Characterization of a novel HBB:c.194dup variant of the -globin gene combined with six alpha genes

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.