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地中海贫血的诊断和干预研究近状 被引量:4

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摘要 地中海贫血又称海洋性贫血,1925年首次报告,首例患者被描述为特殊相貌以及部分骨骼改变的儿童贫血。一直以来,研究重点一直放在遗传学以及病理生理学的改变上,直到David Weatherall爵士利用含有放射性标记氨基酸网织红细胞,产生有缺陷的α和β链,才证明了由于调控珠蛋白合成的基因缺失或突变所导致的构成血红蛋白α链和β链的珠蛋白合成比例失衡是该疾病的最终病因。
作者 苏珊珊
出处 《山西医药杂志》 CAS 2015年第5期515-518,共4页 Shanxi Medical Journal
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参考文献17

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二级参考文献60

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