Alpha globin gene alterations modifying the phenotype of homozygous beta thalassaemia

Abstract excerpt

Abstract The phenotype of β‐thalassemia varies widely. The primary determinant is the type of beta‐globin gene mutation; however, there are secondary and tertiary modifiers also as associated alpha mutations, polymorphisms, as well as coinheritance of mutations affecting other related systems. Co‐inheritance of alpha thalassemia mutations is known to ameliorate the severity of HbE‐β thalassemia. However, the role...

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