Real-World Impact of Pyruvate Kinase Deficiency in Children

Abstract

Pyruvate kinase (PK) deficiency is a hereditary haemolytic anaemia caused by mutations in the PKLR gene encoding PK, which is critical for maintaining red blood cell (RBC) energy levels. Defects in PK cause chronic haemolysis. There are currently no disease-modifying therapies approved for use in children with PK deficiency, and treatment can involve regular blood transfusions, iron chelation, splenectomy, and management of disease complications. In this interview, Rachael F. Grace, a paediatric haematologist at the Dana–Farber/Boston Children's Cancer and Blood Disorders Center, Massachusetts, USA; and Julián Sevilla, a haematologist at the Hospital Infantil Universitario Niño Jesús in Madrid, Spain, shared their experience of diagnosing and treating paediatric patients with PK deficiency. They discussed the substantial variability in symptoms between patients irrespective of their haemoglobin level, the risk of iron overload even in children not receiving regular transfusions, and the effects of jaundice on children’s self-esteem. Grace and Sevilla also examined the challenges in diagnosis and management of PK deficiency in paediatrics, and the importance of regular monitoring in all patients, both to identify potential complications, and to ensure optimal medical management of their disease. Finally, they discussed new therapies that are currently being developed, which have the potential to have a major impact on future treatments for paediatric patients with PK deficiency.