Pyruvate kinase deficiency results in a glycolytic defect in red blood cells.
Clinical and laboratory features:
(1) family history of a hemolytic anemia with autosomal recessive pattern of inheritance
(2) congenital nonspherocytic hemolytic anemia
(3) perinatal anemia with hydrops and hyperbilirubinemia
(4) need for blood transfusions which may be reduced after splenectomy
Laboratory manifestations of hemolytic anemia and iron overload:
(1) anemia
(2) elevated serum LDH
(3) elevated serum total and indirect bilirubin
(4) elevated serum ferritin
Complications:
(1) early onset of cholelithiasis
(2) iron overload from blood transfusions
(3) osteopenia
(4) leg ulcers
(5) pulmonary hypertension
(6) aplastic crises
(7) postsplenectomy sepsis
(8) postsplenectomy thrombosis
(9) extramedullary hematopoiesis
