伴有不稳定己糖激酶变异体的先天性非球形细胞溶血性贫血
Congenital nonspherocytic hemolytic anemia with an unstable hexokinase variant.
作者信息
Board P G, Trueworthy R, Smith J E, Moore K
出版信息
Blood. 1978 Jan;51(1):111-8.
PMID:618553
Abstract
We report a family with a new hexokinase variant that gives rise to nonspherocytic hemolytic anemia in one apparently homozygous family member. The variant enzyme has a normal pH optimum, normal reaction kinetics, and normal electrophoretic properties, but has reduced activity and is apparently inactivated rapidly as the affected erythrocytes age.
摘要
我们报告了一个家族，其中一种新的己糖激酶变体在一名明显为纯合子的家族成员中引发了非球形红细胞溶血性贫血。该变体酶具有正常的最适pH值、正常的反应动力学和正常的电泳特性，但活性降低，并且随着受影响的红细胞老化，其活性明显迅速丧失。
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Congenital nonspherocytic hemolytic anemia with an unstable hexokinase variant.伴有不稳定己糖激酶变异体的先天性非球形细胞溶血性贫血
Blood. 1978 Jan;51(1):111-8.
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Congenital nonspherocytic hemolytic anemia associated with an unusual erythrocyte hexokinase abnormality.与一种异常红细胞己糖激酶异常相关的先天性非球形细胞溶血性贫血。
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