A Novel β⁰-Thalassemia Frameshift Mutation: [HBB:c.216delT]

Abstract

A 33-year-old adult male of Greek ethnicity, with hematological indices suggesting β⁰-thalassemia (β⁰-thal) trait, was investigated for HBB gene mutations in the course of preparation for preimplantation genetic diagnosis (PGD). Application of a routine diagnostic protocol, consisting of sequence analysis of the HBB gene, coupled to multiplex ligation-dependent probe amplification (MLPA), identified a single nucleotide deletion (–T) at codon 72 [HBB: c.216delT], leading to a novel pathogenic frameshift and protein-truncating β⁰-thal mutation (p.Phe72LeufsX18).

• β⁰-Thalassemia (β⁰-thal)
• Frameshift mutation
• Truncating mutation