Elucidating the spectrum of α-thalassemia mutations in Iran

Abstract

α thalassemia (α-thal) is one of the most common hemoglobin (Hb) disorders in the world.1 α-globin genes are located on chromosome 16. The majority of α-thal mutations are deletions but point mutations are found as well.2 Since the Iranian population is a mixture of different ethnic groups, frequency and distribution of α-globin mutations in various regions of the country need to be clarified. These findings can contribute to a wider understanding of this disorder.