HBA2, hemoglobin subunit alpha 2, 3040

N. diseases: 182; N. variants: 34
Disease: Alpha trait thalassemia ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs41341344
rs41341344
Entrez Id: 3040
Gene Symbol: HBA2
HBA2
CUI: C0472762
Disease:
Alpha trait thalassemia 		0.010 GeneticVariation BEFREE Although this mutation would be expected to produce an unstable haemoglobin and hence a haemolytic anaemia, simple heterozygotes for the alpha 29Leu-->Pro mutation have the phenotype of alpha-thalassaemia trait. 8136277 1993