Molecular Spectrum of - and -Thalassemia Mutations in a Large Ethnic Hakka Population in Southern China
Molecular Spectrum of - and -Thalassemia Mutations in a Large Ethnic Hakka Population in Southern China
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DOI：
10.1080/03630269.2018.1470094
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发表时间：
2018-01-01
期刊：
影响因子：
1
通讯作者：
Wu, Heming
中科院分区：
文献类型：
--
作者：
Zhao, Pingsen;Weng, Ruiqiang;Wu, Heming
地中海贫血是中国南方最常见的遗传性疾病之一。然而，在我国地中海贫血的高发城市梅州市，关于客家人中β-和β-地中海贫血（β-和塔尔）的分子特征的报道很少。对客家地区11，631例门诊和住院患者进行了DNA检测。共检出突变染色体4280条，占35.98%，其中-地突变体2864条（24.82%），-地突变体1268条（10.09%），-地和-塔尔突变体148条（1.27%）。以下突变-（SEA）/（东南亚缺失），（A）/（A）; /，IVS-II-654（C>T）（HBB：c.316- 197 C>T）/（A）; /，密码子41/42（-TCTT）（HBB：c.126_129 delCTTT）/（A）;和-（3.7）/，（A）/（A）是最常见的地中海贫血基因型。梅州地区客家人群中最常见的地中海贫血基因型为-塔尔。为降低儿童重型地中海贫血的发病率，应根据地中海贫血基因分型分布资料制定预防和控制策略。本研究结果可为临床机构或地方政府降低亚热带地区地中海贫血的患病率提供有价值的参考。
Thalassemia is one of the most prevalent inherited disorders in southern China. However, there have been few reports on molecular characterization of - and -thalassemia (- and -thal) in the large Hakka population living in Meizhou, a city with high incidence of thalassemia in China. A total of 11,631 in- and outpatients in the Hakka area were analyzed by DNA-based - and -thal testing. Of all the samples, 4280 mutant chromosomes were detected, accounting in a total of 35.98%, of which 2864 (24.82%) -thal mutants were detected, 1268 (10.09%) -thal mutants were detected, 148 (1.27%) - and -thal mutants were detected. The following mutations - -(SEA)/ (Southeast Asian deletion), (A)/(A); /, IVS-II-654 (C>T) (HBB: c.316-197C>T)/(A); /, codons 41/42 (-TCTT) (HBB: c.126_129delCTTT)/(A); and -(3.7)/, (A)/(A) were the most common thalassemia genotypes. The most common thalassemia genotype in the Hakka population in Meizhou was -thal. In order to reduce the incidence of severe thalassemia in children, a prevention and control strategy should be established based on the distribution data of thalassemia genotyping. Our findings provide a valuable reference for clinical institutions or local governments to reduce the prevalence of thalassemia in the subtropical regions in the world.