Molecular basis of alpha-thalassemia in Iran

ABSTRACT

Alpha-thalassemia [alpha-thal] is probably the most prevalent monogenic condition in the world. Deletions are the most common types of mutations in alpha-thal, followed by point mutations and small insertion/deletion. In the context of national screening program for prevention of thalassemia and hemoglobinopathies in Iran, alpha-thal carriers have come to more attention. Therefore, the frequency and distribution of alpha-globin mutations in various regions of the country have been studied in recent years. A comprehensive search was performed in PubMed, Scopus, and national databases for finding reports on mutation detection in alpha-thal carriers and HbH disease with Iranian origin. The mutation data of 10849 alpha-thal carriers showed that -alpha[3.7] and alpha[-5NT] were the most common deletional and nondeletional mutations, respectively. In HbH disease cases, the -alpha[3.7]/-[-MED] was the most prevalent genotype. Overall, 42 different mutations have been identified in alpha-globin cluster reflecting the high heterogeneity of the mutations in Iranian populations