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Hematology Reports
Volume 14
Issue 4
10.3390/hematolrep14040043
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Case Report

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

by
María Sánchez Villalobos
1,*,
Eduardo Salido Fiérrez
1,2,
Jorge Martínez Nieto
3,
Mª Carmen García Garay
1,
Asunción Beltrán Videla
1,
Ana Belen Pérez Oliva
2,4,
Miguel Blanquer Blanquer
1,2 and
José María Moraleda Jiménez
1,2
1
Servicio de Hematología, Hospital Clínico Universitario Virgen de la Arrixaca, 30120 Murcia, Spain
2
Instituto Murciano de Investigación Biosanitaria (IMIB)-Arrixaca, 30120 Murcia, Spain
3
Servicio de Hematología, Hospital Clínico San Carlos, 28040 Madrid, Spain
4
Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), 28029 Madrid, Spain
*
Author to whom correspondence should be addressed.
Hematol. Rep. 2022, 14(4), 300-304; https://doi.org/10.3390/hematolrep14040043
Submission received: 24 June 2022 / Revised: 3 August 2022 / Accepted: 15 September 2022 / Published: 8 October 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 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.
Keywords: congenital hemolytic anemia; red blood cell membrane; pyropoikilocytosis congenital hemolytic anemia; red blood cell membrane; pyropoikilocytosis

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MDPI and ACS Style

Sánchez Villalobos, M.; Salido Fiérrez, E.; Martínez Nieto, J.; García Garay, M.C.; Beltrán Videla, A.; Pérez Oliva, A.B.; Blanquer Blanquer, M.; Moraleda Jiménez, J.M. Case Report: α-Spectrin Mutation Associated with αLELY Polymorphism Responsible for Hereditary Pyropoikilocytosis. Hematol. Rep. 2022, 14, 300-304. https://doi.org/10.3390/hematolrep14040043

AMA Style

Sánchez Villalobos M, Salido Fiérrez E, Martínez Nieto J, García Garay MC, Beltrán Videla A, Pérez Oliva AB, Blanquer Blanquer M, Moraleda Jiménez JM. Case Report: α-Spectrin Mutation Associated with αLELY Polymorphism Responsible for Hereditary Pyropoikilocytosis. Hematology Reports. 2022; 14(4):300-304. https://doi.org/10.3390/hematolrep14040043

Chicago/Turabian Style

Sánchez Villalobos, María, 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. 2022. "Case Report: α-Spectrin Mutation Associated with αLELY Polymorphism Responsible for Hereditary Pyropoikilocytosis" Hematology Reports 14, no. 4: 300-304. https://doi.org/10.3390/hematolrep14040043

APA Style

Sánchez Villalobos, M., Salido Fiérrez, E., Martínez Nieto, J., García Garay, M. C., Beltrán Videla, A., Pérez Oliva, A. B., Blanquer Blanquer, M., & Moraleda Jiménez, J. M. (2022). Case Report: α-Spectrin Mutation Associated with αLELY Polymorphism Responsible for Hereditary Pyropoikilocytosis. Hematology Reports, 14(4), 300-304. https://doi.org/10.3390/hematolrep14040043

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