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Residual pyruvate kinase activity in PKLR‐deficient erythroid precursors of a patient suffering from severe haemolytic anaemia

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Here, we present a 7‐year‐old patient suffering from severe haemolytic anaemia. The most common cause of chronic hereditary non‐spherocytic haemolytic anaemia is red blood cell pyruvate kinase (PK‐R) deficiency. Because red blood cells rely solely on glycolysis to generate ATP, PK‐R deficiency can severely impact energy supply and cause reduction in red blood cell lifespan. We determined the underlying cause of the anaemia and investigated how erythroid precursors in the patient survive.
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Keywords: PKM2; PK‐R; pyruvate kinase deficiency; red blood cell; reticulocyte

Document Type: Research Article

Publication date: June 1, 2017

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