Application of capillary electrophoresis-high-resolution mass spectrometry to diagnose 2 rare hemoglobin variants in the San Francisco Bay area.

Laboratory medicine Pub Date : 2025-06-25 DOI:10.1093/labmed/lmaf029

Chenyin Lu, Carolyn V Wong, Priscilla S W Yeung, Ruben Y Luo

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Abstract

Introduction: Hemoglobin (Hb) variants are genetic disorders that lead to structural impairment of Hb. Most of these disorders lack clinical symptoms and are typically detected through prenatal, newborn, or routine health screenings. Hemoglobinopathy evaluation typically starts with screening tests performed by electrophoresis or liquid chromatography. In some cases, on top of the conventional test results, racial or geographic information is incorporated to assess high-risk populations for certain mutations, but this addition can also at times be misleading.

Methods: This report presents 2 rare cases of Hb variants in the San Francisco Bay area that were diagnosed using the capillary electrophoresis-high-resolution mass spectrometry (CE-HR-MS) method: Hb New York trait in case 1 and Hb Al-Ain Abu Dhabi trait in case 2.

Results: Overall, these results demonstrate the utility of CE-HR-MS as an updated approach to definitively diagnose hemoglobin variants.

Discussion: CE-HR-MS has the potential to be implemented into clinical practice as an alternative diagnostic method to gene sequencing.

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应用毛细管电泳-高分辨率质谱法诊断旧金山湾区2种罕见的血红蛋白变异。

简介：血红蛋白（Hb）变异是导致Hb结构损伤的遗传性疾病。这些疾病大多缺乏临床症状，通常通过产前、新生儿或常规健康筛查发现。血红蛋白病的评估通常从电泳或液相色谱的筛选试验开始。在某些情况下，在常规测试结果的基础上，种族或地理信息被纳入评估某些突变的高风险人群，但这种添加有时也会产生误导。方法：本文报道了旧金山湾区使用毛细管电泳-高分辨率质谱（CE-HR-MS）方法诊断的2例罕见Hb变异病例：病例1为Hb纽约性状，病例2为Hb Al-Ain Abu Dhabi性状。结果：总的来说，这些结果证明了CE-HR-MS作为明确诊断血红蛋白变异的最新方法的实用性。讨论：CE-HR-MS有潜力作为基因测序的替代诊断方法应用于临床实践。

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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Laboratory medicine

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