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

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 alpha-spectrin SPTA1 (Arg28His) and homozygous alpha LELY polymorphism (low expression alpha-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 alpha LELY in homozygous, the clinical phenotype is similar to cases with a mutation in SPTA1 associated with alpha LELY in trans.