HBA1, hemoglobin subunit alpha 1, 3039

N. diseases: 200; N. variants: 25
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2873756
Disease: Severe beta thalassemia
Severe beta thalassemia
0.020 AlteredExpression disease BEFREE Here we review the evidence that reduction of α-globin expression may provide an equally plausible approach to ameliorating clinically severe forms of β-thalassemia, and in particular, the very common subgroup of patients with hemoglobin E β-thalassemia that makes up approximately half of all patients born each year with severe β-thalassemia. 25869286 2015
CUI: C2873756
Disease: Severe beta thalassemia
Severe beta thalassemia
0.020 AlteredExpression disease BEFREE These data indicate that a significant therapeutic benefit could be achieved with expression of a transferred globin gene at about 15% of the level of total alpha-globin mRNA in patients with severe beta-thalassemia in whom 20% of erythroid precursors express the vector genome. 11342459 2001