412
Views
18
CrossRef citations to date
0
Altmetric
Reviews

Current management of hemophilia B: recommendations, complications and emerging issues

References

  • Furie B, Furie BC. Molecular and cellular biology of blood coagulation. N Engl J Med 1992;326(12):800-6
  • Aronson DL. Factor IX complex. Semin Thromb Hemost 1979;6:28-43
  • Franchini M, Mannucci PM. Past, present and future of hemophilia: a narrative review. Orphanet J Rare Dis 2012;7:24
  • Bolton-Maggs PH, Pasi KJ, Haemophilia A and B. Lancet 2003;361(9371):1801-9
  • Mannucci PM, Tuddenham EG. The hemophilias – from royal genes to gene therapy. N Engl J Med 2001;344(23):1773-9
  • Tagariello G, Iorio A, Santagostino E, et al. Italian Association Hemophilia Centre. Comparison of the rates of joint arthroplasty in patients with severe factor VIII and IX deficiency: an index of different clinical severity of the 2 coagulation disorders. Blood 2009;114(4):779-84
  • Mannucci PM, Franchini M. Is haemophilia B less severe than haemophilia A? Haemophilia 2013;19(4):499-502
  • Santagostino E. Prophylaxis in haemophilia B patients: unresolved issues and pharmacoeconomic implications. Haemophilia 2010;16(Suppl 6):13-17
  • Santagostino E, Manucci PM, Bianchi Bonomi A. Guidelines on replacement therapy for haemophilia and inherited coagulation disorders in Italy. Haemophilia 2000;6(1):1-10
  • Srivastava A, Brewer AK, Mauser-Bunschoten EP, et al. Treatment Guidelines Working Group on Behalf of The World Federation Of Hemophilia. Guidelines for the management of hemophilia. Haemophilia 2013;19(1):e1-e47
  • Franchini M, Frattini F, Crestani S, Bonfanti C. Haemophilia B: current pharmacotherapy and future directions. Expert Opin Pharmacother 2012;13(14):2053-63
  • Franchini M, Frattini F, Crestani S, et al. Treatment of hemophilia B: focus on recombinant factor IX. Biologics 2013;7:33-8
  • Biggs R, Douglas AS, Macfarlane RG, et al. Christmas disease: a condition previously mistaken for haemophilia. Br Med J 1952;2(4799):1378-82
  • Rogaev EI, Grigorenko AP, Faskhutdinova G, et al. Genotype analysis identifies the cause of the "royal disease". Science 2009;326(5954):817
  • Stevens RF. The history of haemophilia in the royal families of Europe. Br J Haematol 1999;105(1):25-32
  • Mannucci PM. Back to the future: a recent history of haemophilia treatment. Haemophilia 2008;14(Suppl 3):10-18
  • Mannucci PM. Hemophilia: treatment options on the twenty-first century. J Thromb Haemost 2003;1(7):1349-55
  • Prevalence of antibody to HIV in haemophiliacs in the United Kingdom: a second survey. AIDS Group of the United Kingdom Haemophilia Centre Directors with the co-operation of the United Kingdom Haemophilia Centre Directors. Clin Lab Haematol 1988;10(2):187-91
  • Kurachi K, Davie EW. Isolation and characterization of a cDNA coding for human factor IX. Proc Natl Acad Sci USA 1982;79(21):6461-4
  • Choo KH, Gould KG, Rees DJ, Brownlee GG. Molecular cloning of the gene for human anti-haemophilic factor IX. Nature 1982;299(5879):178-80
  • Pipe SW. Recombinant clotting factors. Thromb Haemost 2008;99(5):840-50
  • Tagliaferri A, Rivolta GF, Iorio A, et al. Mortality and causes of death in Italian persons with haemophilia, 1990-2007. Haemophilia 2010;16(3):437-46
  • Franchini M, Mannucci PM. Co-morbidities and quality of life in elderly persons with haemophilia. Br J Haematol 2010;148(4):522-33
