A Novel Beta(0)-Thalassemia Mutation, Hbb: C.356_357deltt [Codon 118 (-Tt)] In An Iraqi Kurd

We report a novel frameshift beta-thalassemia (beta-thal) mutation due to a two-nucleotide deletion at codon 118 of the beta-globin gene (HBB: c.356_357delTT) in a 4-year-old Iraqi Kurd female presenting as transfusion-dependent beta-thal. This frameshift mutation, unlike many others involving the third exon, behaved as a recessive beta(0) defect and not as dominant beta-thal mutation.