Ｇ６ＰＤ 缺乏症诊疗及其与地中海贫血关联发病研究新进展

永嫦 凌, 妹燕 李, 俊利 王

摘要


葡萄糖-6-磷酸脱氢酶(glucose-6-phosphate dehydrogenase,G6PD)缺乏症属于X 连锁不完全显性遗传病,基 因突变是其主要发病原因。该疾病目前无特效治疗方法,早期预防和诊断是我 国 优 生 优 育 工 作 的 重 点 之 一,医 务 人 员 及 时 给 予患者合理的建议,让患者尽量避免使用有可能引起溶血 的 食 物 及 药 物,并 及 时 诊 治 该 疾 病 引 起 的 新 生 儿 高 胆 红 素 血 症,是 预防和诊治该疾病的重点。G6PD 缺乏与地中海贫血是遗传上独立的溶血性疾病,但近年来研究者 发 现 G6PD 与 地 中 海 贫 血 发病存在关联。因此,本文对 G6PD 缺乏症的诊疗及与地中海贫血之间的关联发病进行了简要综述。

关键词


G6PD 缺乏;诊疗进展;地中海贫血; 关联发病

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参考


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DOI: https://doi.org/10.36012/pmr.v2i5.2740

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