Hb Utrecht [α2 129(H12)Leu→Pro], a new unstable α2-chain variant associated with a mild α-thalassaemic phenotype

Abstract

We describe a new α2-globin gene point mutation found in six individuals of a three-generation Dutch family. The mutant, which is associated with a mild α-thalassaemic phenotype, is not detectable at the protein level. The α2 cd129 (CTG→CCG) transition was found by molecular analysis using denaturing gradient gel electrophoresis (DGGE) and single-strand conformation analysis (SSCA) followed by direct sequencing of the α2-globin gene. Southern analysis revealed a triplication of the ζ-gene in cis with the mutant α-globin gene.