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1 J KMA Special Issue Jeong Ok Hah, MD Department of Pediatrics, Yeungnam University College of Medicine E mail : johah@med.yu.ac.kr J Korean Med Assoc 2006; 49(10): Abstract T he hereditary hemolytic anemia (HHA) can be classified into three types according to the pathogenesis: RBC membrane defects, hemoglobinopathies, and RBC enzymopathies. Clinical characteristics of these three types of HHA are presented briefly in this paper. In Korea, HHA due to RBC membrane defect such as hereditary spherocytosis had been relatively well recognized, while HHA due to hemoglobinopathies and RBC enzymopathies had been considered rare. However, with the recent development of molecular testing, thalassemia, G6PD and pyruvate kinase deficiency have been reported with identification of disease causing mutations. If a patient with microcytic hypochromic anemia shows unproportionally low MCV or MCH or refractory to iron therapy, hemoglobin electrophoresis and gene study for thalassemia or other unstable hemoglobinopathies are needed. It should be noted that the recent population migration to Korea from the regions where hemoglobinopathies or enzymopathies are prevalent warrants considering a broad spectrum of etiologies for the diagnosis of HHA. Keywords : Hereditary hemolytic anemia; RBC membrane defect; Hemoglobinopathy; RBC enzymopathy 908
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10 Drugs to be avoided in G6PD deficiency Antibacterial Sulfanilamide Sulfapyridine Sulfadimidine Sulfacetamide Sulfisoxazole Sulfasalazine Dapsone Sulfoxone Glucosulfone sodium Septrin Nitrofurantoin Furazolidone Nitrofurazone Chloramphenicol p Aminosalicylic acid Antimalarial Primaquine Pamaquine Chloroquine Antipyretics Acetylsalicylic acid Phenacetin Anthelminthics Naphthol Stibophen Niridazole Miscellaneous Vitamin K analogues Methylene blue Probenecid Phenazopyridine Chemicals Phenylhydrazine Benzene Naphthalene 917
11 Hah JO 1. Ahn DH, Sohn KC, Kang IJ, Kang JM, Ko YS, Hwang PH, et al. Statistical Analysis of Hemolytic Anemia in Korea. Korean J Hematal 1991; 26: The Korean Society of Hematology. Hematology. Seoui: E Public, 2006: Lee YK, Cho HI, Park SS, Lee YJ, Ra EK, Ahn HS, et al. Abnormalities of erythrocyte membrane proteins in Korean patients with hereditary spherocytosis. J Korean Med Sci 2000; 15: Park SS, Lee YJ, Kim JY, Joo SI, Hattori Y, Cho HI, et al. Thalassemia in the Korean population. Hemoglobin 2002; 26:
12 5. Lee GB, Lee SJ, Kim YJ, Kim HH, Lee WB, et al. A Case of G6 PD Guadalajara. Korean J Pediatr 2004; 47: Park Hah JO, Kanno H, Kim WD, Fujii H. A novel homozygous mutation of PKLR gene in a pyruvate kinase deficient Korean family. Acta Haematologica 2005; 113: Gallagher PG, Lux SE. Disorders of the erythrocyte membrane. In: Nathan DG, Orkin SH, Ginsburg D, Look AT, eds. Hematology of Infancy and Childhood. 6th ed. Philadelphia: Saunders, 2003: Segel GB. Hereditary spherocytosis. In: Behrman RE, Kliegman RM, Jenson HB, eds. Nelson Textbook of Pediatrics. 17th ed. Philadelphia: Saunders, 2004: Quirolo K, Vichinsky E. Hemoglobin disorders. In: Behrman RE, Kliegman RM, Jenson HB, eds. Nelson Textbook of Pediatrics. 17th ed. Philadelphia: Saunders; 2004: Borgna Pignatti C, Galanello R. Thalassemias and related disoders: Quantitative disorders of hemoglobin synthesis. In: Greer JP, Foerster J, Lukens JN, Rodgers GM, Paraskevas F, Glader B, eds. Wintrobe s Clinical Hematology. 11th ed. Philadelphia: Lippincott; 2004: Weatherall DJ. The thalassemias. In: Stamatoyannopoulus G. Majerus PW, Perlmutter RM, Varmus H, eds. The Molecular Basis of Blood Diseases. 3rd ed. Philadelphia: saunders; 2001: Hemoglobin mutation database: http: //globin.cse.psu.edu/ 13. Beutler E. Disorders of hemoglobin: sickle cell anemia and related abnormalities. In: Lichtman MA, Beutler E, Kipps TJ, Seligsohn U, Kanshansky K, Prchal JT, eds. Williams Hematology. 7th ed. New York: McGraw Hill, 2006: Hirono A, Kanno H, Miwa S, Beutler E. Pyruvate kinase deficiency and other enzymopathies of the erythrocyte. Luzzatto L, Mehta A, Vulliamy T. Glucose 6 phosphate dehydrogenase. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The Metabolic and Molecular Bases of Inherited Disease. 8th ed. New York: McGraw Hill, 2001: , Mentzer WC. Pyruvate kinase deficiency and disorders of glycolysis. Luzzatto L. Glucose 6 phosphate dehydrogenase deficiency and hemolytic anemia. In: Nathan DG, Orkin SH, Ginsburg D, Look AT, eds. Hematology of Infancy and Childhood. 6th ed. Philadelphia: Saunders, 2003: , Peer Reviewer Commentary 919
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