Distribution of HBB Gene Mutations in the Kurdish Population of Ilam Province, West Iran

beta-Thalassemia (beta-thal) is one of the most common diseases in Iran. Here, we report the spectrum ofHBBgene mutations in 176 Kurdish beta-thal carriers from the northern part of Ilam Province, Iran. The amplification refractory mutation system-polymerase chain reaction (ARMS-PCR) technique was used to identify common beta-globin gene mutations observed in Iran. Samples negative on ARMS-PCR were analyzed by direct sequencing of the beta-globin gene. In total, 12 different mutations were identified on the beta-globin gene. The mutations of IVS-II-1 (G>A) (HBB: c.315+1G>A), codons 8/9 (+G) (HBB: c.27_28insG), codons 36/37 (-T) (HBB: c.112delT) and IVS-I-110 (G>A) (HBB: c.93-21G>A), were the most prevalent mutations in our samples, with frequencies of 59.09, 10.80, 7.95 and 7.39%, respectively. In general, the mutation spectrum of the beta-globin gene in the northern part of Ilam Province is most similar to that in other western provinces of Iran. On the other hand, due to the high prevalence of carriers and beta-thal major (beta-TM) patients in this province, our results can be helpful in identifying carriers as well as at-risk fetuses through the prenatal diagnosis program.