Pyruvate kinase deficiency: A case series of congenital non-spherocytic hemolytic anemia

Abstract

BackgroundPyruvate kinase deficiency (PKD) is a common cause of congenital non-spherocytic hemolytic anemia (CNSHA). The heterogeneity of clinical presentation complicates the diagnosis and management of this disease. The objective was to describe the clinical, laboratory, and genetic profile of pediatric patients with PKD. Material and methodsIt was a retrospective, observational study. Children and their family members presenting to the Department of Pediatric Hematology and Oncology, St John's Medical College Hospital Bangalore, India, and diagnosed with PKD during 2011–2023 were enrolled. ResultsEight patients were identified through retrospective chart reviews. Four cases were clustered in one family and affected twins in the second family. All patients had a history of neonatal jaundice; however, they varied in their severity and the requirement for transfusion support. Some patients underwent splenectomy and one had hematopoietic stem cell transplant. ConclusionPKD is a known cause of congenital non-spherocytic hemolytic anemia with heterogeneous presentation. A high index of suspicion, enzyme assay, and genetic studies are required for diagnosis.