• Marta Morado, Ana María Villegas, Silvia de la Iglesia, Jorge Martínez-Nieto, Rafael Del Orbe Barreto, David Beneitez, Eduardo Salido, and en representación del Grupo Español de Eritropatología.
• Servicio de Hematología y Hemoterapia, Hospital Universitario La Paz, Madrid, España. Electronic address: marta.morado@salud.madrid.org.
• Med Clin (Barc). 2021 Sep 10; 157 (5): 253.e1253.e8253.e1-253.e8.

AbstractPyruvate kinase (PK) deficiency is the second most frequent enzymopathy and the most common cause of chronic hereditary non-spherocytic haemolytic anaemia. Its global prevalence is underestimated due to low clinical suspicion of mild cases, associated with difficulties in the performance and interpretation of PK enzymatic activity assays. With the advent of next generation sequencing techniques, a better diagnostic approach is achieved. Treatment remains based on red blood cell transfusions and splenectomy, with special attention to iron overload, not only in transfusion-dependent patients. Nowadays, allogeneic hematopoietic stem cell transplantation is the only curative treatment, recommended only in selected cases of severely affected patients with an HLA-identical donor. Novel pharmacological and gene therapies are in clinical trials, with promising results. In this article, the Spanish Erythropathology Group reviews the current situation of PK deficiency, paying special attention to the usefulness of different diagnostic techniques and to actual and emerging treatments.Copyright © 2020 Elsevier España, S.L.U. All rights reserved.

23 keywords...

hide…