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

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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Bibliographic Details
Main Authors: María Sánchez Villalobos, Eduardo Salido Fiérrez, Jorge Martínez Nieto, Mª Carmen García Garay, Asunción Beltrán Videla, Ana Belen Pérez Oliva, Miguel Blanquer Blanquer, José María Moraleda Jiménez
Format: Article
Language:English
Published: MDPI AG 2022-10-01
Series:Hematology Reports
Subjects:
congenital hemolytic anemia
red blood cell membrane
pyropoikilocytosis
Online Access:https://www.mdpi.com/2038-8330/14/4/43

Internet

https://www.mdpi.com/2038-8330/14/4/43

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