Case Report: α-Spectrin Mutation Associated with αLELY Polymorphism Responsible for Hereditary Pyropoikilocytosis

Author:

Sánchez Villalobos María,Salido Fiérrez Eduardo,Martínez Nieto Jorge,García Garay Mª Carmen,Beltrán Videla Asunción,Pérez Oliva Ana BelenORCID,Blanquer Blanquer MiguelORCID,Moraleda Jiménez José María

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

Publisher

MDPI AG

Subject

Hematology

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