Identification of Two Novel Thalassemia Variants, HBA1: c.263delA and HBA2: c.376dupC, in Chinese Individuals

Abstract

We detected a novel frameshift variant (HBA1: c.263delA) and – –^SEA (Southeast Asian), deletion in a 28-year-old Chinese woman with α-thalassemia (α-thal). This novel variant (a single nucleotide deletion at nucleotide 263 of codon 87) was detected by targeted next generation sequencing (NSG), resulting in a stop codon at amino acid 102 in exon 2 of the HBA1 gene. We also identified a novel heterozygous insertion (HBA2: c.376dupC) in a 24-year-old Chinese woman through screening for thalassemia. These two novel variants have expanded the mutation spectrum of α-thal and it would be beneficial for carrier screening, genetic counseling and prenatal diagnosis (PND) of α-thal.

Keywords:

• α-Globin gene
• α-thalassemia (α-thal)
• novel variants

Acknowledgements

The authors thank all the blood donors for their invaluable contribution to this study.

Disclosure statement

The authors report no conflicts of interest. The authors alone are responsible for the content and writing of this article.