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A novel β(0)-thalassemia frameshift mutation: [HBB:c.216delT]

Christopher Konialis¹, Birgitta Hagnefelt, Sophia Sevastidou

¹Department of Molecular Genetics, InterGenetics, Diagnostic Genetics Centre, Athens, Greece. genetic@ath.forthnet.gr

|October 31, 2012

Abstract:

A 33-year-old adult male of Greek ethnicity, with hematological indices suggesting β(0)-thalassemia (β(0)-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 β(0)-thal mutation (p.Phe72LeufsX18).

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