Hemofilia

Referências

Principais artigos

Srivastava A, Santagostino E, Dougall A, et al. WFH guidelines for the management of hemophilia, 3rd edition. Haemophilia. 2020 Aug;26 Suppl 6:1-158.Texto completo  Resumo

Collins PW, Chalmers E, Hart DP, et al. Diagnosis and treatment of factor VIII and IX inhibitors in congenital haemophilia: 4th edition. Br J Haematol. 2013 Jan;160(2):153-70.Texto completo  Resumo

National Hemophilia Foundation Medical and Scientific Advisory Council (MASAC). Guidelines for emergency department management of individuals with hemophilia and other bleeding disorders. Dec 2019 [internet publication].Texto completo

National Hemophilia Foundation Medical and Scientific Advisory Council (MASAC). MASAC document 272 - MASAC recommendations concerning products licensed for the treatment of hemophilia and other bleeding disorders. Apr 2022 [internet publication].Texto completo

Tiede A, Collins P, Knoebl P, et al. International recommendations on the diagnosis and treatment of acquired hemophilia A. Haematologica. 2020 Jul;105(7):1791-801.Texto completo  Resumo

Artigos de referência

1. Blanchette VS, Key NS, Ljung LR, et al. Definitions in hemophilia: communication from the SSC of the ISTH. J Thromb Haemost. 2014 Nov;12(11):1935-9.Texto completo  Resumo

2. White GC 2nd, 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 Mar;85(3):560. Resumo

3. Knoebl P, Marco P, Baudo F, et al. Demographic and clinical data in acquired hemophilia A: results from the European Acquired Haemophilia Registry (EACH2). J Thromb Haemost. 2012 Apr;10(4):622-31.Texto completo  Resumo

4. Soucie JM, Miller CH, Dupervil B, et al. Occurrence rates of haemophilia among males in the United States based on surveillance conducted in specialized haemophilia treatment centres. Haemophilia. 2020 May;26(3):487-93.Texto completo  Resumo

5. Centers for Disease Control and Prevention. Data & statistics on hemophilia. Sep 2020 [internet publication].Texto completo

6. World Federation of Hemophilia. Report on the annual global survey, 2017. Oct 2018 [internet publication].Texto completo

7. Pruthi RK. Hemophilia: a practical approach to genetic testing. Mayo Clin Proc. 2005 Nov;80(11):1485-99. Resumo

8. Collins PW, Hirsch S, Baglin TP, et al. Acquired hemophilia A in the United Kingdom: a 2-year national surveillance study by the United Kingdom Haemophilia Centre Doctors' Organisation. Blood. 2007 Mar 1;109(5):1870-7.Texto completo  Resumo

9. Peyvandi F, Jayandharan G, Chandy M, et al. Genetic diagnosis of haemophilia and other inherited bleeding disorders. Haemophilia. 2006 Jul;12 Suppl 3:82-9. Resumo

10. Leuer M, Oldenburg J, Lavergne JM, et al. Somatic mosaicism in hemophilia A: a fairly common event. Am J Hum Genet. 2001 Jul;69(1):75-87.Texto completo  Resumo

11. Graw J, Brackmann HH, Oldenburg J, et al. Haemophilia A: from mutation analysis to new therapies. Nat Rev Genet. 2005 Jun;6(6):488-501. Resumo

12. Antonarakis SE, Kazazian HH, Tuddenham EG. Molecular etiology of factor VIII deficiency in hemophilia A. Hum Mutat. 1995;5(1):1-22. Resumo

13. Goodeve AC, Peake IR. The molecular basis of hemophilia A: genotype-phenotype relationships and inhibitor development. Semin Thromb Hemost. 2003 Feb;29(1):23-30. Resumo

14. Centers for Disease Control and Prevention. CDC hemophilia mutation project (CHAMP & CHBMP). Jul 2020 [internet publication].Texto completo

