A New Hemoglobin Variant: Hb Tangshan [ HBA1 : c.239C > T, CD79(GCG > GTG)(Ala > Val)] Detected by MALDI-TOF MS

• Published in: Hemoglobin Vol. 47; no. 5; pp. 202 - 204
• Main Authors: Xu, Anping, Ge, Song, Huang, Yueying, Xie, Weijie, Ye, Yinghui, Lin, Cheng, Ji, Ling
• Format: Journal Article
• Language: English
• Published: England 03.09.2023
• Subjects: Chromatography, High Pressure Liquid; Electrophoresis, Capillary; Glycated Hemoglobin - genetics; Hemoglobins, Abnormal - analysis; Hemoglobins, Abnormal - genetics; Humans; Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization; Valine - genetics; Hb A1c; MALDI-TOF MS; Hb Tangshan (HBA1: c.239C > T)
• ISSN: 0363-0269; 1532-432X
• DOI: 10.1080/03630269.2023.2277445

In this report we decribed a new α-chain variant found during the measurement of hemoglobin A (Hb A ) using matrix-assisted laser desorption ionization-time of flight (MALDI-TOF) mass spectrometry (MS). MALDI-TOF MS analysis detected an α-chain variant with a mass of 15,155 Da. However, this Hb variant was not detected during Hb A measurement by cation-exchange high-performance liquid chromatography (HPLC) and capillary electrophoresis (CE) methods. Sanger sequencing validated the presence of a heterozygous missense mutation [ : c.239C > T, CD79(GCG > GTG)(Ala > Val)]. The observed 28 Da mass difference exactly matches the theoretical mass difference (28 Da) resulting from the substitution of alanine (89.079) with valine (117.133). As this represents the initial documentation of the mutation, we named it Hb Tangshan after the proband's residence.