Pyruvate kinase (PK) deficiency is the most common cause of congenital non-spherocytic chronic hemolytic anemia. It is an autosomal recessive condition caused by a deficiency of erythrocytic PK. The mechanism for hemolysis in PK deficiency is not clear.
●The severity of hemolysis in PK-deficient patients is highly variable, ranging from a life-threatening transfusion-requiring hemolytic anemia present since birth to a fully compensated hemolytic process.
Laboratory tests are consistent with the presence of extravascular hemolysis with a brisk reticulocyte response.
●Assay of erythrocytic PK enzymatic activity or genetic testing for a relevant PK gene mutation is required for making a specific diagnosis.
●Treatment of PK deficiency depends upon the time when the disorder becomes evident.
•Intrauterine transfusion is indicated in affected fetuses with severe anemia and fetal hydrops.
•Phototherapy with or without exchange transfusion is indicated for severe hyperbilirubinemia during the neonatal period.
•In patients requiring chronic or intermittent transfusions, clinically significant iron overload is frequent and chelation therapy may be necessary.
•As a general precaution, oral folic acid supplementation (1 mg/day) should be given prophylactically to avoid the development of folic acid deficiency.
•No treatment is needed if hemolysis is fully compensated (ie, minimal or no anemia) in infants and adults. In those with severe, symptomatic anemia, splenectomy is an option for reducing symptoms and the frequency of red cell transfusions.
•In patients with extremely severe disease who have not benefitted from splenectomy, hematopoietic cell transplantation is an option
Dr Niranjan Rathod DM, MD, FACP
Hematologist & Bone marrow transplant physician
M-9930767546
●The severity of hemolysis in PK-deficient patients is highly variable, ranging from a life-threatening transfusion-requiring hemolytic anemia present since birth to a fully compensated hemolytic process.
Laboratory tests are consistent with the presence of extravascular hemolysis with a brisk reticulocyte response.
●Assay of erythrocytic PK enzymatic activity or genetic testing for a relevant PK gene mutation is required for making a specific diagnosis.
●Treatment of PK deficiency depends upon the time when the disorder becomes evident.
•Intrauterine transfusion is indicated in affected fetuses with severe anemia and fetal hydrops.
•Phototherapy with or without exchange transfusion is indicated for severe hyperbilirubinemia during the neonatal period.
•In patients requiring chronic or intermittent transfusions, clinically significant iron overload is frequent and chelation therapy may be necessary.
•As a general precaution, oral folic acid supplementation (1 mg/day) should be given prophylactically to avoid the development of folic acid deficiency.
•No treatment is needed if hemolysis is fully compensated (ie, minimal or no anemia) in infants and adults. In those with severe, symptomatic anemia, splenectomy is an option for reducing symptoms and the frequency of red cell transfusions.
•In patients with extremely severe disease who have not benefitted from splenectomy, hematopoietic cell transplantation is an option
Dr Niranjan Rathod DM, MD, FACP
Hematologist & Bone marrow transplant physician
M-9930767546