15. Tengborn L, Baudo F, Huth-Kühne A, et al. Pregnancy-associated acquired haemophilia A: results from the European Acquired Haemophilia (EACH2) registry. BJOG. 2012 Nov;119(12):1529-37. Resumo

16. Pinchover LB, Alsharif R, Bernal T. Acquired haemophilia a secondary to multiple myeloma: management of a patient with a mechanical mitral valve. BMJ Case Rep. 2020 Sep 6;13(9):e230798. Resumo

17. Dewarrat N, Gavillet M, Angelillo-Scherrer A, et al. Acquired haemophilia A in the postpartum and risk of relapse in subsequent pregnancies: a systematic literature review. Haemophilia. 2021 Mar;27(2):199-210. Resumo

18. Monroe DM, Hoffman M. What does it take to make the perfect clot? Arterioscler Thromb Vasc Biol. 2006 Jan;26(1):41-8.Texto completo  Resumo

19. Oldenburg J, Pavlova A. Genetic risk factors for inhibitors to factors VIII and IX. Haemophilia. 2006 Dec;12 Suppl 6:15-22. Resumo

20. Oldenburg J, Schroder J, Brackmann HH, et al. Environmental and genetic factors influencing inhibitor development. Semin Hematol. 2004 Jan;41(1 Suppl 1):82-8. Resumo

21. Schwaab R, Brackmann HH, Meyer C, et al. Haemophilia A: mutation type determinates risk of inhibitor formation. Thromb Haemost. 1995 Dec;74(6):1402-6. Resumo

22. Astermark J, Berntorp E, White GC, et al; MIBS Study Group. The Malmo International Brother Study (MIBS): further support for genetic predisposition to inhibitor development in hemophilia patients. Haemophilia. 2001 May;7(3):267-72. Resumo

23. Astermark J, Oldenburg J, Escobar M, et al; Malmo International Brother Study Group. The Malmo International Brother Study (MIBS): genetic defects and inhibitor development in siblings with severe hemophilia A. Haematologica. 2005 Jul;90(7):924-31.Texto completo  Resumo

24. Gill JC. The role of genetics in inhibitor formation. Thromb Haemost. 1999 Aug;82(2):500-4. Resumo

25. National Hemophilia Foundation Medical and Scientific Advisory Council (MASAC). MASAC document 264 - MASAC recommendations regarding diagnosis and management of inherited bleeding disorders in girls and women with personal and family history of bleeding. Mar 2021 [internet publication].Texto completo

26. Shittu OB, Shokunbi WA. Circumcision in haemophiliacs: the Nigerian experience. Haemophilia. 2001 Sep;7(5):534-6. Resumo

27. Kulkarni R, Lusher JM. Intracranial and extracranial hemorrhages in newborns with hemophilia: a review of the literature. J Pediatr Hematol Oncol. 1999 Jul-Aug;21(4):289-95. Resumo

28. Tarantino MD, Gupta SL, Brusky RM. The incidence and outcome of intracranial haemorrhage in newborns with haemophilia: analysis of the Nationwide Inpatient Sample database. Haemophilia. 2007 Jul;13(4):380-2. Resumo

29. Ljung RC. Intracranial haemorrhage in haemophilia A and B. Br J Haematol. 2008 Feb;140(4):378-84. Resumo

30. Nagel K, Pai MK, Paes BA, et al. Diagnosis and treatment of intracranial hemorrhage in children with hemophilia. Blood Coagul Fibrinolysis. 2013 Jan;24(1):23-7. Resumo

31. Konkle BA, Huston H, Fletcher SN, et al. Hemophilia A. In: Adam MP, Mirzaa GM, Pagon RA, et al, eds. GeneReviews [Internet]. Seattle (WA): University of Washington, Seattle; 2000.Texto completo  Resumo

32. Konkle BA, Huston H, Fletcher SN, et al. Hemophilia B. In: Adam MP, Mirzaa GM, Pagon RA, et al, eds. GeneReviews [Internet]. Seattle (WA): University of Washington, Seattle; 2000.Texto completo  Resumo

