长沙地区10987例育龄人群地中海贫血筛查结果分析

Analysis on screening of thalassemia among 10987 peoples reproductive age in Changsha area

目的初步了解长沙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10987例育龄人群外周血的平均红细胞容积(MCV)平均红细胞血红蛋白含量(MCH)和血红蛋白电泳进行地中海贫血的筛查。对筛查阳性者用Gap-PCR及反向斑点膜条杂交技术(Reverse Dot Blot Hybridization,RDB)法进行α、β地中海贫血基因诊断。结果 10987例育龄人群中,血红蛋白分析筛出可疑α地贫495例,β地贫317例。阳性率为7.39%。其中419例接受α、β地贫基因检测,确诊α地贫74例,β地贫123例,α、β复合地贫7例,筛查阳性诊断率分别为23.34%;75%;1.67%。结论长沙毗邻地贫高发区,人群携带率也较高,其α、β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 changsha city to provide information for prevent the birth with severe case of thalassemia. Methods： 10 987 blood samples with childbearing populations were screened for thalassemia by phenotypie analysis with hematological screening,the positive cases were further tested by polymerase chain reaction（ PCR） to confirm α- thalassemia gene cases,By using PCR with Reverse Dot Blot Hybridization（ RDB） to confirm their β- thalassemia mutations. Results： the positive screening divided into α and β- thalassemia were 495 cases and 317 cases of phenotype,and of the total 419 cases were performed to gene diagnosis for α and β globin gene. The results presented that there were 74 carriers with α- thalassemia,123carriers with β- thalassemia,7carriers with compound α and β thalassemia,the frequency was 23. 34%; 75%; 1. 67%. Conclusion： The characteristics of α and β 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 prevent severe thalassemia futus to born.