	α1	Causative	α-chain variant
2547	CD 64 GAC>AAC [Asp>Asn]	Hb Burgos	HBA1:c.193G>A	α1	Causative	α-chain variant
2455	CD 64 GAC>GCC [Asp>Ala]	Hb Lucan	HBA1:c.194A>C	α1	Causative	α-chain variant
594	CD 68 AAC>CAC [Asn>His]	Hb Jeddah	HBA1:c.205A>C	α1	Causative	α-chain variant
597	CD 68 +GCGCTGACCAAC [+Ala-Leu-Thr-Asn]	Hb Esch	HBA1:c.207_208insGCGCTGACCAAC	α1	Causative	α-chain variant
599	CD 70 GTG>ATG [Val>Met]	Hb Haaksbergen	HBA1:c.211G>A	α1	Causative	α-chain variant, Haemolytic anaemia
385	CD 74/75 -GAC [- Asp]	N/A	HBA1:c.212_214delGAC	α1	Causative	α-thalassaemia, Haemolytic anaemia
2358	CD 71 GCG>GTG [Ala>Val]	Hb Allison Park	HBA1:c.215C>T	α1	Causative	α-chain variant
3312	CD 72 CAC>CAG [His>Gln]	Hb Madonie	HBA1:c.219C>G	α1	Causative	α-chain variant
2996	CD 73 GTG>ATG [Val>Met]	Hb Argenteuil	HBA1:c.220G>A	α1	Causative	α-chain variant
3326	CD 73 GTG>G-G	N/A	HBA1:c.221delT	α1	Causative	α-thalassaemia
607	CD 74 GAC>CAC [Asp>His] (Hb Asabara , Hb G-Taichung , Hb Kurashiki-I , Hb Mahidol)	Hb Q-Thailand	HBA1:c.223G>C	α1	Causative	α-chain variant
608	CD 74 GAC>GTC [Asp>Val]	Hb Les Lilas	HBA1:c.224A>T	α1	Causative	α-chain variant
609	CD 74 GAC>GGC [Asp>Gly]	Hb Chapel Hill	HBA1:c.224A>G	α1	Causative	α-chain variant, Haemolytic anaemia
2503	CD 75 GAC>TAC [Asp>Tyr]	Hb Winnipeg	HBA1:c.226G>T	α1	Causative	α-chain variant
2485	CD 77 CCC>TCC [Pro>Ser]	Hb Nile	HBA1:c.232C>T	α1	Causative	α-chain variant
2504	CD 77 CCC>CAC [Pro>His]	Hb Toulon	HBA2:c.233C>A	α1	Causative	α-chain variant
625	CD 78 AAC>CAC [Asn>His]	Hb Davenport	HBA1:c.235A>C	α1	Causative	α-chain variant
386	CD 78 -C	N/A	HBA1:c.237delC	α1	Causative	α-thalassaemia, Haemolytic anaemia
2505	CD 78 AAC>AAG [Asn>Lys]	Hb Stanleyville-II	HBA1:c.237C>G	α1	Causative	α-chain variant
633	CD 82 GCC>ACC (Ala>Thr)	Hb Hagley Park	HBA1:c.247G>A	α1	Causative	α-chain variant, Haemolytic anaemia
641	CD 85 GAC>CAC [Asp>His]	Hb Canuts	HBA1:c.256G>C	α1	Causative	α-chain variant
2336	CD 86 CTG>GTG [Leu>Val]	N/A	HBA1:c.259C>G	α1	Causative	α-chain variant
647	CD 87 CAC>GAC [His>Asp]	Hb Bonn	HBA1:c.262C>G	α1	Causative	α-chain variant
2506	CD 87 CAC>TAC [His>Tyr] (Hb M-Kankakee , Hb M-Oldenburg , Hb M-Sendai)	Hb M-Iwate	HBA1:c.262C>T	α1	Causative	α-chain variant
658	CD 89 CAC>CAG [His>Gln]	Hb Buffalo	HBA1:c.270C>G	α1	Causative	α-chain variant
662	CD 90 AAG>AGG [Lys>Arg]	Hb Clinico Madrid II	HBA1:c.272A>G	α1	Causative	α-chain variant
663	CD 90 AAG>ACG	Hb J-Rajappen	HBA1:c.272A>C	α1	Causative	α-chain variant
665	CD 91 CTT>TTT [Leu>Phe] (Hb Grey Lynn)	Hb Vientiane	HBA1:c.274C>T	α1	Causative	α-chain variant
390	CD 93-99 (+21 bp)	N/A	HBA1:c.280_300ins21	α1	Causative	α-thalassaemia, Haemolytic anaemia
672	CD 93 GTG>GCG [Val>Ala]	Hb Die	HBA1:c.281T>C	α1	Causative	α-chain variant, Haemolytic anaemia
