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遗传性椭圆形红细胞增多症

Hereditary elliptocytic anaemia.

作者信息

DAVIDSON R J, STRAUSS W T

出版信息

J Clin Pathol. 1961 Nov;14(6):615-21. doi: 10.1136/jcp.14.6.615.

Abstract

A sibship with four cases of hereditary elliptocytic anaemia is described. The condition in this family may have arisen as a mutation in the mother of the sibship; affected members were unable to taste phenylthiocarbamide while normal members were tasters. Experiments with (32)P-orthophosphate in vitro did not show any evidence of biochemical upset as found in hereditary spherocytosis; thus a combination of congenital spherocytosis and elliptocytosis cannot be supported as the cause of the haemolytic state. Clinical evidence of haemolytic disease was accompanied by a tendency to excessive lysis in vitro. Infection may play a part in the precipitation of anaemic crises in this as in other hereditary haemolytic anaemias.

摘要

本文描述了一个有4例遗传性椭圆形红细胞增多症的家系。该家族中的这种病症可能起因于家系中母亲的基因突变;患病成员无法尝出苯硫脲的味道,而正常成员则能尝出。用(32)P - 正磷酸盐进行的体外实验未显示出遗传性球形红细胞增多症中所发现的任何生化紊乱迹象;因此,先天性球形红细胞增多症和椭圆形红细胞增多症合并出现不能作为溶血状态的病因。溶血性疾病的临床证据伴有体外过度溶血的倾向。与其他遗传性溶血性贫血一样,感染可能在该病症贫血危象的诱发中起作用。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/537b/480304/b30f62d1b8d8/jclinpath00065-0054-a.jpg

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