广东省梅州地区地中海贫血的分子流行病学调查

目的调查广东省梅州地区人群中α和β地中海贫血（简称地贫）的发生率、基因缺陷类型及频率。方法收集梅州各地区客家人群外周血标本13798例,进行地贫初筛;地贫初筛阳性者的外周血样本1897例进行地贫基因分析,以及基因型频率分布的调查。结果在13798份外周血标本中,筛查出地贫阳性者1897例,阳性检出率为13.75%。经基因分析和鉴别诊断,确诊地贫1848例,缺铁性贫血36例,正常13例,地贫的发生率为13.39%。检出缺失型α地贫1364例,人群发生率为9.89%,发现8种基因型;检出突变型β地贫484例,其中6例为β地贫合并α地贫,人群β地贫发生率为3.51%,发现14种基因型;检出的β地贫等位基因有469个,人群基因携带率为3.40%。结论梅州地区人群中α和β地贫的发生率和基因携带率较高,应适时进行人群筛查,为该地区遗传咨询和制定产前诊断策略提供依据。

The molecular epidemiology of thalassemia in Meizhou,Guangdong

Objective To investigate the α and β-thalassemia genes carrier rates,gene mutation types and frequency distributions in Guangdong Meizhou regions.Methods 13 798 Hakkanese peripheral blood samples in Meizhou regions were collected for thalassemia screening and 1 897 positive cases were performed to analyze the genotypes and frequency distribution.Results In 13 798 peripheral blood sample screening,1 897 cases were thalassemia positive,with a positive rate of 13.75%.From genetic screening,1 848 cases were confirmed as thalassemia,with a positive rate of 13.39%,in which 36 cases were iron-deficiency anaemia,13 cases normal.1 364 cases of deletion thalassemia,with an incidence of 9.89%,showing 8 different genetypes.484 cases of thalssemia,in which 6 cases were both and thalassemia,with an incidence for thalassemia of 3.51%,showing 14 different genotypes.469 thalssemia alleles were detected,with an incidence of 3.40%.Conclusion Gene carrying rate,mutation types and distribution characteristics of the α and β-thalassemia in the population of Meizhou were clarified.This study will provide guidance for genetic consultation and prenatal diagnosis in this region.