珠蛋白生成障碍性贫血是一组全球常见的常染色体隐性遗传病,临床症状轻重不一,大部分表现 为慢性进行性溶血性贫血,而重症者胎死腹中或靠输血维持生命,目前对此病尚无有效的治疗方法.为提高地 中海贫血实验室诊断的准确性,减少漏诊和误诊,筛选合适的联合筛查和基因诊断方法对该病的诊断具有重要 意义.本文就近年来地中海贫血实验室诊断技术进展进行综述.%Thalassemia is a group of global common autosomal recessive genetic disease, with the clinical symptoms of varying severity, and most of the performance are chronic hemolytic anemia, and the severe cases maybe died in the uterus, or rely on blood transfusions to sustain life. However, the disease is still no effective treatment method. In order to improve the accuracy of the the thalassemia laboratory diagnosis, reduce misdiagnosis and miss diagnosis, screening appropriate laboratory diagnostic method of diagnosis is important for the disease. The laboratory diagnostic techniques progress on thalassemia in recent years was reviewed.
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