HBA2: C.4delG: A Novel Frameshift Mutation Causing α+-Thalassemia Found in a Chinese Family.

Abstract

We report a novel α-thalassemia (α-thal) point mutation identified in a Chinese man with mild hypochromia and microcytosis during premarital thalassemia screening. Sanger sequencing identified a frameshift variant (HBA2:c.4delG) at codon 1 (deletion of G) in the first exon of the α2-globin gene. This genetic alteration produces a truncated α-globin chain with a premature termination codon at position 48, leading to an α⁺-thalassemia phenotype. Pedigree analysis confirmed the mutation was inherited from the paternal lineage.