Genetic background and inhibitors in previously untreated or minimally treated young patients with severe haemophilia A treated with sucrose-formulated recombinant factor VIII

• References

• 1 Kreuz W, Escuriola-Ettingshausen C, Zyschkav A. et al. Inhibitor development in previously untreated patients with hemophilia A: a prospective long-term follow-up comparing plasma-derived and recombinant products. Semin Thromb Hemost 2002; 28: 285-90.
• 2 Oldenburg J, Schröder Hermann J, Brackmann H. et al. Environmental and genetic factors influencing inhibitor development. Semin Hematol 2004; 41: 82-8.
• 3 Kreuz W, Gill JC, Rothschild C. et al. Full-length sucrose-formulated recombinant factor VIII for treatment of previously untreated or minimally treated young children with severe haemophilia A: results of an international clinical investigation. Thromb Haemost 2005; 93: 457-67.
• 4 Miller SA, Dykes DD, Polesky HF. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 1988; 16: 1215.
• 5 Becker J, Schwaab R, Moller-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.
• 6 Bagnall RD, Waseem N, Green PM. et al. Recurrent inversion breaking intron 1 of the factor VIII gene is a frequent cause of severe hemophilia A. Blood 2002; 99: 168-74.
• 7 Ivaskevicius V, Jurgutis R, Rost S. et al. Lithuanian haemophilia A and B registry comprising phenotypic and genotypic data. BrJ Haematol 2001; 112: 1062-70.
• 8 Oldenburg J, Ivaskevicius V, Rost S. et al. Evaluation of DHPLC in the analysis of hemophilia A. J Biochem Biophys Methods 2001; 47: 39-51.
• 9 Citron M, Godmilow L, Ganguly T. et al. High throughput mutation screening of the factor VIII gene (F8C) in hemophilia A: 37 novel mutations and genotype-phenotype correlation. Hum Mutat 2002; 20: 267-74.
• 10 Oldenburg J, Schröder J, Schmitt C. et al. 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.
• 11 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. AmJ Hum Genet 1997; 60: 565-73.
• 12 Schwaab R, Brackmann HH, Meyer C. et al. Haemophilia A: mutation type determines risk of inhibitor formation. Thromb Haemost 1995; 74: 1402-6.
• 13 Antonarakis SE, Rossiter JP, Young M. et al. Factor VIII gene inversions in severe hemophilia A: results of an international consortium study. Blood 1995; 86: 2206-12.
• 14 Bogdanova N, Markoff A, Pollmann H. et al. Spectrum of molecular defects and mutation detection rate in patients with severe hemophilia A. Hum Mutat 2005; 26: 249-54.
• 15 Goodeve AC, Williams I, Bray GL. et al. 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.
• 16 Astermark J, Berntorp E, White GC. et al. The Malmo International Brother Study (MIBS): further support for genetic predisposition to inhibitor development in hemophilia patients. Haemophilia 2001; 07: 267-72.
• 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; 05: 145-54.