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Hemophilia  

Yoo, Ki Young (Korea Hemophilia Foundation)
Publication Information
Clinical and Experimental Pediatrics / v.49, no.8, 2006 , pp. 821-829 More about this Journal
Abstract
Hemophilia is the most common coagulation disorder. It has a long history. Hemophilia A is caused by FVIII gene mutation, and hemophilia B by FIX gene mutation. Those genes are located on X chromosome long arm. Bleedings in hemophiliacs predominantly occur in joints and muscles. Because those site are insufficient in tissue factor to induce hemostasis. Among joints knee, ankle and elbow are most frequently affected because their synovial structure is vulnerable to injury compared to other joints. Hemophilia is diagnosed with factor assay. Severe hemophilia is below 1% of FVIII : C, moderate between 1% and 5%, mild over 5%. Carrier detection and prenatal diagnosis have been conducted with RFLP-based linkage analysis and DNA sequencing. Mainstay of treatment is factor replacement therapy so far. Bleedings can be controlled by infusion of factor concentrates. Hemophilc arthropathy and muscle contracture are representative sequelae. Complications of facotor replacement therapy are inhibitor development and infections. Hemophiliacs with inhibitor should be managed with large dose factor concentrate, bypassing agent, ITI and immunosuppression. Ultimately, hemophilia could be cured by gene therapy.
Keywords
Hemophilia; Diagnosis; Treatment; Complication;
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Times Cited By KSCI : 1  (Citation Analysis)
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1 Nilsson IM. Heredity in hemophilia. In : Berntorp E, editor. Hemophilia. 2nd ed. Stockholm:Octapharma, 2004:19-24
2 Korea Hemophilia Foundation. Annual report 2005. Seoul : KHF, 2005:23-37
3 Kim GY. Clinical practice of hemostasis and thrombosis. Seoul : Koonja, 1997:67-87
4 Keeney S, Mitchell M, Goodeve A. The molecular analysis of haemophilia A : a guideline from the UK haemophilia centre doctor's organization haemophilia genetics laboratory network. Haemophilia 2005;11:387-97   DOI   ScienceOn
5 O'Donnell J, Tuddenham EGD, Manning R, Kemball-Cook G, Johnson D, Laffan M. High prevalence of elevated facotor VIII levels in patients referred for thrombophilia screening : role of increased synthesis and relationship to the acute phase reaction. Thromb Haemost 1997;77:825-8
6 Pool GP, Hershgold EJ, Pappenhagen AR. High-potency antihaemophilic factor concentrate prepared from cryoglobulin precipitate. Nature 1964;203:312
7 Kaufman RJ, Antonarakis SE. Structure, biology, and genetics of factor VIII. In : Hoffman R, Benz E, Shattil SJ, Furie B, Cohen HJ, Silberstein LE, et al., editors. Hematology basic principles and practice. 4th ed. Philadelphia : Elsevier churchill livingstone, 2005:2011-30
8 Lozier JN, Kessler CM. Clinical aspects and therapy of hemophilia. In : Hoffman R, Benz E, Shattil SJ, Furie B, Cohen HJ, Silberstein LE, et al., editors. Hematology basic principles and practice. 4th ed. Philadelphia : Elsevier churchill livingstone, 2005:2047-65
9 Rickard KA. The diagnosis of hemophilia A and B and von Willebrand's disease. In : Forbes CD, Aledort L, Madhok R, editors. Hemophilia. Oxford : Chapman & Hall Medical, 1997:54-62
10 Rosner F. Hemophilia in the Talmud and rabbinic writings. Ann Intern Med 1969;70:833-7   DOI   ScienceOn
11 Fijnvandraat K, Bril WS, Voorberg J. Immunology of inhibitor development in hemophilia A. Semin Thromb Haemost 2003;29:69-75   DOI   ScienceOn
12 Berntorp E. Factor VIII concentrate. In : Forbes CD, Aledort L, Madhok R, editors. Hemophilia. Oxford : Chapman & Hall Medical, 1997:181-92
13 Korea Hemophilia Foundation. Annual report 2005. Seoul : KHF, 2005:23-37
14 Roosendaal G, Van den Berg HM, Lafeber FPJG, Bijlsma JWJ. Blood-induced joint damage : an overview of musculoskeletal research in haemophilia. In : Rodriguez-merchan EC, Goddard NJ, Lee CA, editors. Musculoskeletal aspects of haemophilia. Malden:Blackwell Science, 2000:18-26
15 Kaufman RJ, Antonarakis SE. Structure, biology, and genetics of factor VIII. In : Hoffman R, Benz E, Shattil SJ, Furie B, Cohen HJ, Silberstein LE, et al., editors. Hematology basic principles and practice. 4th ed. Philadelphia : Elsevier churchill livingstone, 2005:2011-30
16 Goodeve AC, Peake IR. Diagnosis of hemophilia A and B carriers and prenatal diagnosis. In : Forbes CD, Aledort L, Madhok R, editors. Hemophilia. Oxford : Chapman & Hall Medical, 1997:63-74
17 Madhok R. Musculoskeletal bleeding in hemophilia. In : Forbes CD, Aledort L, Madhok R, editors. Hemophilia. Oxford : Chapman & Hall Medical, 1997:115-22
18 Morrissey JH. Tissue factor an factor VII initiation of coagulation. In : Colman RW, Hirsh J, Marder VJ, Clowes AW, George JN, editors. Hemostasis and thrombosis. 4th ed. Philadelphia : Linppincott Williams & Wilkins, 2001:89-101
19 Foster PR, Cuthbertson B, McIntosh RV, MacLeod AJ. Safer clotting factor concentrates. In : Forbes CD, Aledort L, Madhok R, editors. Hemophilia. Oxford : Chapman & Hall Medical, 1997:307-32
20 Starr D. Blood history. Seoul : Erum Publishing, 1998:67- 101
21 Yi KN, Rhee CS. Clinical pathology file. 2nd ed. Seoul : Euihak Munwhasa Co. 1993:785-878
22 Lazarchick J, Hoyer LW. Immunoradiometric measurement of factor VIII procoagulant antigen. J Clin Invest 1978;62: 1048-52   DOI