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Showing all δβ-thalassaemias (Show All):

IthaID	Common Name	Hb Name	HGVS Name	Genes	Functionality	Phenotype	Locus	Position
1400		Hb Lepore-Leiden	N/A	δ, β	Causative	δβ-thalassaemia	NG_000007.3
1525	Belgian (Aγδβ)0	N/A	NC_000011.10:g.(5200077_5215844)_(5249806_5251160)del	Aγ, δ, β, pseudo β	Causative	δβ-thalassaemia	NG_000007.3
3955	Siriraj I Gγ(Aγδβ)0 (~118 kb del)	N/A	N/A	Aγ, δ, β	Causative	δβ-thalassaemia	NG_000007.3
1511	East European (δβ)0	N/A	NG_000007.3:g.61566_70708del	δ, β	Causative	δβ-thalassaemia	NG_000007.3	0
1514	Macedonian/Turkish (δβ)0 (Turkish type 2 (δβ)0 \| Turkish Inv/Del (δβ)0)	N/A	N/A	δ, β	Causative	δβ-thalassaemia	NG_000007.3	0
1515	Turkish (δβ)0 (Turkish type 3 (δβ)0)	N/A	N/A	δ, β, pseudo β	Causative	δβ-thalassaemia	NG_000007.3	0
1516	Leiden 7.4 kb (δβ)0	N/A	NG_000007.3:g.(59658_64667)_(72019_81668)del	δ, β	Causative	δβ-thalassaemia	NG_000007.3	0
1517	Thai 11.3 (δβ)0	N/A	NG_000007.3:g.60045_71313delinsTACATTAAGAGATACCTTAATG	δ, β	Causative	δβ-thalassaemia, Hb F levels	NG_000007.3	0
1518	Japanese 2 (δβ)0	N/A	NG_000007.3:g.52036_78987del	δ, β, pseudo β	Causative	δβ-thalassaemia	NG_000007.3	0
1519	Indian (Aγδβ)0 (inv) (Asian-Indian Inv/Del Gγ(Aγδβ)0)	N/A	N/A	Aγ, δ, β, pseudo β	Causative	δβ-thalassaemia	NG_000007.3	0
1521	Cantonese (Aγδβ)0	N/A	N/A	Aγ, δ, β, pseudo β	Causative	δβ-thalassaemia	NG_000007.3	0
1522	Malaysian-1 (Aγδβ)0	N/A	N/A	Aγ, δ, β, pseudo β	Causative	δβ-thalassaemia	NG_000007.3	0
1528	Yunnanese (Aγδβ)0	N/A	NC_000011.10:g.5182845_5249973del	Aγ, δ, β, pseudo β	Causative	δβ-thalassaemia	NG_000007.3	0
1531	Canadian (Aγδβ)0	N/A	NC_000011.10:g.5196589_5251715delinsTA	Aγ, δ, β, pseudo β	Causative	δβ-thalassaemia	NG_000007.3	0
1532	Leiden 69.5	N/A	NC_000011.10:g.(5167906_5178684)_(5248184_5251232)del	Aγ, δ, β, pseudo β	Causative	δβ-thalassaemia	NG_000007.3	0
1533	49.3 kb Gγ(Aγδβ)0 Asian del	N/A	NC_000011.10:g.5201244_5250542del	Aγ, δ, β, pseudo β	Causative	δβ-thalassaemia	NG_000007.3	0
2419	Senegalese δ(0)β(+)	N/A	NG_000007.3:g.(63154_63209)_(70570_70625)del7417	δ, β	Causative	δβ-thalassaemia, Haemolytic anaemia	NG_000007.3	0
3835	78.9 kb Gγ(Aγδβ)0 del	N/A	NC_000011.10:g.5169895_5248821delins5216274_5216309	Aγ, δ, β, pseudo β, OR52Z1-OR51V1	Causative	δβ-thalassaemia	NG_000007.3	43875
1524	Turkish (Aγδβ)0	N/A	NG_000007.3:g.45410_81665del36256	Aγ, δ, β, pseudo β	Causative	δβ-thalassaemia	NG_000007.3	45410
1504	SE Asian, Thai (Aγδβ)0 (HPFH-6)	N/A	NC_000011.10:g.5172745_5252029	Aγ, δ, β, pseudo β, OR51V1, OR52Z1-OR51V1	Causative	δβ-thalassaemia, Hb F levels	NG_000007.3	45587
1520	German (Aγδβ)0	N/A	NC_000011.10:g.(5197976_ 5198976)_(5251297_5251694)del	Aγ, δ, β, pseudo β	Causative	δβ-thalassaemia	NG_000007.3	45922
