Pyruvate kinase deficiency is a genetic disorder. It affects red blood cells in the body. Patients are affected by a condition called chronic hemolytic anemia, which is where red blood cells undergo hemolysis before they are meant to which causes anemia in the patient. Symptoms of this condition can include jaundice, fatigue, dyspnea and splenomegaly. Gallstones are also common to patients with this disorder. This disorder is diagnosed through genetic testing. In mild cases, no treatment is required. Patients with more severe cases may require blood transfusions, and occasionally the spleen is removed to aid with the reduction of red blood cell destruction.
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