α⁺-Thalassemia Trait Caused by a Frameshift Mutation in Exon 2 of the α2-Globin Gene [HBA2 c.244delT]

Abstract

We report a case of α⁺-thalassemia (α⁺-thal) trait caused by a novel frameshift mutation in exon 2 of the α2-globin gene, specifically a deletion of a single nucleotide at amino acid codon 81 [HBA2 c.244delT]. The mutation results in a premature termination of translation at codon 83.

• α-Thalassemia (α-thal)
• Point mutation
• Frameshift