A Frameshift at Codons 77/78 (–C): A Novel β‐Thalassemia Mutation

Abstract

We identified and characterized a novel β‐thalassemia (β‐thal) mutation due to a deletion of cytosine at codons 77/78 (–C) [CAC(His) CA– or CTG(Leu)→–TG] found in a heterozygous state in four members of a Mexican family. The β haplotype analysis performed on the family revealed that the frameshift at codons 77/78 (–C) mutation in this family is associated with haplotype V [– + – – – +] and framework 2. Ten β‐thal alleles with a cytosine deletion are described at the Globin Gene Server, two of which are very near codon 77. The molecular pathology of β‐thal in the Mexican population has been shown to be heterogeneous, because some Mediterranean, Asian, private and rare alleles have been observed, a similar fact as has been observed in populations with a low frequency of β‐thal.

• β‐thalassemia (β‐thal)
• Globin haplotype
• Frameshift codon(s) (FSC)
• Mexican