Concomitant Hereditary Spherocytosis and Pyruvate Kinase Deficiency in a Spanish Family with Chronic Hemolytic Anemia: Contribution of Laser Ektacytometry to Clinical Diagnosis

Background: Hereditary spherocytosis (HS) and pyruvate kinase deficiency (PKD) are the most common causes of hereditary chronic hemolytic anemia. Here, we describe clinical and genetic characteristics of a Spanish family with concomitant β-spectrin (SPTB) c.647G>A variant and pyruvate kinase (PKL...

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Detalles Bibliográficos
Autores principales: Vives Corrons, Joan-Lluis, Krishnevskaya, Elena, Montllor, Laura, Leguizamon, Valentina, Garcia Bernal, Marta
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8997718/
https://www.ncbi.nlm.nih.gov/pubmed/35406697
http://dx.doi.org/10.3390/cells11071133

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8997718/
https://www.ncbi.nlm.nih.gov/pubmed/35406697
http://dx.doi.org/10.3390/cells11071133

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