摘要
α－地中海贫血和β-地中海贫血在我国广西、广东、四川等省发病率较高。目前临床上仍然缺乏有效治疗手段，防止重症地中海贫血患儿的出生是控制该病发生的最为经济有效的措施，而通过实验室检查有效筛查和正确诊断地中海贫血十分重要。地中海贫血的实验室诊断分为常规诊断和基因诊断两大类。常规诊断项目主要为血液学检查内容，一般包括红细胞参数测定、红细胞渗透脆性试验、血红蛋白组分分析等。这些指标没有一种能独立用于地中海贫血携带者的诊断，必须进行联合检测。地中海贫血的确定诊断还需进行基因突变检测或珠蛋白链合成分析，目前基因突变检测技术已经成为地中海贫血诊断的主要方法和金标准。
The incidence of α-thalassemia and β-thalassemia is high in Guangxi, Guangdong, Sichuan and other province in China. Because no effective approach to thalassemia treatment could be used clinically now,the most cost-effective strategy to control this disease is to prevent the birth of babies with severe form of thalassemia. It is important to make effective screening and correct diagnosis of thalassemia by laboratory test. Laboratory diagnosis of thalassemia includes routine diagnosis and genetic diagnosis. The laboratory routine tests are some hematology examination, comprising red blood cell indices, erythrocyte osmotic fragility test, hemoglobin analysis, and others. Anyone alone of these laboratory parameters can not be used to diagnose the earrier of thalassemia. It is necessary to combine these tests to make screening diagnosis. The final diagnosis of thalassemia need to perform the gene mutation examination or globin train analysis. Technologies for gene mutation detection have been the main and gold standand method of diagnosing thalassemia now.
出处
《中华检验医学杂志》
CAS
CSCD
北大核心
2012年第5期385-389,共5页
Chinese Journal of Laboratory Medicine
