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不稳定的低氧亲和力血红蛋白变异体的误识别。

Misidentification of unstable, low oxygen affinity hemoglobin variant.

作者信息

Jung Joanna, Garnett Emily, Vispo Beverley, Chen Xinpu, Cao Jing, Tarek Elghetany M, Devaraj Sridevi

机构信息

Department of Pathology & Immunology, Baylor College of Medicine, Houston, TX, USA.

Texas Children's Hospital, Houston, TX, USA.

出版信息

Clin Chim Acta. 2020 Oct;509:177-179. doi: 10.1016/j.cca.2020.06.023. Epub 2020 Jun 15.

Abstract

BACKGROUND

We present a case of Hemoglobin (Hgb) Louisville in a 6-y old girl presenting with hypoxia and mild hemolytic anemia.

METHODS

Hgb Louisville is a rare, unstable hemoglobin variant with low oxygen affinity, but initial workup of this case using widely-available hemoglobin fractionation methods was unable to differentiate this variant from normal hemoglobins.

RESULTS

This resulted in a delayed diagnosis.

CONCLUSION

This case highlights the limitations of routine hemoglobin fractionation methods for correct diagnosis of hemoglobin variants, and subsequent impact on patient care and management.

摘要

背景

我们报告一例6岁女孩血红蛋白(Hgb)路易斯维尔型病例,该女孩表现为缺氧和轻度溶血性贫血。

方法

Hgb路易斯维尔型是一种罕见的、不稳定的血红蛋白变异体,氧亲和力低,但使用广泛可用的血红蛋白分级分离方法对该病例进行的初步检查无法将这种变异体与正常血红蛋白区分开来。

结果

这导致了诊断延迟。

结论

本病例突出了常规血红蛋白分级分离方法在正确诊断血红蛋白变异体方面的局限性,以及对患者护理和管理的后续影响。

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