Novel Mutation of the Translation Initiation Codon of the α1-Globin Gene (ATG>AAG or HBA1:c.2T>A)

Abstract

We report two Italian–Canadian families with α⁺-thalassemia (α⁺-thal) trait caused by a novel mutation of the translation initiation codon of the α1-globin gene (ATG>AAG or HBA1:c.2T>A). This is the tenth reported α-thal mutation involving the translation initiation codon or the conserved Kozak consensus sequences of the HBA2 or HBA1 genes.

Keywords:

• α-Thalassemia (α-thal)
• HBA1 gene
• initiation codon
• point mutations

Disclosure statement

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