Characteristics of inhibitors in mild/moderate haemophilia A

Haemophilia

Volumn 12, Issue SUPPL. 6, 2006, Pages 43-47

  Peerlinck, Kathelijne ^a,b   Jacquemin, M ^b  

^a UNIVERSITY HOSPITALS LEUVEN   (Belgium)

^b UNIVERSITY OF LEUVEN   (Belgium)

Author keywords

Haemophilia A; Inhibitor; Mild moderate

Indexed keywords

BLOOD CLOTTING FACTOR 8 ANTIBODY; BLOOD CLOTTING FACTOR 8 CONCENTRATE; BLOOD CLOTTING FACTOR 8 INHIBITOR; HLA ANTIGEN CLASS 2; MAJOR HISTOCOMPATIBILITY ANTIGEN CLASS 2; MUTANT PROTEIN;

ARTICLE; BLEEDING DISORDER; BOLUS INJECTION; CELL SPECIFICITY; CONTINUOUS INFUSION; FREQUENCY ANALYSIS; GENETIC PREDISPOSITION; HAPLOTYPE; HEMOPHILIA A; HUMAN; IMMUNE RESPONSE; MOLECULAR RECOGNITION; MUTATIONAL ANALYSIS; PHENOTYPIC VARIATION; PRIORITY JOURNAL; PROTEIN PROTEIN INTERACTION; T LYMPHOCYTE; WILD TYPE;

ANTIBODY FORMATION; BLOOD COAGULATION FACTOR INHIBITORS; FACTOR VIII; GENETIC PREDISPOSITION TO DISEASE; HEMOPHILIA A; HUMANS; IMMUNITY, CELLULAR; RISK FACTORS;

EID: 33751016399     PISSN: 13518216     EISSN: 13652516     Source Type: Journal    
DOI: 10.1111/j.1365-2516.2006.01365.x     Document Type: Article

References (29)

