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Hb A-考尔德代尔[δ2(NA2)组氨酸→天冬酰胺;:c.7C>A]以及使用阳离子交换高效液相色谱法时因干扰Hb A导致2型糖尿病误诊:一例报告

Hb A-Calderdale [δ2(NA2)His→Asn; : c.7C>A] and Misdiagnosis of Type 2 Diabetes Mellitus Due to Interference with Hb A When Using Cation Exchange High Performance Liquid Chromatography: A Case Report.

作者信息

Stangerup Ida, Petersen Jesper, Glenthøj Andreas

机构信息

Department of Clinical Biochemistry, Bispebjerg and Frederiksberg Hospital, Copenhagen, Denmark.

Department of Hematology, Danish Center for Hemoglobinopathies, Copenhagen, Denmark.

出版信息

Hemoglobin. 2021 May;45(3):207-209. doi: 10.1080/03630269.2021.1954945. Epub 2021 Jul 26.

Abstract

The Hb A-Calderdale variant [δ2(NA2)His→Asn, : c.7C>A] was described as a novel variant in 2014. However, a high performance liquid chromatography (HPLC) peak was never identified indicating that this fraction could be 'hiding' somewhere else in the chromatogram. In this case report, we present evidence that the physiochemical properties of Hb A-Calderdale resemble those of Hb A, resulting in a coelution in variant mode on the Tosoh G8 but not the Tosoh G11. This coelution results in an overestimation of Hb A and can potentially cause misdiagnosis of type 2 diabetes mellitus (T2DM).

摘要

血红蛋白A - 考尔德代尔变体[δ2(NA2)组氨酸→天冬酰胺,: c.7C>A]于2014年被描述为一种新型变体。然而,从未鉴定出高效液相色谱(HPLC)峰,这表明该组分可能“隐藏”在色谱图的其他位置。在本病例报告中,我们提供证据表明,血红蛋白A - 考尔德代尔的理化性质与血红蛋白A相似,导致在托索G8上以变体模式共洗脱,但在托索G11上不会。这种共洗脱导致血红蛋白A的高估,并可能导致2型糖尿病(T2DM)的误诊。

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