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

Article Biochemistry & Molecular Biology

Hb Huadu [α124(H7)Ser→Thr (TCC>ACC), HBA2: c.373T>A]: A Novel Variant of the α-Globin Gene

Ai-Ping Ju et al.

Summary: This report presents a novel alpha chain hemoglobin variant discovered through thalassemia screening, which can be detected by capillary electrophoresis but not by high performance liquid chromatography. Sanger sequencing revealed a heterozygous missense substitution on the HBA2 gene, and the proband also inherited another heterozygous variant on the beta-globin gene.

HEMOGLOBIN (2022)

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Article Pathology

A Comparative Evaluation of Capillary Electrophoresis, Cation-Exchange High-Performance Liquid Chromatography, and Matrix-Assisted Laser Desorption/Ionization Time-of-Flight Mass Spectrometry for the Screening of Hemoglobin Variants

Miao Xu et al.

Summary: Capillary electrophoresis (CE) showed the highest accuracy in screening for Hb variants in southern China, detecting all of the top ten common variants. MALDI-TOF MS is suitable for use as an auxiliary method rather than a stand-alone method.

AMERICAN JOURNAL OF CLINICAL PATHOLOGY (2021)

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Article Biochemistry & Molecular Biology