摘要
地中海贫血(简称地贫)的分类主要根据珠蛋白肽链缺失或合成减少的类型和临床特征,前者主要分为α、β、γ、δ、δβ等,临床主要以α及β地贫为主;后者根据是否依赖输血获得长期生存分为输血依赖型地贫和非输血依赖型地贫。其诊断主要包括筛查法和基因诊断法,前者以红细胞形态及理化性质为依据,包括血常规检查、红细胞形态学、血红蛋白电泳检查等,后者主要以PCR技术为核心,包括跨越断裂位点(gap-PCR)、实时荧光定量PCR、基因芯片、DNA测序等。该文综述地贫的分类及近年来实验室诊断方法,以筛查法和基因诊断法联合应用,为地贫的诊断提供参考。
The classification of thalassemia is mainly based on the types of the defective synthesis of the globin chains of adult hemoglobin A and clinical features;the former mainly includes α,β,γ,δ,δβ,etc.,and α or β thalassemia is the most common form of thalassemia;the latter is classified as transfusion-dependent thalassemia and non-transfuion-dependent thalassemia in terms of long-term survival depending on blood transfusion. The diagnostic techniques include screening test and genetic test:the former diagnostic method is mainly based on the morphology of red blood cells and the physical and chemical properities,including routine analysis of blood,red blood cell morphology and hemoglobin electrophoresis,etc.,and the latter is mainly based on PCR technology,including gap-PCR,real-time PCR,gene chip and DNA screening,etc.This paper reviews the classification and laboratory diagnosis techniques in thalassemia,combining comprehesive screening method with technique of genetic diagnosis,which appropriately contributes to the diagnosis of thalassemia.
作者
吴学东
徐肖肖
朱易萍
WU Xue-dong;XU Xiao-xiao;ZHU Yi-ping(Department of Pediatrics,Southern Hospital,Southern Medical University, Guangzhou 610041,China)
出处
《中国实用儿科杂志》
CSCD
北大核心
2018年第12期957-961,共5页
Chinese Journal of Practical Pediatrics
关键词
地中海贫血
分类
诊断
thalassemia
classification
diagnosis
