Rachael F Grace, Eduard J van Beers, Joan-Lluis Vives Corrons, Bertil Glader, Andreas Glenthøj, Hitoshi Kanno, Kevin H M Kuo, Carl Lander, D Mark Layton, Dagmar Pospíŝilová, Vip Viprakasit, Junlong Li, Yan Yan, Audra N Boscoe, Chris Bowden, Paola Bianchi
INTRODUCTION: Pyruvate kinase (PK) deficiency is a rare, under-recognised, hereditary condition that leads to chronic haemolytic anaemia and potentially serious secondary complications, such as iron overload, cholecystitis, pulmonary hypertension and extramedullary haematopoiesis. It is an autosomal recessive disease caused by homozygous or compound heterozygous mutations in the PKLR gene. Due to its rarity and clinical heterogeneity, information on the natural history and long-term clinical course of PK deficiency is limited, presenting major challenges to patient management, the development of new therapies and establishing disease-specific treatment recommendations...
March 23, 2023: BMJ Open