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Keywords = pyropoikilocytosis

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5 pages, 1270 KiB  
Case Report
Case Report: α-Spectrin Mutation Associated with αLELY Polymorphism Responsible for Hereditary Pyropoikilocytosis
by María Sánchez Villalobos, Eduardo Salido Fiérrez, Jorge Martínez Nieto, Mª Carmen García Garay, Asunción Beltrán Videla, Ana Belen Pérez Oliva, Miguel Blanquer Blanquer and José María Moraleda Jiménez
Hematol. Rep. 2022, 14(4), 300-304; https://doi.org/10.3390/hematolrep14040043 - 8 Oct 2022
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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 [...] Read more.
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. Full article
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