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首页> 外文期刊>Iranian journal of public health. >The Frequency of Beta-Thalassemia Mutations among Carriers in Dezful City, Southwest Iran
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The Frequency of Beta-Thalassemia Mutations among Carriers in Dezful City, Southwest Iran

机译:伊朗西南德富城市载体中β-地中海贫血突变的频率

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摘要

Beta- thalassemia (BT) is one of the most commonmonogenic disorders in the world whichinherited by an autosomal recessive manner.There are more than 1.5 million carriers of BT inthe world and almost 60000 new carriers are borneach year (1). BT is characterized by defect inbeta globin chain synthesis and imbalance of alpha/betaglobin portion causes sediment of extrachains and pathophysiologic changes in patients(2). BT is more prevalent in Mediterranean countries,Middle East, India, North Africa, centraland southwest Asia (3). The Allele frequency andmutation dispersion of BT are specific in eachpopulation. It often includes 4-5 common mutationsthat affect 90% of all cases. There are numerousrare mutations in each population (4).
机译:β-地中海贫血(BT)是全球最常见的疾病之一,由常染色体隐性方式受到影响。在全球的BT Inthe World和近60000辆新的运营商的一年中有超过150万载体(1)。 BT的特征在于缺陷Ineta球蛋白链合成,α/贝加氏蛋白部分的不平衡导致患者(2)的沉积物和病理物理学变化(2)。 BT在地中海国家,中东,印度,北非,西南亚洲国家(3)中更为普遍。 BT的等位基因频率静音分散在每个尺寸中具有特异性。它通常包括4-5个常见的突变,影响所有病例的90%。每个人口中有无数突变(4)。

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