Case Report: Abnormally low hemoglobin A1c in a diabetic patient with SLC4A1 gene mutation

Background: Hemoglobin A1c (HbA1c) is a critical biomarker used for the diagnosis and management of diabetes. However, nonglycemic genetic variations may affect the accuracy of HbA1c measurements. Methods: variants in Chinese population. Results: variants. Conclusions: c.1239_1241del variant, which perturbs HbA1c via nonglycemic mechanisms, likely through a reduction in the erythrocyte lifespan, and similar variants may not be rare in Chinese population.