Hb Évora [α2-35 (B16), Ser→Pro], a novel hemoglobin variant associated with an α-thalassemia phenotype

Abstract

We report a novel mutation in the α2-globin gene, codon 35 (T→C), detected in two unrelated Portuguese families. This mutation gives rise to a previously undescribed hemoglobin (Hb) variant, which we named Hb Évora. This variant seems to be responsible for the α-thalassemia phenotype present in its carriers. It cannot be detected by conventional laboratory techniques, probably because of its highly unstable nature.