A Novel Hemoglobin Variant Hb Liaobu [α107(G14)ValâLeu, HBA2: c.322G>C] Detected by Matrix-Assisted Laser Desorption Ionization-Time-of-Flight Mass Spectrometry.
Hemoglobin
; 45(5): 341-344, 2021 Sep.
Article
em En
| MEDLINE
| ID: mdl-35322741
ABSTRACT
We here describe a novel hemoglobin (Hb) variant, Hb Liaobu [α107(G14)ValâLeu, HBA2 c.322G>C], in a Chinese family. The structurally abnormal α 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 α2-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.
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MEDLINE
Assunto principal:
Hemoglobinas Anormais
Idioma:
En
Ano de publicação:
2021
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Article