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Volumn 17, Issue 2, 2011, Pages 275-281

Influence of the type of F8 gene mutation on inhibitor development in a single centre cohort of severe haemophilia A patients

Author keywords

Factor VIII; Genotype; Haemophilia A; Inhibitors; Mutation; Risk factors

Indexed keywords

BLOOD CLOTTING FACTOR 8; BLOOD CLOTTING FACTOR 8 ANTIBODY;

EID: 79951793313     PISSN: 13518216     EISSN: 13652516     Source Type: Journal    
DOI: 10.1111/j.1365-2516.2010.02420.x     Document Type: Article
Times cited : (41)

References (33)
  • 1
    • 0038383605 scopus 로고    scopus 로고
    • The epidemiology of inhibitors in haemophilia A: a systematic review
    • Wight J, Paisley S. The epidemiology of inhibitors in haemophilia A: a systematic review. Haemophilia 2003; 9: 418-35.
    • (2003) Haemophilia , vol.9 , pp. 418-435
    • Wight, J.1    Paisley, S.2
  • 2
    • 0017653247 scopus 로고
    • Genetic predisposition to develop factor VIII antibody in classic hemophilia
    • Frommel D, Allain JP. Genetic predisposition to develop factor VIII antibody in classic hemophilia. Clin Immunol Immunopathol 1977; 8: 34-8.
    • (1977) Clin Immunol Immunopathol , vol.8 , pp. 34-38
    • Frommel, D.1    Allain, J.P.2
  • 3
    • 0021314059 scopus 로고
    • Genetic predisposition to inhibitor formation
    • Shapiro SS. Genetic predisposition to inhibitor formation. Prog Clin Biol Res 1984; 150: 45-5.
    • (1984) Prog Clin Biol Res , vol.150 , pp. 45-45
    • Shapiro, S.S.1
  • 4
    • 0032742545 scopus 로고    scopus 로고
    • The role of genetics in inhibitor formation
    • Gill JC. The role of genetics in inhibitor formation. Thromb Haemost 1999; 82: 500-4.
    • (1999) Thromb Haemost , vol.82 , pp. 500-504
    • Gill, J.C.1
  • 5
    • 6644227418 scopus 로고    scopus 로고
    • The Malmo International Brother Study (MIBS): further support for genetic predisposition to inhibitor development in hemophilia patients
    • Astermark J, Berntorp E, White GC, Kroner BL. The Malmo International Brother Study (MIBS): further support for genetic predisposition to inhibitor development in hemophilia patients. Haemophilia 2001; 7: 267-72.
    • (2001) Haemophilia , vol.7 , pp. 267-272
    • Astermark, J.1    Berntorp, E.2    White, G.C.3    Kroner, B.L.4
  • 6
    • 0021308824 scopus 로고
    • The natural history of factor VIII inhibitors in patients with hemophilia A
    • Gill FM. The natural history of factor VIII inhibitors in patients with hemophilia A. Prog Clin Biol Res 1984; 150: 19-29.
    • (1984) Prog Clin Biol Res , vol.150 , pp. 19-29
    • Gill, F.M.1
  • 7
    • 0031598278 scopus 로고    scopus 로고
    • Inhibitors occur more frequently in African-American and Latino haemophiliacs
    • Aledort LM, Dimichele DM. Inhibitors occur more frequently in African-American and Latino haemophiliacs. Haemophilia 1998; 4: 68.
    • (1998) Haemophilia , vol.4 , pp. 68
    • Aledort, L.M.1    Dimichele, D.M.2
  • 8
    • 0029617930 scopus 로고
    • Haemophilia A: mutation type determines risk of inhibitor formation
    • Schwaab R, Brackmann HH, Meyer C et al. Haemophilia A: mutation type determines risk of inhibitor formation. Thromb Haemost 1995; 74: 1402-6.
    • (1995) Thromb Haemost , vol.74 , pp. 1402-1406
    • Schwaab, R.1    Brackmann, H.H.2    Meyer, C.3
  • 9
    • 0037330233 scopus 로고    scopus 로고
    • The molecular basis of hemophilia A: genotype-phenotype relationships and inhibitor development
