东莞地区26906对育龄夫妇地中海贫血筛查结果分析  

Analysis on screening of thalassemia among 26 906 peoples reproductive age in Dongguang area

作　　者：钟鸣[1] 姜碧[1] 刘惠[1] 姚倩瑜[1] 叶泳[1] 韦思似 莫清萍[1] 

机构地区：[1]东莞市计划生育服务中心检验科,东莞523000

出　　处：《中国优生与遗传杂志》2015年第5期25-26,共2页Chinese Journal of Birth Health & Heredity

摘　　要：目的初步了解东莞地区育龄人群地中海贫血患病率及其基因类型,加强该地区育龄人群地中海贫血筛查工作以预防重症地贫患儿的出生。方法通过检测26 906对育龄夫妇外周血的平均红细胞容积(MCV)平均红细胞血红蛋白含量(MCH)和红细胞脆性(一管法)进行地中海贫血的筛查。对筛查阳性者送广州金域检验进行α、β地中海贫血基因诊断,对夫妇双方筛查同为阳性者的夫妇同时送广东省计划生育科研所进行α、β地中海贫血基因诊断。结果 26 906对育龄夫妇中,平均红细胞容积(MCV)平均红细胞血红蛋白含量(MCH)筛查阳性者6891例,红细胞脆性(一管法)筛查阳性者3717例。其中6973例接受α、β地贫基因检测,确诊a地贫3328例(6.18%),β地贫1493例(2.77%),α、β复合地贫135例(0.25%),筛查阳性诊断率分别为71.5%;85%。结论东莞地区是地贫高发区,人群携带率也较高,其α、B地贫基因型分布的特点符合中国南方地区的基本特点。对育龄人群进行地贫的筛查和基因诊断,是预防重型地贫儿出生的有效措施。Objective： To observe the genotypes of thalassemia in childbearing age population in Dongguang city to provide information for prevent the birth with severe case of thalassemia. Methods： 26 906 blood samples with childbearing populations were screened for thalassemia by phenotypie analysis, the positive cases were further tested by polymerase chain reaction （PCR） to confirm ct-thalassemia gene cases, By using PCR with Reverse Dot Blot Hybridization （RDB） to confirm their 13--thalassemia mutations. Results： the positive screening divided into thalassemia were 6973 cases of phenotype, and of the total 6973 cases were performed to gene diagnosis for globin gene.The results presented that there were 3328 carriers with oL-thalassemia, 1493 carriers with ^-thalassemia, 7carriers with compound a and 135 thalassemia, the frequency was 75%~ 85%. Conclusion： The characteristics of a and B thalassemia genotybe in changsha were consistent with that in south area of china.To carry out genetic screening and diagnosis of thalassemia in changsha area is the best effective measure to preventsevere thalassemia futus to born.

关 键 词：地中海贫血 筛查 基因诊断 

分 类 号：R556.61[医药卫生—血液循环系统疾病]