摘要
目的 了解秀山土家族苗族聚集地珠蛋白生成障碍性贫血(下称地中海贫血)的患病现状、基因类型及构成比,完善地中海贫血的流行病学资料库,建立地中海贫血筛查预防体系,普及地中海贫血的医学知识,为指导本地区的优生优育提供科学依据。方法 将2 289例疑似地中海贫血标本[平均红细胞体积(MCV)<82fL且平均红细胞血红蛋白含量(MCH)<27pg]进行地中海贫血基因检测。结果 发现α-地中海贫血313例,检出率为13.67%,主要基因型为--SEA/αα、-α3.7/αα和-α4.2/αα;β-地中海贫血552例,检出率为24.12%,以CD41-42、CD17和IVS-Ⅱ-654为主要突变类型,占所有检出突变位点的94.22%。结论 秀山土家族苗族聚集地地中海贫血的检出率和患病率均较高,且有其独特的地贫基因突变模式,亟待建立地中海贫血的防控计划。
Objective To investigate the incidence and the gene mutation frequencies and patterns of thalassemia in Xiushan Tujia and Miao ethnic areas,to improve the epidemiological database of thalassemia,to establish a screening and prevention system for thalassemia,and to popularize the medical knowledge of thalassemia,so as to provide a scientific basis for the guidance of eugenic and healthy birth in this area.Methods A total of 2289 suspected thalassemia specimens(MCV<82 fL and MCH<27 pg)were subjected to DNA sequencing analysis of thalassemia gene.Results 313 cases ofα-thalassemia carriers were observed from the 2289 samples,with the positive rate being 13.67%.The main genotypes were--SEA/αα,-α3.7/ααand-α4.2/αα.552 cases ofβ-thalassemia carriers were observed from the 2289 samples,with the positive rate being 24.12%.The three most common mutations were as the following:CD41-42,CD17 and IVS-Ⅱ-654,accounting for 94.22%in all detected mutation sites.Conclusion The prevalence and detection rate of thalassemia in Xiushan Tujia and Miao ethnic areas are relatively high,and there is a unique mutation pattern of thalassemia gene.Therefore,it is urgent to establish the prevention and control system of thalassemia.
作者
冉青清
彭智
张羽锋
彭雪琴
刘倩
王旭梅
石民明
RAN Qingqing;PENG Zhi;ZHANG Yufeng;PENG Xueqin;LIU Qian;WANG Xumei;SHI Minming(Department of Clinical Laboratory,People′s Hospital of Xiushan Tujia and Miao Autonomous County,Chongqing 409900,China;Editorial Department of Chinese Journal of Hepatology,Second Hospital Affiliated to Chongqing Medical University,Chongqing 400010,China;Department of Pediatrics,People′s Hospital of Xiushan Tujia and Miao Autonomous County,Chongqing 409900,China)
出处
《国际检验医学杂志》
CAS
2020年第1期45-49,共5页
International Journal of Laboratory Medicine
基金
重庆市卫生和计划生育委员会指导项目（2017ZBXM073）
