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自发性突变导致不稳定血红蛋白引起的溶血性贫血——病例报告

Hemolytic anaemia due to unstable hemoglobin arising from spontaneous mutation--a case report.

作者信息

Dash Sumitra, Menon Santosh, Marwaha R K

机构信息

Department of Haematology, Postgraduate Institute of Medical Education and Research, Chandigarh.

出版信息

Indian J Pathol Microbiol. 2006 Apr;49(2):269-70.

Abstract

9 years old male child presented clinically with thalassaemia intermedia phenotype. Investigations revealed hemolytic anaemia due to an unstable hemoglobin. Parents were found negative for the abnormal hemoglobin, suggesting a spontaneous mutation in the child. This is the third case of unstable hemoglobin to be reported from India. Clinically it is important that unstable hemoglobin should be suspected in a patient with thalassaemia intermedia phenotype even if both parents are haematologically normal.

摘要

一名9岁男童临床表现为中间型地中海贫血表型。检查发现由于不稳定血红蛋白导致溶血性贫血。父母的异常血红蛋白检测为阴性,提示该患儿存在自发突变。这是印度报道的第三例不稳定血红蛋白病例。临床上重要的是,即使父母血液学检查正常,对于具有中间型地中海贫血表型的患者也应怀疑存在不稳定血红蛋白。

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