IthaGenes

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Showing all Fusions (Show All):

IthaID	Common Name	Hb Name	HGVS Name	Genes	Functionality	Phenotype	Locus	Position
2555	α12 (HBA2 gene conversion)	N/A	N/A	α1, α2	Causative	α-thalassaemia	NG_000006.1
3433	anti-Hkαα	N/A	N/A	α1, α2	Neutral	N/A	NG_000006.1	0
3432	Hkαα	N/A	N/A	α3.7 hybrid, α1, α2	Neutral	N/A	NG_000006.1	0
301	-α4.2	N/A	NC_000016.10:g.169818_174075del	α2	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	30681
3973	-α3.7;CD 68 AAC>AAA (-α3.7-Hb G-Philadelphia)	Hb G-Philadelphia	NG_000006.1:g.34247_38050del;34099C>A	α3.7 hybrid, α1, α2	Causative	α-chain variant, α-thalassaemia	NG_000006.1	34099
300	-α3.7 (type I) (-α3.7)	N/A	NG_000006.1:g.34247_38050del	α1, α2, α3.7 hybrid	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	34247
2230	-α3.7 (type II)	N/A	NG_000006.1:g.34478_38288del	α3.7 hybrid, α1, α2	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	34478
2231	-α3.7 (type III)	N/A	NG_000006.1:g.34570_38381del	α2, α3.7 hybrid, α1	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	34570
1405	(Hb Anti-Lepore P-Nilotic)	Hb P-Nilotic	NG_000007.3:g.63461_70874dup	β, δ	Causative	δ-chain variant	NG_000007.3
1400		Hb Lepore-Leiden	N/A	δ, β	Causative	δβ-thalassaemia	NG_000007.3
1404	(Hb Anti-Lepore Hong Kong)	Hb Hong Kong	NG_000007.3:g.63160_70572dup	δ, β	Causative	δ-chain variant	NG_000007.3
3390	βδβ hybrid	Hb Palencia	N/A	β, δ	Causative	β-chain variant	NG_000007.3	0
2419	Senegalese δ(0)β(+)	N/A	NG_000007.3:g.(63154_63209)_(70570_70625)del7417	β, δ	Causative	δβ-thalassaemia, Haemolytic anaemia	NG_000007.3	0
2149	N/A (Hb Gγ-β Ulsan)	Hb Ulsan	NG_000007.3:g.42946_70654del	Aγ, Gγ, δ, β, pseudo β	Causative	β-chain variant	NG_000007.3	42946
1498	(HPFH-7, Kenya)	Hb Kenya	NG_000007.3:g.48194_70985del	Aγ, pseudo β, β, δ	Causative	β-chain variant, Hb F levels	NG_000007.3	48194
3792	N/A	Hb Lepore-Hong Kong	NG_000007.3:g.63154_70565del	β, δ	Causative	δβ-thalassaemia, Ineffective erythropoiesis, Haemolytic anaemia	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
1401	(Hb Anti-Lepore Miyada)	Hb Miyada	NG_000007.3:g.63249_70661dup	β, δ	Causative	N/A	NG_000007.3	63249
1396	(δβδ hybrid)	Hb Parchman	NG_000007.3:g.[63249_70661del;63571_70985dup]	β, δ	Causative	δ-chain variant	NG_000007.3	63249
1397		Hb Lepore-Hollandia	NG_000007.3:g.63290_70702del	δ, β	Causative	δβ-thalassaemia	NG_000007.3	63290
1398		Hb Lepore-Baltimore	NG_000007.3:g.63564_70978del	β, δ	Causative	δβ-thalassaemia	NG_000007.3	63564
1399		Hb Lepore-Boston-Washington	NG_000007.3:g.63632_71046del	β, δ	Causative	δβ-thalassaemia	NG_000007.3	63632
1403	(Hb Anti-Lepore P-India)	Hb P-India	NG_000007.3:g.63632_71046dup	δ, β	Causative	δ-chain variant	NG_000007.3	63632
1402	(Hb Anti-Lepore P-Congo)	Hb P-Congo	NG_000007.3:g.64557_71923dup	β, δ	Causative	δ-chain variant	NG_000007.3	64557

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