  • Morfini M, Mannucci PM, Mariani G, et al. Evaluation of prophylactic replacement therapy in haemophilia B. Scand J Haematol 1976;16(1):41-7
  • Nilsson IM, Berntorp E, Lofqvist T, Pettersson H. Twenty-five years’ experience of prophylactic treatment in severe haemophilia A and B. J Intern Med 1992;232(1):25-32
  • Poon MC, Aledort LM, Anderle K, et al. Comparison of the recovery and half-life of a high-purity factor IX concentrate with those of a factor IX complex concentrate. Factor IX Study Group. Transfusion 1995;35(4):319-23
  • Kim HC, McMillan CW, White GC, et al. Purified factor IX using monoclonal immunoaffinity technique: clinical trials in hemophilia B and comparison to prothrombin complex concentrates. Blood 1992;79(3):568-75
  • Lissitchkov T, Matysiak M, Zawilska K, et al. An open clinical study assessing the efficacy and safety of Factor IX Grifols, a high-purity Factor IX concentrate, in patients with severe haemophilia B. Haemophilia 2010;16(2):240-6
  • Lissitchkov T, Matysiak M, Zavilska K, et al. A clinical study assessing the pharmacokinetics, efficacy and safety of AlphaNine, a high-purity factor IX concentrate, in patients with severe haemophilia B. Haemophilia 2011;17(4):590-6
  • Serban M, Skotnicki AB, Colovic M, et al. Clinical efficacy, safety and pharmacokinetic properties of the plasma-derived factor IX concentrate Haemonine in previously treated patients with severe haemophilia B. Haemophilia 2012;18(2):175-81
  • Azzi A, Ciappi S, Zakvrewska K, et al. 19 infection in hemophiliacs first infused with two high-purity, virally attenuated, factor VIII concentrates. Am J Hematol 1992;39(3):228-30
  • Sharp CP, Lail A, Donfield S, et al. Virologic and clinical features of primary infection with human parvovirus 4 in subjects with hemophilia: frequent transmission by virally inactivated clotting factor concentrates. Transfusion 2012;52(7):1482-9
  • Peden A, McCardle L, Head MW, et al. Variant CJD infection in the spleen of a neurologically asymptomatic UK adult patient with haemophilia. Haemophilia 2010;16(2):296-304
  • UKHCDO (United Kingdom Haemophilia Centre Doctors’ Organisation). Guidelines on the selection and use of therapeutic products to treat haemophilia and other hereditary bleeding disorders. Haemophilia 2003;9(1):1-23
  • Roth DA, Kessler CM, Pasi KJ, et al. Human recombinant factor IX: safety and efficacy studies in hemophilia B patients previously treated with plasma-derived factor IX concentrates. Blood 2001;98(13):3600-6
  • Monahan PE, Di Paola J. Recombinant factor IX for clinical and research use. Semin Thromb Hemost 2010;36(5):498-509
  • Shapiro AD, Di Paola J, Cohen A, et al. The safety and efficacy of recombinant human blood coagulation factor IX in previously untreated patients with severe or moderately severe hemophilia B. Blood 2005;105(2):518-25
  • Poon MC, Lillicrap D, Hensman C, et al. Recombinant factor IX recovery and inhibitor safety: a Canadian post-licensure surveillance study. Thromb Haemost 2002;87(3):431-5
  • Bjorkman S, Shapiro AD, Berntorp E. Pharmacokinetics of recombinant factor IX in relation to age of the patient: implications for dosing in prophylaxis. Haemophilia 2001;7(2):133-9
  • Bjorkman S, Folkesson A, Berntorp E. In vivo recovery of factor VIII and factor IX: intra- and interindividual variance in a clinical setting. Haemophilia 2007;13(1):2-8
