Factor IX:Molecular structure, epitopes, and mutations associated with inhibitor formation

  • Katherine A. High
Part of the Advances in Experimental Medicine and Biology book series (AEMB, volume 386)


The focus of this overview is the occurrence of inhibitors in hemophilia B. Differences exist between hemophilia A and hemophilia B in terms of disease severity and inhibitor incidence, and these are reviewed. The structure of the Factor IX (F.IX) protein and epitopes of F.IX that have been mapped using monoclonal antibodies are also reviewed. Finally, mutations that have been associated with inhibitor formation in hemophilia B are discussed.


Factor VIII Severe Hemophilia Inhibitor Formation Carboxyglutamic Acid Inhibitor Patient 
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  1. 1.
    Department of Health and Human Services:National Heart and Lung Institute Blood Resource Studies. Vol 3:Pilot Study of Hemophilia Treatment in the U.S. U.S. Government Printing Office, Washington, 1972.Google Scholar
  2. 2.
    Biggs R. Jaundice and antibodies directed against Factors VIII and IX in patients treated for haemophilia or Christmas disease in the United Kingdom. British J Haematology26:313, 1974.CrossRefGoogle Scholar
  3. 3.
    Sultan Y and French Hemophilia Study Group. Prevalence of inhibitors in a population of 3,435 hemophilia patients in France. Thrombosis and Haemostasis67:600, 1992.PubMedGoogle Scholar
  4. 4.
    Ehrenforth S, Kreuz W, Scharrer I, Linde R, Funk M, Gungor T, Krackhardt B, and Kornhuber B. Incidence of development of Factor VIII and Factor IX inhibitors in haemophiliacs. Lancet339:594, 1992.PubMedCrossRefGoogle Scholar
  5. Ljung R, Petrini P, Iindgren AC, Tengborn, and Nilsson IM. Factor VIII and Factor IX inhibitors in haemophiliacs. Lancet339:1550, 1992.Google Scholar
  6. 6.
    Nishimura H, Takeya H, Miyata T, Suehiro K, Okamura T, Niho Y, and Iwanaga S. Factor IX Fukuoka. JBC7268:24041, 1993.Google Scholar
  7. 7.
    Kurachi K and Davie EW. Isolation and characterization of a cDNA coding for human factor IX. PNAS79. 6461, 1982.PubMedCrossRefGoogle Scholar
  8. 8.
    Evans JP, Watzke HH, Ware JL, Stafford DW, and High KA. Molecular cloning of a cDNA encoding canine factor IX. Blood74:207, 1989.PubMedGoogle Scholar
  9. 9.
    Katayama K, Ericsson LH, Enfield DL, Walsh KA, Neurath H, Davie EW, and Titani K. Comparison of amino acid sequence of bovine coagulation Factor IX (Christmas Factor) with that of other vitamin K-dependent plasma proteins. PNAS76:4990, 1979.PubMedCrossRefGoogle Scholar
  10. 10.
    Wu SM, Stafford DW, and Ware J. Deduced amino acid sequence of mouse blood-coagulation factor IX. Gene86:275, 1990.PubMedCrossRefGoogle Scholar
  11. 11.
    Frazier D, Smith KJ, Cheung WF, Ware J, Lin SW, Thompson AR, Reisner H, Bajaj SP, and Stafford DW Mapping of monoclonal antibodies to human Factor IX. Blood74:971, 1989.PubMedGoogle Scholar
  12. 12.
    Yoshitake S, Schach BG, Foster DC, Davie EW, and Kurachi K. Nucleotide sequence of the gene for human Factor IX (antihemophilic factor B). Biochemistry24:3736, 1985.PubMedCrossRefGoogle Scholar
  13. 13.
    Giannelli F, Green PM, High KA, Sommer S, Poon MC, Ludwig M, Schwaab R, Reitsma PH, Goossens M, Yoshioka A, and Brownlee GG. Haemophilia B:database of point mutations and short additions and deletions—fourth edition, 1993. Nucleic Acids Research21:3075, 1993.Google Scholar
  14. 14.
    Green PM, Montandon AJ, Bentley DR, and Giannelli F. Genetics and molecular biology of haemophilias A and B. Blood Coagulation and Fibrinolysis2:539, 1991.PubMedCrossRefGoogle Scholar
  15. 15.
    Matthews RJ, Anson DS, Peake IR, and Bloom AL. Heterogeneity of the Factor IX locus in nine hemophilia B inhibitor patients. J Clin Invest79:7A6, 1987.Google Scholar
  16. 16.
    Ludwig M, Schwaab R, Olek K, Brackmann HH, and Egli H. Haemophilia B+ with inhibitor. Thrombosis andHaemostasis59:340, 1988.Google Scholar

Copyright information

© Plenum Press, New York 1995

Authors and Affiliations

  • Katherine A. High
    • 1
  1. 1.Children’s Hospital of PhiladelphiaPhiladelphiaUSA

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