Compound heterozygous with Hb G-Taipei and Hb Lepore-Boston-Washington: An unexpected finding triggered by HbA1c measurement

IF 1.7 Q3 MEDICAL LABORATORY TECHNOLOGY

Practical Laboratory Medicine Pub Date : 2024-03-01 DOI:10.1016/j.plabm.2024.e00379

Yu Li , Anping Xu , Juan He , Limin Huang , Li Lin , Jie Li , Yong Xia , Ling Ji

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引用次数: 0

Abstract

Background

Hemoglobin A1c has been widely used to diagnose and monitor diabetes. However, the accuracy of HbA_1c analysis can be significantly affected by hemoglobin variants, leading to falsely low or elevated levels and misdiagnosis or inappropriate diabetes management.

Case report

In this study, we present the case of a 23-year-old man with undetectable HbA_1c levels during his annual checkup by high-performance liquid chromatography (HPLC) and capillary electrophoresis (CE). To investigate the reason for HbA_1c absence, Sanger sequencing, multiplex ligation-dependent probe amplification assay (MLPA), long-read single molecule real-time sequencing (SMRT) and MALDI-TOF mass spectrometry (MS) were performed, and the proband was identified as compound heterozygous of β-thalassemia with Hb G-Taipei (HBB:c.68A > G) and Hb Lepore-Boston-Washington (NG_000007.3:g.63632_71046del).

Conclusion

The combination of these molecular technologies including MLPA, long-read SMRT sequencing and MALDI-TOF MS is beneficial for identifying rare hemoglobin variants. This case also provides essential evidence for uncovering the effect of compound heterozygosity for Hb Lepore-Boston-Washington and Hb G-Taipei on hematological phenotypes and HbA_1c analysis.

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Hb G-台北和 Hb Lepore-波士顿-华盛顿的复合杂合子：HbA1c 测量引发的意外发现

背景血红蛋白 A1c 已被广泛用于诊断和监测糖尿病。然而，血红蛋白变异会严重影响 HbA1c 分析的准确性，导致 HbA1c 水平过低或过高，从而导致误诊或不恰当的糖尿病管理。本研究中，我们发现一名 23 岁的男性在年度体检中通过高效液相色谱法（HPLC）和毛细管电泳法（CE）检测不到 HbA1c 水平。为了探究 HbA1c 缺失的原因，研究人员进行了桑格测序、多重连接依赖性探针扩增分析（MLPA）、长线程单分子实时测序（SMRT）和 MALDI-TOF 质谱分析（MS）。结论将这些分子技术（包括 MLPA、长线程 SMRT 测序和 MALDI-TOF MS）结合起来，有利于鉴定罕见血红蛋白变异。本病例还为揭示 Hb Lepore-Boston-Washington 和 Hb G-Taipei 复合杂合性对血液表型和 HbA1c 分析的影响提供了重要证据。

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

Practical Laboratory Medicine Health Professions-Radiological and Ultrasound Technology

CiteScore

3.50

自引率

0.00%

发文量

审稿时长

7 weeks

期刊介绍： Practical Laboratory Medicine is a high-quality, peer-reviewed, international open-access journal publishing original research, new methods and critical evaluations, case reports and short papers in the fields of clinical chemistry and laboratory medicine. The objective of the journal is to provide practical information of immediate relevance to workers in clinical laboratories. The primary scope of the journal covers clinical chemistry, hematology, molecular biology and genetics relevant to laboratory medicine, microbiology, immunology, therapeutic drug monitoring and toxicology, laboratory management and informatics. We welcome papers which describe critical evaluations of biomarkers and their role in the diagnosis and treatment of clinically significant disease, validation of commercial and in-house IVD methods, method comparisons, interference reports, the development of new reagents and reference materials, reference range studies and regulatory compliance reports. Manuscripts describing the development of new methods applicable to laboratory medicine (including point-of-care testing) are particularly encouraged, even if preliminary or small scale.