Spectrum of α-thalassemia mutations in Qazvin Province, Iran

α-Thalassemia is a widespread inherited disease particularly prevalent in the middle East Asia population, including Iran. The aim of this study was to define the molecular spectrum and frequency of α-thalassemia mutations in prospective couples of Qazvin province. A total of 120,000 subjects were studied during 10 years (1998-2008). Individuals present with hypochromic and microcytic parameters with normal haemoglobin α-2 (HbA2), without iron deficiency were included in the study. Molecular detection of α-globin mutations were performed by gap-PCR, reverse dot blot hybridization (RDB) and sequencing. Results show that six different kinds of mutations are present in this region. In 22 subjects, most prevalent α-thalassemia mutations were α -3.7 , followed by α -20.5 and α 5nt . Most α-thalassemia couples had consanguineous relationships and Kordish ethnicity. In conclusion, in spite of relatively low incidence of α-thalassemia mutations in Qazvin province, the spectrum and frequency of mutations are different from other parts of Iran. It might be due to migration of several ethnic groups to Qazvin.