葡萄牙首例罕见血红蛋白变异-血红蛋白孟费？：实验室诊断的重要性。

IF 1 4区医学 Q4 BIOCHEMISTRY & MOLECULAR BIOLOGY

Hemoglobin Pub Date : 2025-03-01 Epub Date: 2025-04-07 DOI:10.1080/03630269.2025.2486326

Catarina Alves de Oliveira, Nádia Sousa Martins, Olívia Ferrari, Celeste Bento

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引用次数: 0

摘要

糖化血红蛋白（HbA1c）是一个临床有用的参数，被认为是诊断和监测2型糖尿病的标准护理。然而，Hb变异的存在，包括Hb孟费？，可能会干扰HbA1c测定，影响结果的准确性。在这里，我们报告第一例诊断在葡萄牙这种罕见的血红蛋白变异。

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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First Case in Portugal of a Rare Hemoglobin Variant - Hb Montfermeil: Importance of Laboratory Diagnosis.

Hemoglobin A1c (HbA1c) is a clinically useful parameter, considered the standard-of-care for diagnosing and monitoring type 2 diabetes mellitus. However, the presence of Hb variants, including Hb Montfermeil, may interfere with HbA1c assay, affecting the accuracy of the results. Here, we report the first case diagnosed in Portugal of this rare hemoglobin variant.

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来源期刊

Hemoglobin 医学-生化与分子生物学

CiteScore

1.70

自引率

10.00%

发文量

审稿时长

3 months

期刊介绍： Hemoglobin is a journal in the English language for the communication of research and information concerning hemoglobin in humans and other species. Hemoglobin publishes articles, reviews, points of view The journal covers topics such as: structure, function, genetics and evolution of hemoglobins biochemical and biophysical properties of hemoglobin molecules characterization of hemoglobin disorders (variants and thalassemias), consequences and treatment of hemoglobin disorders epidemiology and prevention of hemoglobin disorders (neo-natal and adult screening) modulating factors methodology used for diagnosis of hemoglobin disorders