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地中海贫血的产前诊断研究进展 被引量:3

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摘要 地中海贫血(简称地贫)是我国长江以南各省(区)发病率最高的一种单基因遗传病,主要类型是α和β地中海贫血,分别是由于α或β珠蛋白基因发生缺失或点突变,使其编码的人α或β珠蛋白链缺如或不足,导致严重的溶血性贫血。目前重型和中间型地中海贫血主要靠输血和去铁治疗维持,也可采用造血干细胞移植治疗手段,代价均十分昂贵,但也未能达到理想效果。通过产前诊断选择性流产受累胎儿是世界上公认的首选对策。
作者 黄金芬
出处 《中国优生与遗传杂志》 2015年第12期123-125,共3页 Chinese Journal of Birth Health & Heredity
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参考文献23

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共引文献48

同被引文献26

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