地中海贫血的诊断技术

刘 大玉, 普翠 芬*, 王 雪茵
大理大学第一附属医院

摘要


地中海贫血（Thalassemia）又称海洋性贫血，是因人体珠蛋白基因缺失或突变而引起的一种慢性溶血性贫
血。它是一种常染色体隐性遗传病，通过婚前及产前检查等方式对育龄期妇女进行地贫的筛查和诊断，避免严重地
贫儿童的出生，同时对降低严重地贫新生儿的出生率起到尤为突出的作用。

关键词


地中海贫血；珠蛋白；基因突变

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参考


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