A Hemoglobin Variant, Resulting from a Novel Missense Mutation [CD 112(G14) Cys > Ser (TGT > TCT); HBB: C.338G > C], Was Discovered by MALDI-TOF MS.

Abstract

Here we report a hemoglobin (Hb) variant, initially detected by matrix-assisted laser desorption ionisation-time of flight mass spectrometry (MALDI-TOF MS). A 29-year-old woman who presented to our hospital for a medical examination showed a remarkable discrepancy between her fasting plasma glucose level (5.07 mmol/L) and her HbA_1c value (3.61%), as determined by capillary electrophoresis (CE). Hemoglobin analysis by MALDI TOF MS revealed an abnormal globin with a mass of 15853 Da. Sanger sequencing identified a novel missense mutation in exon 112 of the β-globin chain [CD 112(G14) Cys > Ser (TGT > TCT); HBB:c.338G > C]. In reference to the birthplace of the proband, this variant was named Hb Jiangxi.