The Codon 35 (A > G) (HBB: c.107A > G) at the α-β Chain Interface of the β-Globin Gene: A Silent Mutation?

Abstract

Tyr35β is located at the convergence of the α1β1, α1β2 and α1α2 interfaces of Hb A. We here report a Chinese family in whom the codon 35 (A > G) (HBB: c.107A > G) mutation of the β-globin gene was not associated with the thalassemic phenotype previously described.

• β-globin gene
• codon 35
• mutation

Declaration of interest

This study was supported by grants from National Natural Science Foundation (81571448), People’s Republic of China. The authors report no conflicts of interest. The authors alone are responsible for the content and writing of this article.