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[一个家族中的遗传性椭圆形红细胞增多症]

[Inherited elliptocytosis in a family].

作者信息

Stojimirović E, Milutinović S, Marunić Z

出版信息

Bilt Hematol Transfuz. 1977;5(3-4):173-8.

PMID:615604
Abstract

Elliptocytosis is a rare disease which is transmitted autosomally and dominantly and is mainly discovered on the occasion of the regular check up. Except for the changed morphology of erythrocytes at the stage of the cell maturity the disease most often appears without clinical symptoms. The boy and the members of his family presented here had a very mild form of the disease which was not followed by any clinical manifestations except for the changed morphology of the erythrocytes. Discreet laboratory abnormalities were present in the members of the maternal family. The disease is shown as a rare one and is interesting from the hematologist's point of view. The clinical importance of the disease is lower because of its rare occurrance in the human population and because of its rare and slight clinical expressivity.

摘要

椭圆形红细胞增多症是一种罕见的常染色体显性遗传病,主要在定期体检时被发现。除了细胞成熟阶段红细胞形态改变外,该病通常无临床症状。本文介绍的这名男孩及其家庭成员患有一种非常轻微的该病形式,除红细胞形态改变外无任何临床表现。其母系家族成员存在轻微的实验室异常。该病较为罕见,从血液学家的角度来看很有意思。由于其在人群中发病率低且临床表达罕见、轻微,所以该病的临床重要性较低。

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