Case Report: Successful hematopoietic stem cell transplantation in pediatric pyruvate kinase deficiency: a single-center Asian case series demonstrating favorable outcomes
Pyruvate kinase deficiency (PKD) is a rare autosomal recessive inherited hemolytic anemia caused by pathogenic variants in the PKLR gene. The disease exhibits marked clinical heterogeneity, ranging from compensated anemia to severe transfusion-dependen…