1523	Malaysian-2 (Aγδβ)0	N/A	NC_000011.10:g.(5207467_5208467)_(5250061_5250240)del	Aγ, δ, β, pseudo β	Causative	δβ-thalassaemia	NG_000007.3	47376
1530	Italian (Aγδβ)0	N/A	NC_000011.10:g.5194458_5249516del	Aγ, δ, β, pseudo β	Causative	δβ-thalassaemia	NG_000007.3	48100
1527	Chinese (Aγδβ)0	N/A	NC_000011.10:g.5169918_5248821del	Aγ, δ, β, pseudo β	Causative	δβ-thalassaemia	NG_000007.3	48795
1526	Black (Aγδβ)0	N/A	NC_000011.10:g.5212727_5248576del	Aγ, δ, β, pseudo β	Causative	δβ-thalassaemia, Haemolytic anaemia	NG_000007.3	49040
1506	Indian (δβ)0 (32.6 kb GγΑγ(δβ)0 Indian del)	N/A	NC_000011.10:g.5214461_5247124del	δ, β, pseudo β	Causative	δβ-thalassaemia, Haemolytic anaemia	NG_000007.3	50492
1508	Japanese (δβ)0	N/A	NC_000011.10:g.5132468_5246133del	δ, β, pseudo β	Causative	δβ-thalassaemia	NG_000007.3	51483
110	IVS I-5 (G>A) + Corfu deletion (7.2 kb Corfu δβ thalassaemia, Corfu (δβ)0)	N/A	NG_000007.3:g.57237_64443del7207; HBB:c.92+5G>A	δ, β	Causative	δβ-thalassaemia	NG_000007.3	57237, 70691
3971	Tunisian (δβ)0	N/A	NG_000007.3:g.58253_72837del	δ, β	Causative	δβ-thalassaemia	NG_000007.3	58253
1509	Spanish (δβ)0	N/A	NG_000011.10:g.5144331_5237241del	δ, β	Causative	δβ-thalassaemia	NG_000007.3	60375
1510	Black (δβ)0	N/A	NG_000007.3:g.(60530_60730)_(72351_72551)del11822	δ, β	Causative	δβ-thalassaemia	NG_000007.3	60530
3792	N/A	Hb Lepore-Hong Kong	NG_000007.3:g.63154_70565del	δ, β	Causative	δβ-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	63154
3307	N/A	Hb Lepore Rochester-MN	NG_000007.3:g.[63191_70603dup;63291_70703del]	δ, β	Causative	δβ-thalassaemia	NG_000007.3	63191
1397		Hb Lepore-Hollandia	NG_000007.3:g.63290_70702del	δ, β	Causative	δβ-thalassaemia	NG_000007.3	63290
4109	N/A	Hb Lepore-Quanzhou	NG_000007.3:g.63511_70924del	δ, β	Causative	δβ-thalassaemia	NG_000007.3	63511
1398		Hb Lepore-Baltimore	NG_000007.3:g.63564_70978del	δ, β	Causative	δβ-thalassaemia	NG_000007.3	63564
1399		Hb Lepore-Boston-Washington	NG_000007.3:g.63632_71046del	δ, β	Causative	δβ-thalassaemia	NG_000007.3	63632
1507	Sicilian (δβ)0	N/A	NG_000007.3:g.64336_77738del	δ, β	Causative	δβ-thalassaemia, Haemolytic anaemia	NG_000007.3	64336
1512	Laotian (δβ)0 (Thai (δβ)0-thal)	N/A	NG_000007.3:g.(64336_64524)_76866del	δ, β	Causative	δβ-thalassaemia	NG_000007.3	64336
1513	Thai/Vietnamese (δβ)0 (Thai (δβ)0 , Vietnamese (δβ)0 )	N/A	NG_000007.3:g.64384_76993del	δ, β	Causative	δβ-thalassaemia, Haemolytic anaemia	NG_000007.3	64384
3867	>6.5 Kb deletion	N/A	NG_000007.3:g.(63032_64585)_(71150_72080)del	δ, β	Causative	δβ-thalassaemia	NG_000007.3	64585

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