The Frequency of Beta-Thalassemia Mutations among Carriers in Dezful City Southwest Iran

摘要

Beta- thalassemia (BT) is one of the most common monogenic disorders in the world which inherited by an autosomal recessive manner. There are more than 1.5 million carriers of BT in the world and almost 60000 new carriers are born each year (1). BT is characterized by defect in beta globin chain synthesis and imbalance of alpha/beta globin portion causes sediment of extra chains and pathophysiologic changes in patients (2). BT is more prevalent in Mediterranean countries, Middle East, India, North Africa, central and southwest Asia (3). The Allele frequency and mutation dispersion of BT are specific in each population. It often includes 4–5 common mutations that affect 90% of all cases. There are numerous rare mutations in each population (4). Iran is located on thalassemia belt. In Iran, BT is more prevalent in the border of the Caspian Sea, Persian Gulf, Oman Sea, Khuzestan, Fars, Esfahan and Kerman provinces with a prevalence of 8–10% (1, 4). Distribution of BT mutations is not similar in different regions of Iran and allele frequency is different from north to south and west to east of the country(5, 6).