2507	CD 94 GAC>AAC [Asp>Asn]	Hb Titusville	HBA1:c.283G>A	α1	Causative	α-chain variant
2539	CD 94 (+21 bp duplication)	Hb SKMC	HBA1:c.283_300+3dup	α1	Causative	α-thalassaemia, α-chain variant, Haemolytic anaemia
678	CD 94 GAC>GGC [Asp>Gly]	Hb Çapa	HBA1:c.284A>G	α1	Causative	α-chain variant
684	CD 95 CCG>CGG [Pro>Arg]	Hb St. Luke's	HBA1:c.287C>G	α1	Causative	α-chain variant
685	CD 95 CCG>CAG [Pro>Gln]	Hb Wichita	HBA1:c.287C>A	α1	Causative	α-chain variant
2357	CD 96 GTC>CTC [Val>Leu]	Hb Woodstock	HBA1:c.289G>C	α1	Causative	α-chain variant
2467	CD 99 AAG>TAG	N/A	HBA1:c.298A>T	α1	Causative	α-thalassaemia
691	CD 99 AAG>AAT [Lys>Asn] (Hb Harlow)	Hb Beziers	HBA1:c.300G>T	α1	Causative	α-chain variant
3031	IVS II-1 G>A	N/A	HBA1:c.300+1G>A	α1	Causative	α-thalassaemia
3148	IVS II-3 +21nt	N/A	HBA1:c.302_303insGACCCGGTCAACTTCAAGGTG	α1	Causative	α-chain variant, Haemolytic anaemia
2222	IVS II-147 C>G	N/A	HBA1:c.301-3C>G	α1	Causative	α-thalassaemia, Haemolytic anaemia
393	IVS II-148 A>G consensus	N/A	HBA1:c.301-2A>G	α1	Causative	α-thalassaemia, Haemolytic anaemia
2303	CD 100 CTC>TTC (Leu>Phe)	Hb Weesp	HBA1:c.301C>T	α1	Causative	α-chain variant
2305	CD 100 CTC>CCC [Leu>Pro]	Hb Corsica	HBA1:c.302T>C	α1	Causative	α-chain variant
2985	CD 102 AGC>CGC [Ser>Arg]	Hb Manitoba IV	HBA1:c.307A>C	α1	Causative	α-chain variant
693	CD 102 AGC>AGA [Ser>Arg]	Hb Manitoba II	HBA1:c.309C>A	α1	Causative	α-chain variant
695	CD 103 CAC>TAC [His>Tyr]	Hb Charolles	HBA1:c.310C>T	α1	Causative	α-chain variant
2532	CD 103 CAC>GAC [His>Asp]	Hb Illinois	HBA1:c.310C>G	α1	Causative	α-chain variant
395	CD 104 TGC>AGC [Cys>Ser]	Hb Oegstgeest	HBA1:c.313T>A	α1	Causative	α-thalassaemia, α-chain variant, Haemolytic anaemia
2340	CD 104 TGC>TGG [Cys>Trp]	Hb Donnington	HBA1:c.315C>G	α1	Causative	α-thalassaemia, α-chain variant, Haemolytic anaemia
701	CD 106 CTG>CCG [Leu>Pro]	Hb Charlieu	HBA1:c.320T>C	α1	Causative	α-chain variant
2224	CD 110-114 (-13 bp)	N/A	HBA1:c.333_345delCGCCCACCTCCCC	α1	Causative	α-thalassaemia, Haemolytic anaemia
2377	CD 112 CAC>CAA [His>Gln]	Hb West Allis	HBA1:c.339C>A	α1	Causative	α-chain variant
3378	CD 114 CCC>CAC [Pro>His]	Hb Hubei	HBA1:c.344C>A	α1	Causative	α-chain variant
2322	CD 115 GCC>GTC [Ala>Val]	Hb Palmela	HBA1:c.347C>T	α1	Causative	α-chain variant
720	CD 116 GAG>AAG [Glu>Lys] (Hb Buginese-X , Hb Oliviere)	Hb O-Indonesia	HBA1:c.349G>A	α1	Causative	α-chain variant
724	CD 117/118 +ATC [+Ile]	Hb Phnom Penh	HBA1:c.354_355insATC	α1	Causative	α-thalassaemia, α-chain variant, Haemolytic anaemia
3036	CD 117/118 +TCA [+Ser]	Hb Wexham	HBA1:c.354_355insTCA	α1	Causative	α-chain variant
406	CD 119 CCT>TCT [Pro>Ser] (Hb Bemalda P, Hb Bernalda)	Hb Groene Hart	HBA1:c.358C>T	α1	Causative	α-thalassaemia, α-chain variant, Haemolytic anaemia
