Case Report: ?-Spectrin Mutation Associated with ?LELY Polymorphism Responsible for Hereditary Pyropoikilocytosis

Abstract

Hereditary pyropoikilocytosis (HPP) is characterised by severe hemolytic anemia due to membrane instability. We report the case of a 13-day-old boy with neonatal jaundice and severe hemolytic anemia. A peripheral smear examination showed severe anisopoikylocytosis. DNA sequencing revealed compound double heterozygous for mutant ?-spectrin SPTA1 (Arg28His) and homozygous ?LELY polymorphism (low expression ?-spectrin allele), compatible with diagnosis of HPP.The patient required a blood transfusion initially, but spontaneously improved after two years. Our case illustrates that, despite the presence of the allele ?LELY in homozygous, the clinical phenotype is similar to cases with a mutation in SPTA1 associated with ?LELY in trans.