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母亲和儿子患非球形红细胞溶血性贫血与己糖激酶缺乏有关。

Non-spherocytic haemolytic anaemia in mother and son associated with hexokinase deficiency.

作者信息

Newman P, Muir A, Parker A C

出版信息

Br J Haematol. 1980 Dec;46(4):537-47. doi: 10.1111/j.1365-2141.1980.tb06010.x.

Abstract

The case history, laboratory findings and properties of the enzyme in a patient with hexokinase deficiency are reported. The mother had a haemolytic disorder of similar severity. In these cases the expression of the disease in both mother and son suggests a dominant mode of inheritance. This family further illustrates the necessity of taking the reticulocyte level into account when interpreting red cell enzyme levels.

摘要

报告了一名己糖激酶缺乏症患者的病史、实验室检查结果及该酶的特性。母亲患有严重程度相似的溶血性疾病。在这些病例中,母亲和儿子均发病表明为显性遗传模式。这个家系进一步说明了在解释红细胞酶水平时考虑网织红细胞水平的必要性。

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