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[俄罗斯首例卡姆登血红蛋白携带病例]

[The first case of Hb Camden carriage in Russia].

作者信息

Aseeva E A, Lutsenko I N, Pivnik A V, Spivak V A, Beliaeva L S, Kremenetskaia A M, Saad V

出版信息

Ter Arkh. 1993;65(7):49-51.

PMID:8211780
Abstract

Structural hemoglobinopathy due to carriage of Hb Camden was diagnosed in a male patient and his mother. Anomalous Hb was detected after a detailed analysis of the clinical evidence, blood smears microscopy, marrow examination, data obtained by a complex of methods to identify unstable Hb. It was defined as Hb Camden beta 131 GLN-->GLU. The carriage of this variant brings no clinical manifestations, but leads to impaired red cells morphology, decline of their life span, enhanced hemolysis. These properties are typical for mutant Hb lacking stability. Hb Camden carriage is considered as a compensatory hemolytic process.

摘要

一名男性患者及其母亲被诊断出因携带卡姆登血红蛋白(Hb Camden)而患有结构性血红蛋白病。在对临床证据、血涂片显微镜检查、骨髓检查以及通过一系列鉴定不稳定血红蛋白的方法所获得的数据进行详细分析后,检测到了异常血红蛋白。它被确定为卡姆登血红蛋白β131谷氨酰胺→谷氨酸。这种变体的携带没有带来临床表现,但导致红细胞形态受损、寿命缩短、溶血增强。这些特性是缺乏稳定性的突变血红蛋白所特有的。携带卡姆登血红蛋白被认为是一种代偿性溶血过程。

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