广东省孕前高危夫妇地中海贫血基因诊断结果分析  

Genetic screening of pre-pregnancy high-risk thalassemia couples in Guangdong province

作　　者：赵文忠[1] 李铭臻[1] 顾恒[1] 周冰燚[1] 朱志勇[1] 郑立新[1] 

机构地区：[1]广东省计划生育科学技术研究所,广东广州510600

出　　处：《热带医学杂志》2015年第3期319-320,共2页Journal of Tropical Medicine

基　　金：广东省科技计划项目(2011B060300035);广东省计划生育科技项目(20110207)

摘　　要：目的通过孕前地中海贫血干预项目的实施,有效降低中间型地贫,基本避免重症地中海贫血患儿出生。方法利用聚合酶链反应(PCR)和反向斑点杂交法对1 485对初筛阳性地中海贫血夫妇进行α-与β-地中海贫血的基因型检测,并对其结果进行分析。结果需要进行产前诊断的共有550对,占初筛阳性地中海贫血夫妇的37.04%。其中Hb Bart's类为282对,占18.99%;血红蛋白H病类为152对,占10.24%;β双重杂合子类为96对,占6.46%;β纯合子类为20对,占1.35%。结论开展孕前地中海贫血基因检测,对于有效降低中间型地贫,基本避免重症地中海贫血患儿出生,提高我省出生人口素质具有重要意义。Objective To analyze the results of genetic screening of pre-pregnancy high-risk thalassemia couples in Guangdong province and prevent the birth rates of thalassemia major and thalassemia intermediate. Methods Polymerase chain reaction and hybridization were used to detected the genotype of thalassemia for 1 485 couples, who were screened positive for thalassemia and brought to our unit. Results In the 1 485 couples,550 couples were needed prenatal diagnosis, accounting for 37.04%.Geneotyping detected 282 of Hb Bart＇s, 152 of HBH, 96 of βdouble heterozygote,and20 of β homozygote,with the percentage of 18.99%,10.24%,6.46%,1.35%,respectively. Conclusions Genetic screening of pre-pregnancy high-risk thalassemia couples could prevent the birth of thalassemia major and thalassemia intermediate.It is important to improve the quality of newborn population in Guangdong province.

关 键 词：地中海贫血 基因检测 夫妇 

分 类 号：R556.61[医药卫生—血液循环系统疾病]