Molecular analysis of alpha globin gene deletions among patients with microcytic hypochromic anemia in Kermanshah-Iran

Background: The majority of α-thalassemi mutations are deletions of one or both α-globin genes. Since the Iranian populaion is a mixture of different ethnic groups, frequency and distribution of globin mutations in various regions of the country need to be clarified. The aim of this study was to determine the common alpha globin gene deletions among individuals with hypochromic microcytic anemia in Kermanshah province.

Methods: Following the initial evaluation, 92 patients (47 women and 45 men) were found as microcytic hypochromic [MCV < 80 fl and MCH< 27 pg] anemia and selected for this study. All samples were analyzed for detection of four α-gene deletions (-α3.7,-α4.2,-(α) 20.5 and --MED) by GAP-PCR technique. After amplification, 10µl of PCR product was electrophoresed through 1.2% agarose gel and bands were visualized by staining gel in ethidium bromide solution and photographed under a UV transilluminater.

Results: 45 patients had -α3.7 single gene deletion. In patients with -α3.7 deletion, in both homozygous and heterozygous states, MCH was lower than normal ranges. However, the percent of  HbA2 was in normal range. In this study, other common deletional mutations, including - (α)20.5, -α4.2 and --MED were not found.

Conclusion: The results of persent study showed that the frequency of -α3.7 single gene deletion among patients with microcytic hypochromic anemia in Kermanshah province was 48.9%.