Genetic Basis of Inhibitor Development in Severe Haemophilia A and B

Inhibitors in Patients with Haemophilia

Volumn , Issue , 2008, Pages 21-26

  Oldenburg, J ^a,b   Tuddenham, E ^c  

^a Institute of Transfusion Medicine and Immune Haematology   (Germany)

^b UNIVERSITY OF BONN   (Germany)

^c HAMMERSMITH HOSPITAL   (United Kingdom)

Author keywords

Fviii fix genotype; Genetics of immune system; Haemophilia a; Haemophilia b; Inhibitor development

Indexed keywords

EID: 11044225185     PISSN: None     EISSN: None     Source Type: Book    
DOI: 10.1002/9780470757260.ch4     Document Type: Chapter

References (38)

1. Schwaab R, Brackmann HH, Meyer C et al.Haemophilia A: mutation type determines risk of inhibitor formation. Thromb Haemost 1995; 74: 1402-6.
2. Oldenburg J, Picard J, Schwaab R et al. HLA genotype of patients with severe haemophilia A due to intron 22 inversion with and without inhibitors to factor VIII. Thromb Haemost 1997; 77:238-42.
3. Hay CR, Ollier W, Pepper L et al. HLA class II profile: a weak determinant of factor VIII inhibitor development in severe haemophilia A: UKHCDO Inhibitor Working Party. Thromb Haemost 1997; 77: 234-7.
4. Kreuz W, Becker S, Lenz E et al. Factor VIII inhibitors in patients with haemophilia A: epidemiology of inhibitor development and induction of immune tolerance for factor VIII. Semin Thromb Haemost 1995; 21: 382-9.
5. Scharrer I, Neutzling O. Incidence of inhibitors in haemophiliacs:a review of the literature. Blood Coag Fibrinolysis 1993; 4: 753-8.
6. Kemball-Cook G, Tuddenham EGD, Wacey AI. The factor VIII structure and mutation resource site: HAMSTeRS version 4. Nucleic Acids Res 1998; 26: 216-19.
7. Gainnelli F, Green PM, Sommer SS et al. Haemophilia B: database of point mutations and short additions and deletions (eighth edition). Nucleic Acids Res 1998; 26: 265-8.
8. Ljung RC. Gene mutations and inhibitor formation in patients with hemophilia B. Acta Haematol 1995; 94 (Suppl. 1): 49-52.
9. Oldenburg J, Brackmann HH, Schwaab R. Risk factors for inhibitor development in haemophilia A. Haematologica 2000; 85 (Suppl. 10): 7-13.
10. Young M, Inaba H, Hoyer LW et al. Partial correction of a severe molecular defect in haemophilia A, because of errors during expression of the factor VIII gene. Am J Hum Genet 1997; 60:565-73.
11. Oldenburg J, Schröder J, Schmitt C, Brackmann HH, Schwaab R. Small deletion/insertion mutations within poly-A-runs of the factor VIII gene mitigate the severe haemophilia A phenotype. Thromb Haemost 1998; 79: 452-3.
12. Becker J, Schwaab R, Möller-Taube A et al. Characterization of the factor VIII defect in 147 patients with sporadic hemophilia A:family studies indicate a mutation type-dependent sex ratio of mutation frequencies. Am J Hum Genet 1996; 58: 657-70.
13. 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.
14. Jacquemin M, Lavend'homme R, Benhida A et al. A novel cause of mild/moderate haemophilia A: mutations scattered in the factor VIII C1 domain reduce factor VIII binding to von Willebrand factor. Blood 2000; 96: 958-65.
15. Liu ML, Shen BW, Nakaya S et al. Haemophilic factor VIII C1-and C2-domain missense mutations and their modeling to the 1.5-angstrom human C2-domain crystal structure. Blood 2000; 96:979-87.
16. Pratt KP, Shen BW, Takeshima K et al. Structure of the C2 domain of human factor VIII at 1.5 A resolution. Nature 1999; 402:439-42.
17. Scharrer I, Bray GL, Neutzling O. Incidence of inhibitors in haemophilia A patients: a review of recent studies of recombinant and plasma-derived factor VIII concentrates. Haemophilia 1999; 5:145-54.