33. Soucie JM, Monahan PE, Kulkarni R, et al. The frequency of joint hemorrhages and procedures in nonsevere hemophilia A vs B. Blood Adv. 2018 Aug 28;2(16):2136-44.Texto completo  Resumo

34. Arnold WD, Hilgartner MW. Hemophilic arthropathy: current concepts of pathogenesis and management. J Bone Joint Surg Am. 1977 Apr;59(3):287-305. Resumo

35. Warrier I. Antibodies to factor IX. Haematologica. 2000 Oct;85(10 Suppl):31-3. Resumo

36. Srivastava A, Santagostino E, Dougall A, et al. WFH guidelines for the management of hemophilia, 3rd edition. Haemophilia. 2020 Aug;26 Suppl 6:1-158.Texto completo  Resumo

37. Astermark J. Basic aspects of inhibitors to factors VIII and IX and the influence of non-genetic risk factors. Haemophilia. 2006 Dec;12 Suppl 6:8-13. Resumo

38. Lee CA, Lillicrap D, Astermark J. Inhibitor development in hemophiliacs: the roles of genetic versus environmental factors. Semin Thromb Hemost. 2006 Jun;32(2 suppl):10-4. Resumo

39. 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 May;5(3):145-54. Resumo

40. Hay CR, Ludlam CA, Colvin BT, et al. Factor VIII inhibitors in mild and moderate-severity haemophilia A. Thromb Haemost. 1998 Apr;79(4):762-6. Resumo

41. National Heart, Lung, and Blood Institute. The diagnosis, evaluation, and management of von Willebrand Disease. Dec 2007 [internet publication].Texto completo

42. Favaloro EJ. The utility of PFA-100 in the identification of von Willebrand disease: a concise review. Semin Thromb Hemost. 2006 Jul;32(5):537-45. Resumo

43. Cariappa R, Wilhite TR, Parvin CA, et al. Comparison of PFA-100 and bleeding time testing in pediatric patients with suspected hemorrhagic problems. J Pediatr Hematol Oncol. 2003 Jun;25(6):474-9. Resumo

44. Nurden AT. Qualitative disorders of platelets and megakaryocytes. J Thromb Haemost. 2005 Aug;3(8):1773-82.Texto completo  Resumo

45. Astermark J, Donfield SM, Gomperts ED, et al. The polygenic nature of inhibitors in hemophilia A: results from the Hemophilia Inhibitor Genetics Study (HIGS) combined cohort. Blood. 2013 Feb 21;121(8):1446-54.Texto completo  Resumo

46. Lochan A, Macaulay S, Chen WC, et al. Genetic factors influencing inhibitor development in a cohort of South African haemophilia A patients. Haemophilia. 2014 Sep;20(5):687-92. Resumo

47. Iorio A, Halimeh S, Holzhauer S, et al. Rate of inhibitor development in previously untreated hemophilia A patients treated with plasma-derived or recombinant factor VIII concentrates: a systematic review. J Thromb Haemost. 2010 Jun;8(6):1256-65.Texto completo  Resumo

48. Gouw SC, van der Bom JG, Ljung R, et al; PedNet and RODIN Study Group. Factor VIII products and inhibitor development in severe hemophilia A. N Engl J Med. 2013 Jan 17;368(3):231-9.Texto completo  Resumo

49. Peyvandi F, Mannucci PM, Garagiola I, et al. A randomized trial of factor VIII and neutralizing antibodies in hemophilia A. N Engl J Med. 2016 May 26;374(21):2054-64.Texto completo  Resumo

50. National Hemophilia Foundation Medical and Scientific Advisory Council (MASAC). MASAC recommendation on SIPPET (Survey of Inhibitors in Plasma-Product-Exposed Toddlers): results and recommendations for treatment products for previously untreated patients with hemophilia A. Jun 2016 [internet publication].Texto completo

51. Verbruggen B. Diagnosis and quantification of factor VIII inhibitors. Haemophilia. 2010 May;16(102):20-4.Texto completo  Resumo