    • Goodeve AC, Peake IR. The molecular basis of hemophilia A: genotype-phenotype relationships and inhibitor development. Semin Thromb Hemost 2003; 29: 23-30.
    • (2003) Semin Thromb Hemost , vol.29 , pp. 23-30
    • Goodeve, A.C.1    Peake, I.R.2
  • 10
    • 0033710529 scopus 로고    scopus 로고
    • Risk factors for inhibitor development in hemophilia A
    • Oldenburg J, Brackmann HH, Schwaab R. Risk factors for inhibitor development in hemophilia A. Haematologica 2000; 85: 7-13.
    • (2000) Haematologica , vol.85 , pp. 7-13
    • Oldenburg, J.1    Brackmann, H.H.2    Schwaab, R.3
  • 11
    • 0031856834 scopus 로고    scopus 로고
    • The genetic basis of inhibitor development in haemophilia A
    • Tuddenham EG, McVey JH. The genetic basis of inhibitor development in haemophilia A. Haemophilia 1998; 4: 543-5.
    • (1998) Haemophilia , vol.4 , pp. 543-545
    • Tuddenham, E.G.1    McVey, J.H.2
  • 12
    • 0027394923 scopus 로고
    • A sudden increase in factor VIII inhibitor development in multitransfused hemophilia A patients in The Netherlands Dutch Hemophilia Study Group
    • Rosendaal FR, Nieuwenhuis HK, van den Berg HM et al. A sudden increase in factor VIII inhibitor development in multitransfused hemophilia A patients in The Netherlands Dutch Hemophilia Study Group. Blood 1993; 81: 2180-6.
    • (1993) Blood , vol.81 , pp. 2180-2186
    • Rosendaal, F.R.1    Nieuwenhuis, H.K.2    van den Berg, H.M.3
  • 13
    • 0035077234 scopus 로고    scopus 로고
    • Definitions in hemophilia. Recommendation of the scientific subcommittee on factor VIII and factor IX of the scientific and standardization committee of the International Society on Thrombosis and Haemostasis
    • White GC, Rosendaal F, Aledort LM et al. Definitions in hemophilia. Recommendation of the scientific subcommittee on factor VIII and factor IX of the scientific and standardization committee of the International Society on Thrombosis and Haemostasis. Thromb Haemost 2001; 85: 560.
    • (2001) Thromb Haemost , vol.85 , pp. 560
    • White, G.C.1    Rosendaal, F.2    Aledort, L.M.3
  • 14
    • 0016853978 scopus 로고
    • Proceedings: a more uniform measurement of factor VIII inhibitors
    • Kasper CK, Aledort L, Aronson D et al. Proceedings: a more uniform measurement of factor VIII inhibitors. Thromb Diath Haemorrh 1975; 34: 612.
    • (1975) Thromb Diath Haemorrh , vol.34 , pp. 612
    • Kasper, C.K.1    Aledort, L.2    Aronson, D.3
  • 15
    • 0028837315 scopus 로고
    • The Nijmegen modification of the Bethesda assay for factor VIII:C inhibitors: improved specificity and reliability
    • Verbruggen B, Novakova I, Wessels H et al. The Nijmegen modification of the Bethesda assay for factor VIII:C inhibitors: improved specificity and reliability. Thromb Haemost 1995; 73: 247-51.
    • (1995) Thromb Haemost , vol.73 , pp. 247-251
    • Verbruggen, B.1    Novakova, I.2    Wessels, H.3
  • 16
    • 0027529778 scopus 로고
    • A note on the calculation of recovery for factor VIII infusions
    • Lee ML, Gomperts ED, Kingdon HS. A note on the calculation of recovery for factor VIII infusions. Thromb Haemost 1993; 69: 87.
    • (1993) Thromb Haemost , vol.69 , pp. 87
    • Lee, M.L.1    Gomperts, E.D.2    Kingdon, H.S.3
  • 17
    • 0027520025 scopus 로고
    • Inversions disrupting the factor VIII gene are a common cause of severe haemophilia A
    • Lakich D, Kazazian HH Jr, Antonarakis SE, Gitschier J. Inversions disrupting the factor VIII gene are a common cause of severe haemophilia A. Nat Genet 1993; 5: 236-41.