  • Ewenstein BM, Joist JH, Shapiro AD, et al. Mononine Comparison Study Group. Pharmacokinetic analysis of plasma-derived and recombinant F IX concentrates in previously treated patients with moderate or severe hemophilia B. Transfusion 2002;42(2):190-7
  • Kisker CT, Eisberg A, Schwartz B; Mononine Study Group. Prophylaxis in factor IX deficiency product and patient variation. Haemophilia 2003;9(3):279-84
  • Recht M, Pollmann H, Tagliaferri A, et al. A retrospective study to describe the incidence of moderate to severe allergic reactions to factor IX in subjects with haemophilia B. Haemophilia 2011;17(3):494-9
  • Astermark J, Santagostino E, Keith Hoots W. Clinical issues in inhibitors. Haemophilia 2010;16(Suppl 5):54-60
  • Franchini M, Mannucci PM. Inhibitors of propagation of coagulation (factors VIII, IX and XI): a review of current therapeutic practice. Br J Clin Pharmacol 2011;72(4):553-62
  • DiMichele D. Inhibitor development in haemophilia B: an orphan disease in need of attention. Br J Haematol 2007;138(3):305-15
  • Franchini M, Lippi G, Montagnana M, et al. Anaphylaxis in patients with congenital bleeding disorders and inhibitors. Blood Coagul Fibrinolysis 2009;20(4):225-9
  • DiMichele D. The North American Immune Tolerance Registry: contributions to the thirty-year experience with immune tolerance therapy. Haemophilia 2009;15(1):320-8
  • Chitlur M, Warrier I, Rajpurkar M, Lusher JM. Inhibitors in factor IX deficiency a report of the ISTH-SSC international FIX inhibitor registry (1997-2006). Haemophilia 2009;15(5):1027-31
  • Ewenstein BM, Takemoto C, Warrier I, et al. Nephrotic syndrome as a complication of immune tolerance in hemophilia B. Blood 1997;89(3):1115-16
  • Coppola A, Franchini M, Makris M, et al. Thrombotic adverse events to coagulation factor concentrates for treatment of patients with haemophilia and von Willebrand disease: a systematic review of prospective studies. Haemophilia 2012;18(3):e173-87
  • DiMichele DM, Hoots WK, Pipe SW, et al. International workshop on immune tolerance induction: consensus recommendations. Haemophilia 2007;13(Suppl 1):1-22
  • Collins PW, Chalmers E, Hart DP, et al. UK Haemophilia Centre Doctors. Diagnosis and treatment of factor VIII and IX inhibitors in congenital haemophilia: (4th edition). UK Haemophilia Centre Doctors Organization. Br J Haematol 2013;160(2):153-70
  • Castaman G, Bonetti E, Messina M, et al. Italian Association of Hemophilia Centers. Inhibitors in haemophilia B: the Italian experience. Haemophilia 2013;19(5):686-90
  • Youjin S, Jun Y. The treatment of hemophilia: from protein replacement to AAV-mediated gene therapy. Biotechnol Lett 2009;31(3):321-8
  • Pfeifer A, Verma IM. Gene therapy: promises and problems. Annu Rev Genomics Hum Genet 2001;2:177-211
  • Kelley K, Verma I, Pierce GF. Gene therapy: reality or myth for the global bleeding disorders community? Haemophilia 2002;8(3):261-7
  • Kay MA, Manno CS, Ragni MV, et al. Evidence for gene transfer and expression of factor IX in haemophilia B patients treated with an AAV vector. Nat Genet 2000;24(3):257-61
  • Manno CS, Pierce GF, Arruda VR, et al. Successful transduction of liver in hemophilia by AAV-Factor IX and limitations imposed by the host immune response. Nat Med 2006;12(3):342-7
  • High KA. Update on progress and hurdles in novel genetic therapies for hemophilia. Hematology Am Soc Hematol Educ Program 2007;2007:466-72
  • Nathwani A, Tuddenham EG, Rangarajan S, et al. Adenovirus-associated virus vector-mediated gene transfer in hemophilia B. N Engl J Med 2011;365(25):2357-65
