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三种与慢性非球形红细胞溶血性贫血相关的葡萄糖-6-磷酸脱氢酶新变体:葡萄糖-6-磷酸脱氢酶林肯公园型、葡萄糖-6-磷酸脱氢酶阿灵顿高地型和葡萄糖-6-磷酸脱氢酶西城型。

Three new variants of glucose-6-phosphate dehydrogenase associated with chronic nonspherocytic hemolytic anemia: G-6-PD Lincoln Park, G-6-PD Arlington Heights, and G-6-PD West Town.

作者信息

Honig G R, Habacon E, Vida L N, Matsumoto F, Beutler E

出版信息

Am J Hematol. 1979;6(4):353-60. doi: 10.1002/ajh.2830060407.

Abstract

Glucose-6-phosphate dehydrogenase (G-6-PD) deficiency was identified in three children who were evaluated because of chronic nonspherocytic hemolytic anemia. One child is of German extraction, another Puerto Rican, and the third Mexican. In each of the patients the hemolytic process was well compensated, but each had one or more episodes of anemia following exposure to an oxidant drug or with infections. The electrophoretic, functional, and kinetic properties of the mutant enzymes, derived both from the patients' erythrocytes and from cultured fibroblasts, allowed each to be distinguished from G-6-PD variants previously described.

摘要

在因慢性非球形红细胞溶血性贫血接受评估的三名儿童中发现了葡萄糖-6-磷酸脱氢酶(G-6-PD)缺乏症。一名儿童有德国血统,另一名是波多黎各人,第三名是墨西哥人。在每例患者中,溶血过程得到了良好的代偿,但每名患者在接触氧化药物或感染后都有一次或多次贫血发作。从患者红细胞和培养的成纤维细胞中获得的突变酶的电泳、功能和动力学特性,使每一种酶都能与先前描述的G-6-PD变体区分开来。

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