    • (1993) Nat Genet , vol.5 , pp. 236-241
    • Lakich, D.1    Kazazian Jr, H.H.2    Antonarakis, S.E.3    Gitschier, J.4
  • 18
    • 0036096037 scopus 로고    scopus 로고
    • Recurrent inversion breaking intron 1 of the factor VIII gene is a frequent cause of severe hemophilia A
    • Bagnall RD, Waseem N, Green PM, Giannelli F. Recurrent inversion breaking intron 1 of the factor VIII gene is a frequent cause of severe hemophilia A. Blood 2002; 99: 168-74.
    • (2002) Blood , vol.99 , pp. 168-174
    • Bagnall, R.D.1    Waseem, N.2    Green, P.M.3    Giannelli, F.4
  • 19
    • 0035067711 scopus 로고    scopus 로고
    • Rapid hemophilia A molecular diagnosis by a simple DNA sequencing procedure: identification of 14 novel mutations
    • Vidal F, Farssac E, Altisent C, Puig L, Gallardo D. Rapid hemophilia A molecular diagnosis by a simple DNA sequencing procedure: identification of 14 novel mutations. Thromb Haemost 2001; 85: 580-3.
    • (2001) Thromb Haemost , vol.85 , pp. 580-583
    • Vidal, F.1    Farssac, E.2    Altisent, C.3    Puig, L.4    Gallardo, D.5
  • 20
    • 0034124571 scopus 로고    scopus 로고
    • Relationship between factor VIII mutation type and inhibitor development in a cohort of previously untreated patients treated with recombinant factor VIII (Recombinate) Recombinate PUP Study Group
    • Goodeve AC, Williams I, Bray GL, Peake IR. Relationship between factor VIII mutation type and inhibitor development in a cohort of previously untreated patients treated with recombinant factor VIII (Recombinate) Recombinate PUP Study Group. Thromb Haemost 2000; 83: 844-8.
    • (2000) Thromb Haemost , vol.83 , pp. 844-848
    • Goodeve, A.C.1    Williams, I.2    Bray, G.L.3    Peake, I.R.4
  • 21
    • 22544473061 scopus 로고    scopus 로고
    • The Malmo International Brother Study (MIBS). Genetic defects and inhibitor development in siblings with severe hemophilia A
    • Astermark J, Oldenburg J, Escobar M, White GC, Berntorp E. The Malmo International Brother Study (MIBS). Genetic defects and inhibitor development in siblings with severe hemophilia A. Haematologica 2005; 90: 924-31.
    • (2005) Haematologica , vol.90 , pp. 924-931
    • Astermark, J.1    Oldenburg, J.2    Escobar, M.3    White, G.C.4    Berntorp, E.5
  • 22
    • 33645730547 scopus 로고    scopus 로고
    • Characterisation of 96 mutations in 128 unrelated severe haemophilia A patients from France description of 62 novel mutations
    • Vinciguerra C, Zawadzki C, Dargaud Y et al. Characterisation of 96 mutations in 128 unrelated severe haemophilia A patients from France description of 62 novel mutations. Thromb Haemost 2006; 95: 593-9.
    • (2006) Thromb Haemost , vol.95 , pp. 593-599
    • Vinciguerra, C.1    Zawadzki, C.2    Dargaud, Y.3
  • 23
    • 34249690732 scopus 로고    scopus 로고
    • Treatment-related risk factors of inhibitor development in previously untreated patients with hemophilia A: the CANAL cohort study
    • Gouw SC, van der Bom JG, van den Berg HM. Treatment-related risk factors of inhibitor development in previously untreated patients with hemophilia A: the CANAL cohort study. Blood 2007; 109: 4648-54.
    • (2007) Blood , vol.109 , pp. 4648-4654
    • Gouw, S.C.1    van der Bom, J.G.2    van den Berg, H.M.3
  • 24
    • 51249105747 scopus 로고    scopus 로고
    • Haemophilia A mutations in the UK: results of screening one-third of the population
    • Green PM, Bagnall RD, Waseem NH, Giannelli F. Haemophilia A mutations in the UK: results of screening one-third of the population. Br J Haematol 2008; 143: 115-28.
