Characterization of a novel HBB:c.194dup variant of the β-globin gene combined with six alpha genes. Issue 5 (May 2022)

• Record Type: Journal Article
• Authors: Huang, Jungao; Ding, Le; Chen, Junkun; Chen, Shiping; Tian, Peirun; Xie, Jun; Huang, Xiaoyan; Xin, Xiaoqin
• Is Part Of: Journal of international medical research. Volume 50:Issue 5(2022)
• Publication Date: 2022-05
• Subjects: Novel variant -- next-generation sequencing -- alpha triplication -- β globin gene -- β-thalassemia -- anemia; Medicine -- Periodicals; Pharmacology -- Periodicals; 610.5
• DOI: 10.1177/03000605221099013
• Languages: English
• ISSNs: 0300-0605

Abstract

Β-thalassemia (β-thal) is one of the most prevalent inherited blood disorders in Ganzhou, south China. Next-generation sequencing was used to screen for thalassemia carriers in the general population. During the screening, we identified a novel β-thal variant in a 46-year-old Chinese man, which was validated by Sanger sequencing. Based on the patient's clinical data, this novel mutation was classified as severe β 0 . However, the patient was mildly anemic (hemoglobin, 89 g/L), which was inconsistent with typical β 0 carrier characteristics. On further evaluation, quantitative PCR indicated the presence of six α genes, while molecular analysis and pedigree analysis revealed the coexistence of ααα anti3.7 and ααα anti4.2 . Therefore, we report a novel β-thal variant combined with six α genes. We describe the patient's clinical phenotype and the process of molecular diagnosis. This case extends the spectrum of thalassemia variants.