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◆ Cureus2026-09-01

Abnormally Low Hemoglobin A1c Due to a Heterozygous Alpha-Globin Variant (Hb I; HBA2 c.49A>G, p.Lys17Glu) in a Geriatric Patient.

Kourosh A Moshiri, Mahon Mahmodian

原始摘要(英文原文)· Original abstract
Hemoglobin A1c (HbA1c) is central to the screening, diagnosis, and longitudinal management of diabetes mellitus, but numerous physiologic and analytic factors can distort its accuracy. Hemoglobin variants are a well-recognized but frequently underappreciated source of spurious results, and the direction and magnitude of the error are highly method-dependent. We report an asymptomatic 75-year-old woman found to have a profoundly low HbA1c (<3.5%) in the setting of normoglycemia and a normal complete blood count. After exclusion of laboratory error and common confounders, alpha-globin gene sequencing revealed heterozygosity for the HBA2 c.49A>G (p.Lys17Glu) variant, designated Hb I. This variant has normal stability and produces no clinical phenotype in heterozygotes; its significance in this patient lies solely in its interference with HbA1c measurement. This case demonstrates that even a heterozygous, clinically silent alpha-globin variant can render HbA1c uninterpretable, and it emphasizes the particular hazard in older adults, in whom a falsely reassuring HbA1c may mask hyperglycemia or drive inappropriate treatment decisions and hypoglycemia. When HbA1c is unreliable, clinicians should rely on glucose-based diagnostic criteria and on direct glucose measurement (self-monitoring or continuous glucose monitoring), interpreting alternative biomarkers such as fructosamine with caution.
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Abnormally Low Hemoglobin A1c Due to a Heterozygous Alpha-Globin Variant (Hb I; HBA2 c.49A>G, p.Lys17Glu) in a Geriatric Patient. — 科研速览 Science Skim