Pyruvate Kinase Deficiency

Pyruvate kinase (PK) deficiency is one of the most common enzymatic defects of the RBCs, it manifests clinically as a hemolytic anemia that can range from mild to severe. Pyruvate kinase (PK) deficiency is inherited in an autosomal recessive pattern. The birth history of patients with pyruvate kinase deficiency includes severe anemia, severe jaundice, kernicterus, and a history of exchange transfusion. […]

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G6PD Deficiency

Introduction: Glucose 6 phosphate dehydrogenase (G6PD) deficiency affects approximately 400 million individuals worldwide. It is the most common human enzyme defect. The global distribution of this disorder is remarkably similar to that of malaria, lending support to the so-called malaria protection hypothesis. It is common in Africa, around the Mediterranean, and in the Orient. G6PD deficiency is an X-linked recessive disorder. The hereditary genetic […]

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