EXTREME HEMOLYSIS + RED-CELL DISTORTION IN ERYTHROCYTE PYRUVATE KINASE DEFICIENCY .I. MORPHOLOGY ERYTHROKINETICS + FAMILY ENZYME STUDIES
EXTREME HEMOLYSIS + RED-CELL DISTORTION IN ERYTHROCYTE PYRUVATE KINASE DEFICIENCY .I. MORPHOLOGY ERYTHROKINETICS + FAMILY ENZYME STUDIES
复制标题
DOI：
10.1056/nejm196405142702001
复制
发表时间：
1964-01-01
影响因子：
158.5
通讯作者：
NATHAN, DG
中科院分区：
文献类型：
--
作者：
OSKI, FA;DIAMOND, LK;NATHAN, DG
一个男孩的历史与严重的溶血性贫血与纯合子丙酮酸激酶缺乏症。红细胞存在明显的形态学异常，与棘红细胞增多综合征中观察到的异常有点相似，但患者血清β脂蛋白正常。患者的母亲被发现是丙酮酸激酶性状和葡萄糖-6-磷酸脱氢酶缺陷性状的携带者。她有轻度网织红细胞增多症和红细胞存活期缩短。
The history of a boy with a severe hemolytic anemia associated with homozygous pyruvate kinase deficiency is presented. Marked morphologic abnormalities of the erythrocytes were present and were somewhat similar to the abnormalities observed in the syndrome of acanthocytosis, but the patient had normal serum beta lipoproteins. The patient''s mother was found to be a carrier of both the pyruvate kinase trait and the glucose-6-phosphate-dehydrogenase-deficiency trait. She had a mild reticulocytosis and a shortened red-cell survival.