贵州省黔西南布依族苗族自治州地中海贫血筛查及基因分型

Thalassemia screening and genotyping in Southwest Guizhou Autonomous Prefecture of Guizhou Province

目的了解黔西南布依族苗族自治州(简称黔西南州)地中海贫血筛查及基因分型情况,为临床诊断地中海贫血及可疑病例提供理论参考。方法以2016年1月至2020年12月在黔西南州人民医院进行地中海贫血基因筛查的孕妇、配偶和新生儿为研究对象,采集外周血或脐带血样本提取DNA。采用间隙-聚合酶链式反应(Gap-PCR)和高通量测序(NGS)技术进行地中海贫血筛查,并运用ArcMap 10.8软件基于筛查数据绘制地中海贫血空间分布图。结果共筛查黔西南州各地区人群67185例,检出地中海贫血基因携带者8202例,总检出率为12.21%;其中,α地中海贫血5660例,检出率为8.42%;β地中海贫血2132例,检出率为3.17%;αβ复合地中海贫血410例,检出率为0.61%。在地中海贫血基因检测中,α地中海贫血基因型检出27种,以αα/-α3.7为主,占41.13%(2328/5660);β地中海贫血基因型检出33种,以β^(CD17(A>T))/βA基因型为主,占44.09%(940/2132);αβ复合地中海贫血基因型检出55种,以αα/-α3.7复合β^(CD17(A>T))/βA为主,占21.22%(87/410)。在地中海贫血空间分布中存在高发区,为望谟县、册亨县,检出率分别为26.76%(1438/5374)、24.39%(1314/5387)。结论黔西南州地中海贫血基因检出率较高,以α地中海贫血的αα/-α3.7基因型为主;望谟县和册亨县为地中海贫血高发区,应继续加强筛查力度。

Objective To analyze the thalassemia screening and genotyping in Southwest Guizhou Autonomous Prefecture(referred it as Qianxinan Prefecture),this essay provides the theoretical reference for clinical diagnosis of thalassemia and suspicious cases.Methods The pregnant women,spouses and neonates who were screened for thalassemia gene in Qian Xi Nan People's Hospital from January 2016 to December 2020 were selected as the research subjects,and peripheral blood or umbilical cord blood samples were collected to extract DNA.The gap-polymerase chain reaction(Gap-PCR)and next-generation sequencing(NGS)technology were used to screen thalassemia,and ArcMap 10.8 software was adopted to map the local spatial distribution of thalassemia based on the screening data.Results A total of 67185 cases of people from various regions in Qianxinan Prefecture were screened,and 8202 cases of thalassemia gene carriers were detected,with a total detection rate of 12.21%.Among them,5660 cases ofα-thalassemia,with a detection rate of 8.42%;2132 cases ofβ-thalassemia,with a detection rate of 3.17%;410 cases ofαβcomplex thalassemia,with a detection rate of 0.61%.In the detection of thalassemia genes,27 genotypes ofα-thalassemia were detected,mainlyαα/-α3.7,accounting for 41.13%(2328/5660);33 genotypes ofβ-thalassemia were detected,mainlyβ^(CD17(A>T))/βA,accounting for 44.09%(940/2132);55 genotypes ofαβcomplex thalassemia were detected,andαα/-α3.7 complexedβ^(CD17(A>T))/βA dominated,accounting for 21.22%(87/410).There were high incidence areas in the spatial distribution of thalassemia,which were Wangmo County and Ceheng County,and the detection rate was 26.76%(1438/5374),24.39%(1314/5387),respectively.Conclusions The detection rate of thalassemia gene in Qianxinan Prefecture is relatively high,mainlyαα/-α3.7 genotype ofα-thalassemia.Wangmo County and Ceheng County are high-incidence areas of thalassemia,and screening efforts should be continued.