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

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.