A Novel Hemoglobin Variant Hb Liaobu [alpha 107(G14)Val -> Leu, HBA2: c.322G > C] Detected by Matrix-Assisted Laser Desorption Ionization-Time-of-Flight Mass Spectrometry

We here describe a novel hemoglobin (Hb) variant, Hb Liaobu [alpha 107(G14)Val -> Leu, HBA2: c.322G>C], in a Chinese family. The structurally abnormal alpha chain variant could not be detected using capillary electrophoresis (CE) and was subsequently characterized by matrix-assisted laser desorption ionization-time of flight (MALDI-TOF) mass spectrometry (MS), and further confirmed by reversed phase high performance liquid chromatography (HPLC). Sanger sequencing revealed a novel base mutation on the alpha 2-globin gene and RNA analysis by reverse transcription polymerase chain reaction (RT-PCR) showed the presence of an abnormal HBA transcript. The isopropanol stability test indicated the stable state of this structural Hb variant. In conclusion, a new Hb variant, Hb Liaobu, was discovered and characterized. It was proven to be a nonpathogenic variant. Our study resolved the confusion in the clinical diagnosis of individuals with this novel Hb variant in this family.