Factor IX:Molecular structure, epitopes, and mutations associated with inhibitor formation
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.
KeywordsFactor VIII Severe Hemophilia Inhibitor Formation Carboxyglutamic Acid Inhibitor Patient
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- 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
- Ljung R, Petrini P, Iindgren AC, Tengborn, and Nilsson IM. Factor VIII and Factor IX inhibitors in haemophiliacs. Lancet339:1550, 1992.Google Scholar
- 6.Nishimura H, Takeya H, Miyata T, Suehiro K, Okamura T, Niho Y, and Iwanaga S. Factor IX Fukuoka. JBC7268:24041, 1993.Google Scholar
- 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
- 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.Ludwig M, Schwaab R, Olek K, Brackmann HH, and Egli H. Haemophilia B+ with inhibitor. Thrombosis andHaemostasis59:340, 1988.Google Scholar