    • (2008) Br J Haematol , vol.143 , pp. 115-128
    • Green, P.M.1    Bagnall, R.D.2    Waseem, N.H.3    Giannelli, F.4
  • 25
    • 43449104265 scopus 로고    scopus 로고
    • The Italian AICE-Genetics hemophilia A database: results and correlation with clinical phenotype
    • Margaglione M, Castaman G, Morfini M et al. The Italian AICE-Genetics hemophilia A database: results and correlation with clinical phenotype. Haematologica 2008; 93: 722-8.
    • (2008) Haematologica , vol.93 , pp. 722-728
    • Margaglione, M.1    Castaman, G.2    Morfini, M.3
  • 26
    • 47649119586 scopus 로고    scopus 로고
    • Factor VIII genotype and inhibitor development in patients with haemophilia A: highest risk in patients with splice site mutations
    • Boekhorst J, Lari GR, D'Óiron R et al. Factor VIII genotype and inhibitor development in patients with haemophilia A: highest risk in patients with splice site mutations. Haemophilia 2008; 14: 729-35.
    • (2008) Haemophilia , vol.14 , pp. 729-735
    • Boekhorst, J.1    Lari, G.R.2    D'Óiron, R.3
  • 27
    • 33845485057 scopus 로고    scopus 로고
    • Mechanisms of action of immune tolerance induction against factor VIII in patients with congenital haemophilia A and factor VIII inhibitors
    • Reipert BM, van Helden PM, Schwarz HP, Hausl C. Mechanisms of action of immune tolerance induction against factor VIII in patients with congenital haemophilia A and factor VIII inhibitors. Br J Haematol 2007; 136: 12-25.
    • (2007) Br J Haematol , vol.136 , pp. 12-25
    • Reipert, B.M.1    van Helden, P.M.2    Schwarz, H.P.3    Hausl, C.4
  • 28
    • 0031017506 scopus 로고    scopus 로고
    • Partial correction of a severe molecular defect in hemophilia A, because of errors during expression of the factor VIII gene
    • Young M, Inaba H, Hoyer LW et al. Partial correction of a severe molecular defect in hemophilia A, because of errors during expression of the factor VIII gene. Am J Hum Genet 1997; 60: 565-73.
    • (1997) Am J Hum Genet , vol.60 , pp. 565-573
    • Young, M.1    Inaba, H.2    Hoyer, L.W.3
  • 29
    • 0031989414 scopus 로고    scopus 로고
    • Small deletion/insertion mutations within poly-A runs of the factor VIII gene mitigate the severe haemophilia A phenotype
    • Oldenburg J, Schroder 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.
    • (1998) Thromb Haemost , vol.79 , pp. 452-453
    • Oldenburg, J.1    Schroder, J.2    Schmitt, C.3    Brackmann, H.H.4    Schwaab, R.5
  • 30
    • 70449370870 scopus 로고    scopus 로고
    • Classification of factor VIII gene mutations according to risk of inhibitor formation
    • Abstract 09FP05.
    • Oldenburg J, Albert T, Schröder J et al. Classification of factor VIII gene mutations according to risk of inhibitor formation. Haemophilia 2008; 14(Suppl. 2): 1-120. Abstract 09FP05.
    • (2008) Haemophilia , vol.14 , Issue.SUPPL. 2 , pp. 1-120
    • Oldenburg, J.1    Albert, T.2    Schröder, J.3
  • 31
    • 0141707680 scopus 로고    scopus 로고
    • Analysis of the consequences of premature termination codons within factor VIII coding sequences
    • David D, Santos IM, Johnson K, Tuddenham EG, McVey JH. Analysis of the consequences of premature termination codons within factor VIII coding sequences. J Thromb Haemost 2003; 1: 139-46.
    • (2003) J Thromb Haemost , vol.1 , pp. 139-146
    • David, D.1    Santos, I.M.2    Johnson, K.3    Tuddenham, E.G.4    McVey, J.H.5
  • 32


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