Identification of seven novel variants in the β-globin gene in transfusion-dependent and normal patients

Abstract

This current study updated the <i>HBB</i> gene variations with newly identified variants of <i>HBB</i> gene and co-inheritance with α-globin deletions. The identified β-globin mutations will strengthen the genetic reference that could aid in characterizing mutations that are associated with phenotype of thalassemia in a specific region.