用于血红蛋白病遗传筛查的实验室诊断技术  

The Laboratory Diagnostic Techniques Used for Carrier Test of Hemoglobinopathies

作　　者：周玉球[1] 李文典[1] 徐湘民[2] 

机构地区：[1]珠海市妇幼保健院,珠海市医学遗传研究所,519001 [2]南方医科大学医学遗传学教研室 ,广州510515

出　　处：《国际遗传学杂志》2008年第1期17-22,47,共7页International Journal of Genetics

基　　金：广东省自然科学基金（04101691）;广东省医学科研基金（A2003737）;珠海市科技计划项目（PC200310072）

摘　　要：血红蛋白病是世界上最为常见的人类单基因遗传病。它主要包括异常血红蛋白和地中海贫血（地贫）两组疾病，其中地贫是我国南方严重影响人口健康的致死性出生缺陷。我国长江以南的广大地域，特别是广东、广西和海南三省（区）则是该病的高发区，重型地贫患儿的出生已成为上述地区的公共卫生问题。通过基于人群水平的遗传筛查（即检出疾病基因携带者）和针对发现的高风险家庭实施产前诊断是目前公认的降低该病出生率的有效途径。本文主要就用于血红蛋白病遗传筛查的实验室诊断技术，特别是针对地贫的遗传筛查技术的应用和研究进展进行综述。Hemoglobinopathies is the commonest monogenic disorders worldwide. It falls into two groups ： the structural variants of hemoglobin and the thalassemias, of which, thalassemias have been seriously threatened the health of population in the south China, especially in Guangxi, Guangdong and Hainan Provinces. The birth of thalassemia major has become a public health care problem in above-mentioned area. It is proved to be highly effective in reducing dramatically severe thalassemia that by the based-population carrier screening for thalassemia and by the prenatal diagnosis aimed at the couples at risk for severe thalassemia. This article is focused on the laboratory diagnostic techniques that used for carrier test of hemoglobinopathies, especially on the application and the progress that has been made in genetic screening for thalassemia.

关 键 词：血红蛋白病 地中海贫血 遗传筛查 

分 类 号：R7[医药卫生—临床医学] R4