Hb Baise (HBA2: C.153_154insGACCTG): An Unexpectedly Discovered Novel Variant in Glycated Hemoglobin Testing

作者：Liang L, Ning L, Zheng L, Li B, Liang L, Li Y · 发表于：Hemoglobin · 年份：2026 · DOI：10.1080/03630269.2026.2669121 · 研究领域：Glycated Hemoglobin、Hemoglobins, Abnormal、Humans、Female、Heterozygote、Chromatography, High Pressure Liquid、Mutation

We report a novel α-globin chain variant identified in a Chinese female. This variant was incidentally detected during routine Hb A1c measurement. Analysis using the high-performance liquid chromatography (HPLC) D100 system yielded an Hb A1c value of 4.2% and revealed an unidentified peak constituting 25.41% of the chromatogram. In contrast, analysis with the H50 system reported an Hb A1c of 4.3% with no abnormal peaks detected. Subsequent hemoglobin fraction analysis by HPLC showed an abnormally elevated P3 peak (30.6%), while capillary electrophoresis (CE) resolved a distinct abnormal peak migrating to zone 12, accounting for 27.3% of the total hemoglobin. Sanger sequencing confirmed a heterozygous six-nucleotide insertion (+GACCTG) between codons 50 and 51 of the HBA2 gene. This specific mutation has not been previously documented. In accordance with conventional nomenclature, the variant is designated as Hb Baise (HBA2: c.153_154insGACCTG) based on the proband's geographic origin. The carrier of Hb Baise presented with normal hematological parameters. Furthermore, the variant did not exhibit significant interference with Hb A1c quantification in this case, as evidenced by the concordance between the measured Hb A1c level and the patient's fasting blood glucose (4.51 mmol/L).