海南省地中海贫血基因频率分析

Analysis of gene mutation spectrum of thalassemia patients in Hainan

目的为预防和控制海南省地中海贫血的发病,对本地区地中海贫血的基因类型、发生频率等情况进行分析。方法通过收集从2014年1月至2014年12月在海南省人民医院进行地中海贫血基因诊断的患者血样,使用聚合酶链反应、琼脂糖凝胶电泳和反向斑点杂交对其基因类型进行分析,结果采用Excel 2010和SPSS12.0统计软件进行分析。结果在1 693例样本中,α地中海贫血检出604例,占35.68%,其中东南亚型最常见,其次为静止型,β地中海贫血检出246例,检出率为14.53%,CD41~42、-28、S-II-654为最常见突变,复合型75例,占4.43%。结论地中海贫血在海南高发且以α地中海贫血为主,医疗机构和行政机关应当积极采取大规模筛查和产前诊断等措施,防控重型地贫患儿出生,提高人群素质。

Objective To investigate the genotypes and frequency of thalassemia in Hainan province.Methods Blood samples of patients receiving gene diagnosis for thalassemia in our hospital from Jan. 2014 to Dec.2014 were collected, which were analyzed for the genotypes of thalassemia by Polymerase Chain Reaction, agarose gel electrophoresis and reverse dot blot hybridization. Excel 2010 and SPSS12.0 software were used for statistical analysis.Results In 1 693 samples, 604(35.68%) were found with α thalassemia, with the main genotype of--SEA/αα, followed by-α3.7/αα and-α4.2/αα. Two hundred and forty-six samples(14.53%) were with β thalassemia, with the major types of β41-42/βA, and-28/N. Seventy-five samples(4.43%) were with α thalassemia combined with β thalassemia.Conclusion The thalassemia is prevalent in Hainan province, mainly α thalassemia. Genetic screening and prenatal diagnosis of thalassemia are effective measures for the prevention and control work.