α⁺-Thalassemia Due to a Frameshift Mutation of the α2-Globin Gene [codons 55/56 (+T) or HBA2: c.168dup]

Abstract

We report a case of α⁺-thalassemia (α⁺-thal) trait in a Chinese-Canadian family caused by a novel frameshift mutation of the α2-globin gene, specifically the duplication of a single nucleotide at amino acid codon 56 [HBA2: c.168dup]. The mutation results in substitution of a termination codon (TAA) for lysine (AAG) at amino acid position 56.

• α-Thalassemia (α-thal)
• frameshift
• point mutation

Declaration of interest

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