Case Report: α-Spectrin Mutation Associated with αLELY 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 d...

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Detalles Bibliográficos
Autores principales: Sánchez Villalobos, María, Salido Fiérrez, Eduardo, Martínez Nieto, Jorge, García Garay, Mª Carmen, Beltrán Videla, Asunción, Pérez Oliva, Ana Belen, Blanquer Blanquer, Miguel, Moraleda Jiménez, José María
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9589974/
https://www.ncbi.nlm.nih.gov/pubmed/36278520
http://dx.doi.org/10.3390/hematolrep14040043

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9589974/
https://www.ncbi.nlm.nih.gov/pubmed/36278520
http://dx.doi.org/10.3390/hematolrep14040043

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