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β-Thalassemia (β-thal) is one of the most common diseases in Iran. Here, we report the spectrum of HBB gene mutations in 176 Kurdish β-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 β-globin gene mutations observed in Iran. Samples negative on ARMS-PCR were analyzed by direct sequencing of the β-globin gene. In total, 12 different mutations were identified on the β-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 β-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 β-thal major (β-TM) patients in this province, our results can be helpful in identifying carriers as well as at-risk fetuses through the prenatal diagnosis program. [ABSTRACT FROM AUTHOR]

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 -α3.7 (rightward deletion) (71.7%%) and α−5 nt (IVS-I, -TGAGG) and the polyadenylation signal site (poly A1; AATAA A>AATAA G) 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. [ABSTRACT FROM AUTHOR]