广州海珠区地中海贫血基因诊断结果分析与研究

Analysis of thalassemia screening and gene diagnosis in the populations at reproductive age

目的对育龄人群进行地中海贫血筛查以预防重症地贫患儿的出生。方法利用血液学表型的分析、Gap-PCR及反向斑点杂交检测技术(reverse dot blot,RDB),对8095例育龄人群进行α、β地中海贫血筛查和基因诊断。结果血液学筛查出地贫阳性携带者为43.1%;其中3460例接受α、β地贫基因诊断,其中检出α地贫511例、β地贫352例、αβ复合地贫20例,检出率分别为14.77%、10.17%和0.58%。结论地贫在中国南方人群携带率很高,加强对育龄人群的地贫筛查和产前诊断,是预防重型地贫儿出生的有效措施。

Objective：To screen the thalassemia for child-bearing age populations to prevent the birth with severe case of thalassemia.Methods：8095 blood samples with child-bearing populations were screened for thalassemia by phenotypic analysis with hematological screening,molecular analysis with Gap-PCR and reverse dot blot.Results：The total frequency with the carrier of thalassemia is 43.1%,and of the total 3460 samples were performed to gene diagnosis for α and β globin gene.The results presented that there were 511 carriers with α thalassemia,352 carriers with β thalassemia,20 carriers with compound α and β thalassemia,the frequency was 14.77%、10.17% and 0.58% respectively.Conclusion：The high frequency of thalassemia is existed in Southern China,and the population screening and prenatal diagnosis with the thalassemia is necessary to prevent the birth with severe case of thalassemia.