Identification of a Novel Mutation in the 3′ Untranslated Region of the β-Globin Gene (HBB:c.*132C>G) in a Chinese Family

Abstract

We describe a new β-globin mutation causing silent β-thalassemia (β-thal). The proband was a 5-year-old boy who presented with the phenotype of thalassemia intermedia. Molecular diagnoses revealed a genomic alteration at position 1606 of the HBB gene (HBB:c.*132C>G) in combination with a common β⁰-thal mutation (HBB:c.126_129delCTTT). The 3′-untranslated region (UTR) mutation was inherited from his father who showed a normal mean corpuscular volume (MCV) and Hb A₂ level. The discovery of rare mutations provides important information related to both genetic counseling for families involved.

Keywords:

• HBB
• 3′-untranslated region (UTR)
• β-thalassemia (β-thal)
• mutation
• intermedia

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 work was supported by the Provincial Department of Science and Technology Agency of Guangdong [2021A1515220088], Guangdong Province, People’s Republic of China.