A Novel Hemoglobin Variant, Hb Hefei [CD113(GTG > GGG)(Val > Gly); HBB :c.341T > G], Was Detected by Matrix-Assisted Laser Desorption/Ionization Time-of-Flight Mass Spectrometry

We report a novel hemoglobin (Hb) variant detected by matrix-assisted laser desorption/ionization time-of-flight mass spectrometry (MALDI-TOF MS). A 57-year-old female patient underwent a routine physical examination at our hospital. Her HbA1c results showed significant discrepancies among capillary electrophoresis (CE), high-performance liquid chromatography (HPLC), and boric acid affinity chromatography (BAC). CE yielded an HbA1c of 5.12%, whereas both HPLC and BAC produced significantly higher values (HPLC: 5.8–6.3%; BAC: 5.96%). Neither the chromatograms nor the electropherogram showed any abnormalities. MALDI-TOF MS identified a variant β-globin chain with a mass-to-charge ratio (m/z) of 15,826 Da. Sanger sequencing revealed a novel heterozygous missense mutation in the HBB gene [CD113(GTG > GGG)(Val > Gly); c.341T > G]. We named it Hb Hefei after the proband’s birthplace.