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血红蛋白邦在一个中国家庭中作为通过脉搏血氧仪测量的假性低氧血症的一个原因。

Haemoglobin Bonn in a Chinese family as a cause of spurious hypoxaemia measured by pulse oximetry.

机构信息

Department of Pathology, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong SAR, China.

出版信息

J Clin Pathol. 2010 Oct;63(10):947-9. doi: 10.1136/jcp.2010.078147.

Abstract

Haemoglobin (Hb) Bonn is a newly described benign Hb variant that causes falsely depressed oxygen saturation as measured by pulse oximetry. It was found to be associated with mild haemolysis. Since its first report in a German family, no further cases have been documented in the literature. We report the first Chinese family with this Hb variant and confirm its unusual clinical presentation. No evidence of haemolysis was seen. The absence of consistent abnormalities in routine Hb tests such as high-performance liquid chromatography and gel electrophoresis means that spurious hypoxaemia is the only clue to its presence, and genotypic analysis is the preferred method for definitive diagnosis. Its positive identification is important for counselling and will help to avoid unnecessary investigation and treatment for this benign condition.

摘要

血红蛋白(Hb)波恩是一种新描述的良性血红蛋白变异体,它可导致脉搏血氧饱和度测量值假性降低。据报道,该变异体与轻度溶血性贫血相关。自首次在一个德国家庭中报道以来,文献中尚无其他病例记录。我们报告了首例中国家庭的该血红蛋白变异体病例,并证实了其不同寻常的临床表现。未观察到溶血的证据。常规血红蛋白检测(如高效液相色谱和凝胶电泳)无一致异常,这意味着假性低氧血症是其存在的唯一线索,基因分析是明确诊断的首选方法。该变异体的阳性鉴定对于咨询非常重要,并有助于避免对这种良性情况进行不必要的检查和治疗。

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