A Novel Indian β-Thalassemia Mutation: Hb Lucknow [β8(A5)Lys→Arg]

Abstract

This paper reports a new A→G base substitution identified in exon 1 of the β-globin gene at codon 8, which we have designated Hb Lucknow [β8(A5)Lys→Arg] after the place of residence of the proband. This nucleotide change is associated with the IVS-I-5 (G→C) mutation and is speculated to produce a thalassemia intermedia phenotype in the subject.