【摘要】 目的探讨广东省育龄人群孕前筛查中α和β地中海贫血的发生率,基因型及基因频率,并分珠三角地区,粤东地区、粤西地区、粤北四个地区比较地中海贫血在其发生率及不同基因型的区别,进一步说明孕前地中海贫血筛查在我省出生缺陷干预应用中的意义。方法 2016年1月至2019年12月进行孕前优生健康检查的人群数据,统计地中海贫血筛查阳性(MCV≤82)并且做了地中海贫血基因检测的人群。结果 210 887例育龄夫妇中共检测出地中海贫血15 943例,地中海贫血检出率为7.56%。其中α地中海贫血10 051例,占地中海贫血携带的63.04%,β地中海贫血5 098例,占地中海贫血携带的31.98%,α合并β地中海贫血795例,占地中海贫血携带的4.99%。其中珠三角地中海贫血发生率7.09%(α:64.84%,β:30.23%,α合并β:4.93%),粤东地中海贫血发生率9.62%(α:63.38%、β:33.26%、α合并β:3.36%),粤西地中海贫血发生率10.14%(α:58.96%、β:34.08%,α合并β:6.96%),粤北地中海贫血发生率6.27%(α:57.09%、β:37.78%、α合并β:5.13%)。结论本研究针对广东省四个地区育龄人群孕前地中海贫血筛查中地中海贫血的发生率和基因突变谱进行了详细的描述,为在本地区人群地中海贫血防治、出生缺陷干预和产前诊断提供了准确的依据。更多还原

【Abstract】 Objective To investigate the incidence, genotype and gene frequency of α-and β-thalassemia in the people of reproductive age in Guangdong Province, and to compare the incidence and different genotypes of thalassemia in Pearl River Delta, East Area, West Area and North Area of Guangdong,so as to further explain the significance of prenatal thalassemia screening in the intervention of birth defects in our province. Methods The population data of pre-pregnancy eugenic health examination from January 2016 to December 2019 were collected,and the population with positive thalassemia screening(MCV ≤ 82) and thalassemia gene test were counted. Results There were 15 943 cases of thalassemia among 210 887 couples of childbearing age in Guangdong Province, the detection rate was 7.56%. 10 051 cases were α-thalassemia, which accounted for 63.04% of thalassemia carriers. 5 098 cases were β thalassemia, which accounted for 31.98% of thalassemia carriers. 795 cases of combined α-/β-thalassemia,accounting for 4.99% of thalassemia carriers. The incidence of thalassemia in the Pearl River Delta, East Area, West Area and North Area was 7.09% (α 64.84%, β 30.23%, combined α/β 4.93% )、9.62% (α 63.38%, β 33.26%,combined α/β3.36%)、10.14% (α 58.96%, β 34.08%, combined α/β 6.96%)、6.27% (α 57.09%, β 37.78%, combined α/β 5.13%),respectively. Conclusion In this study, the incidence and gene mutation profile of thalassemia in the population of childbearing age in Guangdong Province were described in detail, and provided accurate basis for the prevention and treatment of thalassemia, birth defect intervention and prenatal diagnosis.更多还原