Hemoglobin Yanase can lead to inaccurate diabetes diagnoses when using HbA1c measurement by HPLC

4区医学 Q3 Nursing

Endocrinologia, Diabetes y Nutricion Pub Date : 2026-05-01 Epub Date: 2025-11-20 DOI:10.1016/j.endinu.2025.501716

Pedro Moral Parras , Alba Martínez Chamorro , Luis Romero Reyes , Paloma Ropero Gradilla , Antonio Fernández Suárez

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Abstract

Glycated hemoglobin (HbA1c) is essential for diagnosing and monitoring diabetes mellitus (DM). However, hemoglobin (Hb) variants can alter its measurement using high-performance liquid chromatography (HPLC), compromising the patients’ diagnosis and follow-up. The limited information in databases such as HbVar and IthaNet makes it difficult to interpret and classify these variants.

HbA1c levels in the patient group were uninterpretable when measured using ion-exchange HPLC (Tosoh G8), suggesting possible assay interference. By using alternative methods of immunoassay and capillary electrophoresis, normal HbA1c concentrations were obtained. Genetic testing in all patients confirmed the presence of a variant in the Hb α2 gene, Hb-Yanase.

Hb-Yanase is a poorly documented variant globally, which could be underestimated in Spain. Its phenotype and degree of pathogenicity are uncertain due to the small number reported and the existence of outdated databases. In the described group, no patient showed variant-related pathophysiological alterations.

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当使用HPLC测定HbA1c时，血红蛋白Yanase可能导致不准确的糖尿病诊断

糖化血红蛋白（HbA1c）对于诊断和监测糖尿病（DM）至关重要。然而，血红蛋白（Hb）变异可以改变其使用高效液相色谱（HPLC）的测量，影响患者的诊断和随访。HbVar和IthaNet等数据库中有限的信息使得很难解释和分类这些变异。当使用离子交换高效液相色谱（Tosoh G8）测量时，患者组的HbA1c水平无法解释，提示可能存在检测干扰。采用免疫测定法和毛细管电泳法，获得正常的HbA1c浓度。所有患者的基因检测均证实Hb α2基因Hb- yanase存在变异。Hb-Yanase在全球范围内是一种记录不足的变异，在西班牙可能被低估了。其表型和致病性由于报告的数量少和存在过时的数据库而不确定。在所描述的组中，没有患者表现出变异相关的病理生理改变。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Endocrinologia, Diabetes y Nutricion Nursing-Nutrition and Dietetics

CiteScore

2.10

自引率

0.00%

发文量

169

审稿时长

35 days

期刊介绍： Endocrinología, Diabetes y Nutrición is the official journal of the Spanish Society of Endocrinology and Nutrition (Sociedad Española de Endocrinología y Nutrición, SEEN) and the Spanish Society of Diabetes (Sociedad Española de Diabetes, SED), and was founded in 1954. The aim of the journal is to improve knowledge and be a useful tool in practice for clinical and laboratory specialists, trainee physicians, researchers, and nurses interested in endocrinology, diabetes, nutrition and related disciplines. It is an international journal published in Spanish (print and online) and English (online), covering different fields of endocrinology and metabolism, including diabetes, obesity, and nutrition disorders, as well as the most relevant research produced mainly in Spanish language territories. The quality of the contents is ensured by a prestigious national and international board, and by a selected panel of specialists involved in a rigorous peer review. The result is that only manuscripts containing high quality research and with utmost interest for clinicians and professionals related in the field are published. The Journal publishes Original clinical and research articles, Reviews, Special articles, Clinical Guidelines, Position Statements from both societies and Letters to the editor. Endocrinología, Diabetes y Nutrición can be found at Science Citation Index Expanded, Medline/PubMed and SCOPUS.