珠蛋白生成障碍性贫血的实验室诊断技术进展  

Advances in laboratory diagnostic techniques for thalassemia

作　　者：何召良(综述) 钟璋(审校) HE Zhaoliang;ZHONG Zhang(Department of Clinical Laboratory,Xinrongqi Hospital,Foshan,Guangdong 528300,China;Department of Clinical Laboratory,Heyoumeihe Hospital,Foshan,Guangdong 528300,China)

机构地区：[1]广东省顺德新容奇医院检验科,广东佛山528300 [2]广东省顺德和祐美和医院检验科,广东佛山528300

出　　处：《检验医学与临床》2024年第S01期139-142,共4页Laboratory Medicine and Clinic

摘　　要：珠蛋白生成障碍性贫血是由于遗传基因缺陷所致的至少一种珠蛋白链合成缺乏或不足,继而引起的贫血或病理状态。目前珠蛋白生成障碍性贫血的实验室诊断技术以血常规、血红蛋白电泳等的筛查技术和以PCR为基础的各种基因诊断技术为主。本文针对近年珠蛋白生成障碍性贫血常用的几种筛查技术及基因诊断法作出综述,旨在为选择有效及合适的诊断技术提供参考。Thalassemia is due to genetic defects caused by at least one globin chain synthesis lack or insufficiency,and then caused by anemia or pathological state.At present,the laboratory diagnostic techniques of thalassemia are mainly based on screening techniques such as blood routine,hemoglobin electrophoresis and various gene diagnostic techniques based on PCR.In this paper,several screening techniques and genetic diagnosis methods commonly used in recent years for thalassemia were reviewed,aiming to provide reference for the selection of effective and appropriate diagnostic techniques.

关 键 词：珠蛋白生成障碍性贫血 筛查 基因诊断 

分 类 号：R446[医药卫生—诊断学]