  • Mannucci PM, Franchini M. Present and future challanges in the treatment of haemophilia: a clinician’s perspective. Blood Transfus 2013;11(Suppl 4):s77-81
  • Peyvandi F, Garagiola I, Seregni S. Future of coagulation factor replacement therapy. J Thromb Haemost 2013;11(Suppl 1):84-98
  • Kaufman RJ, Powell JS. Molecular approaches for improved clotting factors for hemophilia. Hematology Am Soc Hematol Educ Program 2013;2013(1):30-6
  • Ostergaard H, Bjelke JR, Hansen L, et al. Prolonged half-life and preserved enzymatic properties of factor IX selectively PEGylated on native N-glycans in the activation peptide. Blood 2011;118(8):2333-41
  • Safety of 40K pegylated recombinant factor IX in non-bleeding patients with haemophilia B. Available from: http://clinicaltrials.gov/show/NCT00956345
  • Negrier C, Knobe K, Tiede A, et al. Enhanced pharmacokinetic properties of a glycoPEGylated recombinant factor IX: a first human dose trial in patients with hemophilia B. Blood 2011;118(10):2695-701
  • Collins PW, Moss J, Knobe K, et al. Population pharmacokinetic modeling for dose setting of nonacog beta pegol (N9-GP), a glycoPEGylated recombinant factor IX. J Thromb Haemost 2012;10(11):2305-12
  • Collins PW, Colberg T, Young G, et al. Safety, efficacy and pharmacokinetics of nonacog beta pegol (N9-GP) for prophylaxis and treatment of bleeding episodes in patients with haemophilia B. J Thromb Haemost 2013;11(Suppl 2):19; abstract AS 12.4
  • Valentino LA. Recombinant FIXFc: a novel therapy for the royal disease? Expert Opin Biol Ther 2011;11(10):1361-8
  • Peters RT, Low SC, Kamphaus GD, et al. Prolonged activity of factor IX as a monomeric Fc fusion protein. Blood 2010;115(10):2057-64
  • Phase I/IIa study of FIXFc in hemophilia B patients. Available from: http://clinicaltrials.gov/show/NCT00716716
  • Shapiro AD, Ragni MV, Valentino LA, et al. Recombinant factor IX-Fc fusion protein (rFIXFc) demonstrates safety and prolonged activity in a phase 1/2a study in hemophilia B patients. Blood 2012;119(3):666-72
  • Study of recombinant factor IX Fc fusion protein (rFIXFc) in subjects with hemophilia B. Available from: www.clinicaltrials.gov/show/NCT01027364
  • Powell JS, Pasi KJ, Ragni MV, et al. Phase 3 study of recombinant factor IX Fc fusion protein in hemophilia B. N Engl J Med 2013;369(24):2313-23
  • Metzner HJ, Weimer T, Kronthaler U, et al. Genetic fusion to albumin improves the pharmacokinetic properties of factor IX. Thromb Haemost 2009;102(4):634-44
  • Santagostino E, Negrier C, Klamroth R, et al. Safety and pharmacokinetics of a novel recombinant fusion protein linking coagulation factor IX with albumin (rIX-FP) in hemophilia B patients. Blood 2012;120(12):2405-11
  • Martinowitz U, Lubetsky A, Santagostino E, et al. Efficacy, PK and safety results of a Phase I/II clinical study of recombinant fusion protein linking coagulation factor IX with albumin (rIX-FP) in previously treated patients with hemophilia B. J Thromb Haemost 2013;11(Suppl 2):240-1; abstract OC 70.2
  • Hubbard AR. International biological standards for coagulation factors and inhibitors. Semin Thromb Hemost 2007;33(3):283-9
  • Hubbard AR, Dodt J, Lee T, et al. Recommendations on the potency labelling of factor VIII and factor IX concentrates. J Thromb Haemost 2013;11(5):988-9

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.