Case report: Modified transplantation for pediatric patients with pyruvate kinase deficiency

Pyruvate kinase deficiency (PKD) is a rare autosomal recessive disorder caused by mutations in the PKLR gene. Its clinical presentation is highly variable, ranging from fetal anemia and neonatal jaundice to severe chronic hemolytic anemia or compensated hemolysis. Although successful cases of allogeneic hematopoietic stem cell transplantation (allo-HSCT) for PKD have been reported, they remain few, with limited clinical experience. Here, we present two successful cases using a modified conditioning regimen, demonstrating its suitability for patients with severe transfusion dependence. Our findings support allo-HSCT as a viable, safe, and effective curative option for transfusion-dependent PKD patients, potentially eliminating the need for ongoing treatments such as Mitapivat or gene therapy and enabling a return to normal life.