A Novel α-Thalassemia Frameshift Mutation: Codon 8 (–C)

Abstract

We report a novel α-thalassemia (α-thal) point mutation detected during newborn screening for hemoglobinopathies. Sequence analyses identified a frameshift mutation at codon 8 (–C) in exon 1 of the α2-globin gene. This mutation causes an α⁺-thal phenotype.

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