A New Frameshift Mutation on the α2-Globin Gene Causing α⁺-Thalassemia: Codon 43 (TTC>–TC or TTC>T–C)

Abstract

We report a new mutation on the α2-globin gene causing α⁺-thalassemia (α⁺-thal) with a deletion of a single nucleotide (T) at amino acid residue 43 [HBA2:c.130delT or HBA2:c.131delT]. This frameshift deletion gives rise to a premature termination codon at codon 47.

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