18. Lusher J, Arkin S, Hurst D. Recombinant FVIII (Kogenate) treatment of previously untreated patients (PUPs) with haemophilia A: update of safety, efficacy and inhibitor development after seven study years. Florence: ISTH. Thromb Haemost 1997:Suppl. 162.
19. Gruppo R, Chen H, Schroth P, Bray GL. Safety and immunogenicity of recombinant factor VIII (Recombinate) in previously untreated patients (PUPs): a 7.3 year update. The Hague: WFH. Haemophilia 1998; 4: 228.
20. Addiego J, Kasper C, Abildgaard C. Increased frequency of inhibitors in African American haemophilia A patients. Nashville:ASH. Blood 1994: Suppl. 239.
21. Cox Gill J. The role of genetics in inhibitor formation. Thromb Haemost 1999; 82: 500-4.
22. Aly AM, Aledort LM, Lee TD, Hoyer LW. Histocompatibility antigen patterns in haemophilic patients with factor VIII antibodies. Br J Haematol 1990; 76: 238-41.
23. Frommel D, Allain JP, Saint-Paul E et al. HLA antigens and factor VIII antibody in classic haemophilia: European study group of factor VIII antibody. Thromb Haemost 1981; 46: 687-9.
24. Lippert LE, Fisher LM, Schook LB. Relationship of major histocompatibility complex class II genes to inhibitor antibody formation in haemophilia A. Thromb Haemost 1990; 64: 564-8.
25. Mayr WR, Lechner K, Niessner H, Pabinger-Fasching I. HLA-DR and Factor VIII antibodies in haemophilia A. Thromb Haemost 1984; 51: 293.
26. Chicz RM, Urban RG, Gorga JC et al. Specifity and promiscuity among naturally processed peptides bound to HLA-DR alleles. J Exp Med 1993; 178: 27-47.
27. Foster PA, Fulcher CA, Houghten RA, de Graaf Mahoney S, Zimmerman TS. A murine monoclonal anti-factor VIII inhibitory antibody and two human factor VIII inhibitors bind to different areas within a twenty amino acid segment of the acidic region of factor VIII heavy chain. Blood Coag Fibrinolysis 1990; 1: 9-15.
28. Healey JF, Lubin IM, Nakai H et al. Residues 484-508 contain a major determinant of the inhibitory epitope in the A2 domain of human factor VIII. J Biol Chem 1995; 270: 14505-9.
29. Tiarks C, Pechet L, Anderson J, Mole JE, Humphreys RE. Characterization of a factor VIII immunogenic site using factor VIII synthetic peptide 1687-1695 and rabbit anti-peptide antibodies. Thromb Res 1992; 65: 301-10.
30. Barrow RT, Healey JF, Gailani D, Scandella D, Lollar P. Reduction of the antigenicity of factor VIII toward complex inhibitory antibody plasmas using multiply-substituted hybrid human/porcine factor VIII molecules. Blood 2000; 95: 564-8.
31. Fijnvandraat K, Celie PH, Turenhout EA et al. A human alloantibody interferes with binding of factor IXa to the factor VIII light chain. Blood 1998; 91: 2347-52.
32. Healey JF, Barrow RT, Tamim HM et al. Residues Glu2181-Val2243 contain a major determinant of the inhibitory epitope in the C2 domain of human factor VIII. Blood 1998; 92: 3701-9.
33. Scandella D, Gilbert GE, Shima M et al. Some factor VIII inhibitor antibodies recognize a common epitope corresponding to C2 domain amino acids 2248-2312, which overlap a phospholipidbinding site. Blood 1995; 86: 1811-19.
34. 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.
35. Lenting PJ, van Mourik JA, Mertens K. The life cycle of coagulation factor VIII in view of its structure and function. Blood 1998; 92:3983-96.
36. Scandella D, Mattingly M, de Graaf S, Fulcher CA. Localization of epitopes for human factor VIII inhibitor antibodies by immunoblotting and antibody neutralization. Blood 1989; 74: 1618-26.
37. Peerlinck K, Jacquemin MG, 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.
38. Fijnvandraat K, Turenhout EA, 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.