A Novel Mutation at HBA1: c.349G>T Causing α-Thalassemia in a Chinese Family

Abstract

α-Thalassemia (α-thal) is one of the most common genetic diseases in Southern China. Although more than 300 α-thal mutations have been reported in the world, the mutation spectrum is still not comprehensive. In this study, a novel mutation (HBA1: c.349G>T) in a newborn (proband) was first found by next-generation sequencing (NGS). Subsequently, hematological analysis and thalassemia genetic testing were performed for the family members. The results showed that both the proband and her mother were heterozygotes for this novel mutation and presented abnormal hematological indices. Based on the features observed in clinical practice, this novel mutation was considered as a type of α-thal variation.

Keywords:

• α-Thalassemia (α-thal)
• HBA1 gene
• novel variant

Disclosure statement

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

Additional information

Funding

This study was supported by Shenzhen Engineering Laboratory for Innovative Molecular Diagnostics [DRC-SZ[2016]884] and Science, Technology and Innovation Commission of Shenzhen Municipality under grant No. KJYY20170412153606214.