726	CD 119 CCT>CTT [Pro>Leu]	Hb Diamant	HBA1:c.359C>T	α1	Causative	α-chain variant
2508	CD 120 GCG>GAG [Ala>Glu] (Hb J-Birmingham)	Hb J-Meerut	HBA1:c.362C>A	α1	Causative	α-chain variant
729	CD 122 CAC>TAC [His>Tyr]	Hb Yanase	HBA1:c.367C>T	α1	Causative	α-chain variant
407	CD 123 GCC >CCC [Ala>Pro]	Hb Voreppe	HBA1:c.370G>C	α1	Causative	α-thalassaemia, α-chain variant, Haemolytic anaemia
733	CD 123 GCC>TCC [Ala>Ser]	Hb Mulhacen	HBA1:c.370G>T	α1	Causative	α-chain variant
3016	CD 123 GCC>GTC [Ala>Val]	Hb Louisa	HBA1:c.371C>T	α1	Causative	α-chain variant
2984	CD124 TCC>TGC [Ser>Cys]	Hb Harehills	HBA1:c.374C>G	α1	Causative	α-chain variant
2414	CD 125 CTG>CCG [Leu>Pro]	Hb Quong Sze II	HBA1:c.377T>C	α1	Causative	α-chain variant
738	CD 126 GAC>CAC [Asp>His]	Hb Sassari	HBA1:c.379G>C	α1	Causative	α-chain variant
2408	CD 126 GAC>GCC [Asp>Ala]	Hb Verdun	HBA1:c.380A>C	α1	Causative	α-chain variant
743	CD 126 GAC>GAG [Asp>Glu]	Hb Burlington	HBA1:c.381C>G	α1	Causative	α-chain variant
3380	CD 127 AAG>GAG [Lys>Glu]	Hb Shantou	HBA1:c.382A>G	α1	Causative	α-chain variant
411	CD 129 CTG>CCG [Leu>Pro]	Hb Tunis-Bizerte	HBA1:c.391T>C	α1	Causative	α-thalassaemia, α-chain variant, Haemolytic anaemia
749	CD 130 GCT>GTT [Ala>Val]	Hb Westborough	HBA1:c.392C>T	α1	Causative	α-chain variant, Haemolytic anaemia
3281	CD 130 (+T)	Hb Sichuan	HBA1:c.393_394insT	α1	Causative	α-thalassaemia, α-chain variant, Haemolytic anaemia
752	CD 131 TCT>TTT	Hb Lusaka	HBA1:c.395C>T	α1	Causative	α-chain variant
416	CD 131 (+T) >175aa	Hb Pak Num Po	HBA1:c.396_397insT	α1	Causative	α-thalassaemia, α-chain variant, Haemolytic anaemia
753	CD 131 TCT>TC-	Hb Fez	HBA1:c.396delT	α1	Causative	α-chain variant
2323	CD 132 GTG>ATG [Val>Met]	Hb Portimão	HBA1:c.397G>A	α1	Causative	α-chain variant
760	CD 134 -C	Hb Senlis	HBA1:c.404delC	α1	Causative	α-chain variant, Haemolytic anaemia
762	CD 135 GTG>CTG [Val>Met]	Hb Trenton	HBA1:c.406G>A	α1	Causative	α-chain variant
767	CD 137 ACC>CCC [Thr>Pro]	Hb Verona	HBA1:c.412A>C	α1	Causative	α-chain variant
769	CD 138 TCC>TGC [Ser>Cys]	Hb Ecuador	HBA1:c.416C>G	α1	Causative	α-chain variant
771	CD 139 AAA>GAA [Ala>Glu]	Hb Hanamaki-1	HBA1:c.418A>G	α1	Causative	α-chain variant
3302	+778 C>A	N/A	HBA1:c.*46C>A	α1	Neutral	N/A
2225	Poly A (G>A) AATAAAG>AATAAAA	N/A	HBA1:c.*96G>A	α1	Causative	α-thalassaemia, Haemolytic anaemia

Disclaimer: The information on this website is provided as an information resource only and must not to be used as a substitute for professional diagnosis and treatment. The ITHANET Portal and IthaGenes are not responsible or liable for any advice, course of treatment, diagnosis or any other information, services or products that an individual obtains through this website.