Article
Residual pyruvate kinase activity in PKLR-deficient erythroid precursors of a patient suffering from severe haemolytic anaemia.
European journal of haematology - 1 Jun 2017
Klei Thomas R L, Kheradmand Kia Sima, Veldthuis Martijn, Beuger Boukje M, Geissler Judy, Dehbozorgian Javad, Karimi Mehran, van Bruggen Robin, van Zwieten Rob
Abstract excerpt
OBJECTIVE: 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...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.