一名阿拉伯儿童患不稳定血红蛋白热那亚型（β28 亮氨酸→脯氨酸），伴有严重溶血性贫血和生长发育迟缓。
A case of the unstable Hb Genova (beta 28 Leu----Pro) in an Arab child associated with severe haemolytic anaemia and growth retardation.
作者信息
Hopmeier P, Binder C, Gadner H, Fischer M
机构信息
Central Laboratory, Municipal Hospital Lainz, Vienna, Austria.
出版信息
Acta Haematol. 1990;83(1):39-41. doi: 10.1159/000205161.
PMID:2105568
Abstract
The first case of unstable Hb Genova from North Africa is described. It was found in a 13-year-old girl from Libya suffering from chronic Heinz body haemolytic anaemia and growth retardation. The available data strongly suggest that this case represents a new example for a spontaneous mutation.
摘要
本文描述了北非首例不稳定血红蛋白热那亚病例。该病例为一名来自利比亚的13岁女孩，患有慢性亨氏小体溶血性贫血和生长发育迟缓。现有数据有力地表明，该病例代表了一个自发突变的新实例。
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