1. Lusher JM, Arkin S, Abildgaard CF, Schwartz RS. Recombinant factor VIII for the treatment of previously untreated patients with haemophilia A. N Engl J Med 1993; 328: 453-9.
2. Sultan Y, French Haemophilia Study Group. Prevalence of inhibitors in a population of 3435 haemophilia patients in France. Thromb Haemost 1992; 67: 600-2.
3. Rizza CR, Spooner RJD. Treatment of haemophilia and related disorders in Britain and Northern Ireland during 1976-80: Report on behalf of the directors of haemophilia centres in the United Kingdom. Br Med J 1983; 286: 929-32.
4. Mc Millan CW, Shapiro SS, Whitehurst D, Hoyer LW, Vijaya Rao A, Lazerson J, Haemophilia Study group. The natural history of factor VIII:C inhibitors in patients with haemophilia A: A national cooperative study. II; Observations on the initial development of factor VIII:C inhibitors. Blood 1988; 71: 344-8.
5. Hay CR, Ludlam CA, Colvin BT et.al. Factor VIII inhibitors in mild and moderate-severity haemophilia A. UK Haemophilia Centre Directors Organisation. Thromb Haemost 1998; 79: 762-6.
6. Rizza CR, Spooner RJD, Giangrande PLF, on behalf of the UK Haemophilia Centre Doctors' Organisation (UKHCDO). Treatment of haemophilia in the United Kingdom 1981-96. Haemophilia 2001; 7: 349-59.
7. Sharathkumar A, Lillicrap D, Blanchette VS et.al. Intensive exposure to factor VIII is a risk factor for inhibitor formation in mild haemophilia A. J Thromb Haemost 2003; 1: 1228-36.
8. Hay CRM, Lee CA. Inhibitors in mild and moderate haemophilia A. In: Rodriguez-Merchan EC, Lee CA, eds. Inhibitors in Patients with Haemophilia. Oxford, UK: Blackwell Publishing, 2002: 92-7.
9. Peerlinck K, Jacquemin M, Arnout J et.al. Antifactor VIII antibody inhibiting allogeneic but not autologous factor VIII in patients with mild haemophilia A. Blood 1999; 93: 2267-73.
10. von Auer CH, Oldenburg J, von Depka M, Escuriola-Ettinghausen C, Kurnik K, Lenk H, Scharrer I. Inhibitor development in patients with haemophilia A after continuous infusion of factor VIII concentrates. Ann N Y Acad Sci 2005; 1051: 498-505.
11. Kemball-Cook G, Tuddenham EG, Wacey AE. The factor VIII structure and mutation resource site: HAMSTeRS version 4. Nucleic Acids Res 1998; 26: 216-9.
12. Goodeve AC, Peake IR. The molecular basis of haemophilia A: genotype-phenotype relationships and inhibitor development. Semin Thromb Hemost 2003; 29: 23-30.
13. Santagostino E, Gringeri A, Tagliavacca L, Mannucci P. Inhibitors to factor VIII in a family with mild haemophilia: Molecular characterization and response to factor VIII and desmopressin. Thromb Haemost 1995; 74: 619-21.
14. Knobe KE, Villoutreix BO, Tengborn LI, Petrini P, Ljung RC. Factor VIII inhibitors in two families with mild haemophilia A: Structural analysis of the mutations. Haemostasis 2000; 30: 268-79.
15. Jacquemin M, De Maeyer M, D'Oiron R, Lavend'homme R, Peerlinck K, Saint-Remy JM. Molecular mechanisms of mild and moderate hemophilia A. J Thromb Haemost 2003; 1: 456-63.
16. Bril WS, Maclean PE, Kaijen PHP et.al. HLA class II genotype and factor VIII inhibitors in mild haemophilia A patients with an Arg593 to Cys mutation. Haemophilia 2004; 10: 509-14.
17. Astermark J, Oldenburg J, Pavlova A, Berntorp E, Lefvert A-K, on behalf of MIBS Study Group. Polymorphisms in the IL-10 but not in the IL-1beta and IL-4 genes are associated with inhibitor development in patients with haemophilia A. Blood 2006; 107: 3167-72.
18. Lechner K, Ludwig E, Niessner H, Thaler E. Factor VIII inhibitor in a patient with mild haemophilia A. Haemostasis 1972-73; 1: 261-70.
19. Bovill EG, Burns SL, Golden EA. Factor VIII antibody in a patient with mild haemophilia. Br J Haematol 1985; 61: 323-8.
20. Biggs R, Austen DE, Denson KW et.al. The mode of action of antibodies which destroy factor VIII. II. Antibodies which give complex concentration graphs. Br J Haematol 1972; 23: 137-55.
21. Hay CRM. Factor VIII inhibitors in mild and moderate-severity haemophilia A. Haemophilia 1998; 4: 558-63.
22. Fijnvandraat K, Turenhout EAM, van den Brink EN et.al. The missense mutation Arg593 → Cys is related to antibody formation in a patient with mild haemophilia A. Blood 1997; 89: 4371-7.
23. Jacquemin M, Benhida A, Peerlinck K et.al. A human antibody directed to the factor VIII C1 domain inhibits factor VIII cofactor activity and binding to von Willebrand factor. blood 2000; 95: 156-63.
24. Suzuki H, Shima M, Arai M et.al. Factor VIII Ise (R2159C) in a patient with mild haemophilia A, an abnormal factor VIII with retention of function but modification of C2 epitopes. Thromb Haemost 1997; 77: 862-7.
25. d'Oiron R, Lavergne JM, Lavend'homme R et.al. Deletion of alanine 2201 in the FVIII C2 domain results in mild haemophilia A by impairing FVIII binding to vWF and phospholipids and destroys a major FVIII antigenic determinant involved in inhibitor development. Blood 2004; 103: 155-7.
26. Gilles JG, Lavend'homme R, Peerlinck K et.al. Some factor VIII (FVIII) inhibitors recognise a FVIII epitope(s) that is present only on FVIII-vWF complexes. Thromb Haemost 1999; 82: 40-5.
27. Thompson AR, Murphy MEP, Liu M et.al. Loss of tolerance to exogenous and endogenous factor VIII in a mild haemophilia A patient with an Arg593 to Cys mutation. Blood 1997; 90: 1902-10.
28. Van den Brink EN, Timmermans SM, Turenhout EA et.al. Longitudinal analysis of factor VIII inhibitors in a previously untreated haemophilia A patient with an Arg 593 to Cys substitution. Thromb Haemost 1999; 81: 723-6.
29. Jacquemin M, Vantomme V, Buhot C et.al. CD4+ T-cell clones specific for wild-type factor VIII: A molecular mechanism responsible for a higher incidence of inhibitor formation in mild/moderate haemophilia A. Blood 2003; 101: 1351-8.