Hematology (Amsterdam, Netherlands) · 2026
First report of a rare hemoglobin variant in the Chinese population: clinical and hematological characteristics of Hb Norton [HBA2:c.217C>G] and its impact on HbA1c testing: a case report.
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Shang Jian, Cao Zirui, Chen Weidong, Yang Huijun
Аннотация
OBJECTIVES: Hemoglobin (Hb) variants are a common type of single-gene disorder and a frequent source of interference in HbA1c testing. Here, we first report a rare Hb variant, Hb Norton [HBA2:c.217C>G], in the Chinese population.
METHODS AND RESULTS: A 38-year-old man presented with a normal clinical and hematological phenotype. He was suspected of carrying an Hb variant following an HbA1c measurement using a high-performance liquid chromatography (HPLC) method (Bio-Rad D100), which resulted in an extremely high value of 20.24%. HbA1c was reanalyzed using a capillary electrophoresis (CE) method (Capillarys3 TERA) and a boronate affinity HPLC system (Premier Hb9210), and the results were 5.49% and 5.60%, respectively. Hemoglobin analysis by CE and matrix-assisted laser desorption ionization-time of flight (MALDI-TOF) mass spectrometry (MS) revealed a variant peak with a mass-to-charge ratio (m/z) = 10105 Da. Sanger sequencing confirmed the presence of a rare Hb variant, Hb Norton [HBA2:c.217C>G]. It was conclusively confirmed that the co-elution of Hb Norton and HbA1c components led to the falsely elevated HbA1c values.
CONCLUSIONS: Some rare variants can severely affect HbA1c analysis. When encountering abnormally high values that are difficult to explain, one should consider whether variant interference is present.
METHODS AND RESULTS: A 38-year-old man presented with a normal clinical and hematological phenotype. He was suspected of carrying an Hb variant following an HbA1c measurement using a high-performance liquid chromatography (HPLC) method (Bio-Rad D100), which resulted in an extremely high value of 20.24%. HbA1c was reanalyzed using a capillary electrophoresis (CE) method (Capillarys3 TERA) and a boronate affinity HPLC system (Premier Hb9210), and the results were 5.49% and 5.60%, respectively. Hemoglobin analysis by CE and matrix-assisted laser desorption ionization-time of flight (MALDI-TOF) mass spectrometry (MS) revealed a variant peak with a mass-to-charge ratio (m/z) = 10105 Da. Sanger sequencing confirmed the presence of a rare Hb variant, Hb Norton [HBA2:c.217C>G]. It was conclusively confirmed that the co-elution of Hb Norton and HbA1c components led to the falsely elevated HbA1c values.
CONCLUSIONS: Some rare variants can severely affect HbA1c analysis. When encountering abnormally high values that are difficult to explain, one should consider whether variant interference is present.