congenital nonspherocytic hemolytic anemia 2

A congenital nonspherocytic hemolytic anemia that has_material_basis_in homozygous or compound heterozygous mutation in the PKLR gene on chromosome 1q22.

Signs and symptoms

• Decreased circulating haptoglobin concentration
• Decreased hemoglobin concentration
• Pallor
• Chronic hemolytic anemia
• Hepatomegaly
• Erythroid hyperplasia
• Reticulocytosis
• Splenomegaly
• Jaundice
• Reduced red cell pyruvate kinase level

Also known as: PK deficiency; Red cell pyruvate kinase deficiency; hemolytic anemia due to red cell pyruvate kinase deficiency; pyruvate kinase deficiency of erythrocyte; pyruvate kinase deficiency of red cells