Abnormal High HbA1c Caused by Hb Takasago Variant Firstly in a Chinese Pedigree.

Abstract

Background: Over a thousand types of hemoglobin variants have been reported. It is necessary to understand the impact of variants on the accuracy of various methods. The effect of hemoglobin variants on HbA1c determination depends on different detection methods.

Methods: A 53-year-old female presented with abnormally elevated glycated hemoglobin (HbA1c) in a routine medical check-up. Capillary electrophoresis (CE) indicated the presence of hemoglobin variant. In the family screening, we found her mother, sister, and daughter all had the same heterozygous mutation (c.397A > G, K133E) in the HBB gene.

Results: This is the first known familial case of Hb Takasago in China. Improving the understanding of hemoglobin variants has important medical significance. In the case of abnormal HPLC chromatograms, it is crucial to apply appropriate detection methods, find accurate causes, and communicate with clinicians in a timely manner.

Conclusions: The use of appropriate HbA1c detection methods that are not affected by related variants can ensure the accuracy of the results. In the existence of abnormal HPLC chromatograms, it is necessary to communicate with clinical clinicians. Given its heredity and prevalence, effective screening for abnormal hemoglobinopathies is of great significance for improving the quality of the population.