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Spectrum of -thalassemia mutations in Qazvin Province, Iran

机译：伊朗加兹温省地中海贫血突变谱

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摘要

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 normalhaemoglobin 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 α5nt. 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.
机译：α-地中海贫血是一种广泛遗传的疾病，在包括伊朗在内的中东地区尤其普遍。这项研究的目的是确定加兹温省准夫妇中α-地中海贫血突变的分子谱和频率。在10年中（1998-2008年），总共研究了120,000名受试者。本研究纳入了具有正常血红蛋白α-2（HbA2）且无铁缺乏的低色素和微细胞参数的个体。通过gap-PCR，反向斑点杂交（RDB）和测序对α-珠蛋白突变进行分子检测。结果表明该区域存在六种不同类型的突变。在22名受试者中，最普遍的α-地中海贫血突变为α-3.7，其次是α-20.5α和α5nt。大多数α-地中海贫血夫妇有近亲血缘和Kordish种族。总之，尽管在加兹温省α-地中海贫血突变的发生率相对较低，但突变的频谱和频率与伊朗其他地区不同。这可能是由于几个种族迁徙到加兹温。

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