α-Thalassemia Mutations in Two Provinces of Southern Iran: FARS & Kohkeloye and Bouyer Ahmad

Abstract

The major defect in α-thalassemia (α-thal) is a single or double gene deletion. The aim of this study was to evaluate the α-thal mutations in two provinces of Southern Iran, Fars & Kohkeloye and Bouyer Ahmad. A total of 2000 subjects with microcytic hypochromic anemia was selected as a study group; finally, 1177 subjects were found to be α-thal mutation carriers by gap-polymerase chain reaction (gap-PCR) protocols and were confirmed by multiplex PCR and reverse hybridization test strips. A total of 1195 mutated α-globin alleles was identified in these patients that includes at least 10 different gene mutations. The most common mutation found was –α^3.7 (rightward deletion) (71.7%) and α^{−5 nt} (IVS-I, –TGAGG) and the polyadenylation signal site (poly A1; AATAAA>AATAAG) were the second and third most common mutations (7.0 and 4.2%, respectively). In countries like Iran, with a high prevalence of thalassemia, identifying different mutations is helpful in carrier screening, genetic counseling and prenatal diagnosis of at-risk couples for the prevention of the birth of babies affected by severe thalassemic anomalies.

• α-Thalassemia (α-thal)
• Mutation
• Southern Iran