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

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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Bibliographic Details
Main Authors: Joan-Lluis Vives Corrons, Elena Krishnevskaya, Laura Montllor, Valentina Leguizamon, Marta Garcia Bernal
Format: Article
Language:English
Published: MDPI AG 2022-03-01
Series:Cells
Subjects:
anemia
hemolysis
RBC membrane
pyruvate-kinase deficiency
beta-spectrin
hereditary spherocytosis
Online Access:https://www.mdpi.com/2073-4409/11/7/1133

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