Beta-thalassemia in the indigenous population of Brittany: identification of three rare mutations

Abstract

Beta-thalassemia mutations were determined in ten Breton probands using a reverse-hybridization method or denaturing gradient gel electrophoresis and sequencing. Six different mutations were found: three from the Mediterranean area and three rare. Mutations responsible for beta-thalassemia in Brittany are quite heterogeneous. The mutation in the initiation codon ATG-->ACG was found in four families and may result from an ancient founder effect, as suggested by the haplotype analysis.