珠蛋白生成障碍性贫血的实验室诊断进展

Progress in Laboratory Diagnosis of Thalassemia

珠蛋白生成障碍性贫血是人类常见的特异性隐性单基因遗传病,是由于某类珠蛋白合成受抑制所引起的溶血性贫血,在我国常见于南方人群,具有发病率高、重症患者胎儿病死率高等特点,目前尚无彻底根治的方案。筛选恰当的珠蛋白生成障碍性贫血实验诊断方法对该病的预防具有重要意义。该文回顾总结珠蛋白生成障碍性贫血的实验室诊断方法,阐述将筛查法和基因诊断法有机结合在珠蛋白生成障碍性贫血的实验室诊断、筛查方面的特点。

Thalassemia is a common human single gene specific recessive genetic disease.It is due to certain types of globin synthesis inhibition caused by hemolytic anemia.In China it＇ s usually seen in the south with a high incidence,and fetal mortality of the patients with serious condition is high,for which cure solution is still in need.Screening appropriate experimental diagnostic methods for the prevention of the disease is of great significance.Here is to summarize thalassemia＇s laboratory diagnostic methods,dynamic integration of the screening and genetic diagnosis,which makes the corresponding contribution to the thalassaemia＇s laboratory diagnosis and screening.