title: Congenital Hemolytic Anemia.
abstract: Red blood cell (RBC) destruction can be secondary to intrinsic disorders of the RBC or to extrinsic causes. In the congenital hemolytic anemias, intrinsic RBC enzyme, RBC membrane, and hemoglobin disorders result in hemolysis. The typical clinical presentation is a patient with pallor, anemia, jaundice, and often splenomegaly. The laboratory features include anemia, hyperbilirubinemia, and reticulocytosis. For some congenital hemolytic anemias, splenectomy is curative. However, in other diseases, avoidance of drugs and toxins is the best therapy. Supportive care with transfusions are also mainstays of therapy. Chronic hemolysis often results in the formation of gallstones, and cholecystectomy is often indicated.
authors.affiliation: Department of Pediatrics, Division of Pediatric Hematology/Oncology, Oregon Health & Science University, 3181 Southwest Sam Jackson Park Road, Mail Code CDRCP, Portland, OR 97239, USA. Electronic address: haley@ohsu.edu.
authors.forename: Kristina
authors.initials: K
authors.lastname: Haley
mesh_terms: D000745:Anemia, Hemolytic, Congenital / Q000175:diagnosis / Q000503:physiopathology* / Q000628:therapy*; D000746:Anemia, Hemolytic, Congenital Nonspherocytic / Q000175:diagnosis / Q000628:therapy; D004910:Erythrocyte Membrane / Q000378:metabolism; D005955:Glucosephosphate Dehydrogenase Deficiency / Q000175:diagnosis / Q000628:therapy; D006403:Hematologic Tests; D006453:Hemoglobinopathies / Q000175:diagnosis / Q000628:therapy; D006801:Humans; D011770:Pyruvate Kinase / Q000172:deficiency; D015323:Pyruvate Metabolism, Inborn Errors / Q000175:diagnosis / Q000628:therapy; D012720:Severity of Illness Index; D013156:Splenectomy
chemical_list: D011770:Pyruvate Kinase
keywords: Aplastic crisis; Hemolysis; Jaundice; Splenectomy