52. Miller CH, Boylan B, Shapiro AD, et al. Limit of detection and threshold for positivity of the Centers for Disease Control and Prevention assay for factor VIII inhibitors. J Thromb Haemost. 2017 Oct;15(10):1971-6.Texto completo  Resumo

53. Miller CH, Rice AS, Boylan B, et al. Comparison of clot-based, chromogenic and fluorescence assays for measurement of factor VIII inhibitors in the US Hemophilia Inhibitor Research Study. J Thromb Haemost. 2013 Oct;11(7):1300-9.Texto completo  Resumo

54. National Hemophilia Foundation Medical and Scientific Advisory Council (MASAC). MASAC document 265 - MASAC guidelines for pregnancy and perinatal management of women with inherited bleeding disorders and carriers of hemophilia A or B. Mar 2021 [internet publication].Texto completo

55. United Kingdom Haemophilia Centres Doctor's Organisation. Clinical genetics services for haemophilia. 2018 [internet publication].Texto completo

56. Park JS, Ryu KN. Hemophilic pseudotumor involving the musculoskeletal system: spectrum of radiologic findings. AJR Am J Roentgenol. 2004 Jul;183(1):55-61.Texto completo  Resumo

57. National Hemophilia Foundation Medical and Scientific Advisory Council (MASAC). MASAC document 268 - recommendation on the use and management of emicizumab-kxwh (Hemlibra®) for hemophilia A with and without inhibitors. Apr 2022 [internet publication].Texto completo

58. James PD, Connell NT, Ameer B, et al. ASH ISTH NHF WFH 2021 guidelines on the diagnosis of von Willebrand disease. Blood Adv. 2021 Jan 12;5(1):280-300.Texto completo  Resumo

59. Collins PW, Chalmers E, Hart DP, et al. Diagnosis and treatment of factor VIII and IX inhibitors in congenital haemophilia: 4th edition. Br J Haematol. 2013 Jan;160(2):153-70.Texto completo  Resumo

60. Brown DL. Congenital bleeding disorders. Curr Probl Pediatr Adolesc Health Care. 2005 Feb;35(2):38-62. Resumo

61. Rodriguez NI, Hoots WK. Advances in hemophilia: experimental aspects and therapy. Pediatr Clin North Am. 2008 Apr;55(2):357-76. Resumo

62. Warrier I. Management of haemophilia B patients with inhibitors and anaphylaxis. Haemophilia. 1998 Jul;4(4):574-6.Texto completo  Resumo

63. Hay CR, Baglin TP, Collins PW, et al. The diagnosis and management of factor VIII and IX inhibitors: a guideline from the UK Haemophilia Centre Doctors' Organization (UKHCDO). Br J Haematol. 2000 Oct;111(1):78-90.Texto completo  Resumo

64. National Hemophilia Foundation Medical and Scientific Advisory Council (MASAC). MASAC document 271 - Recommendation on administration of inhibitor bypassing agents in the home for patients with hemophilia and inhibitors. Apr 2022 [internet publication].Texto completo

65. National Hemophilia Foundation Medical and Scientific Advisory Council (MASAC). MASAC document 267 - MASAC recommendation concerning prophylaxis for hemophilia A and B with and without inhibitors. Apr 2022 [internet publication].Texto completo

66. Negrier C, Goudemand J, Sultan Y, et al. Multicenter retrospective study on the utilization of FEIBA in France in patients with factor VIII and factor IX inhibitors. Thromb Haemost. 1997 Jun;77(6):1113-9. Resumo

67. Key NS, Aledort LM, Beardsley D, et al. Home treatment of mild to moderate bleeding episodes using recombinant factor VIIa (Novoseven) in haemophiliacs with inhibitors. Thromb Haemost. 1998 Dec;80(6):912-8. Resumo

68. Astermark J, Donfield SM, DiMichele DM, et al. A randomized comparison of bypassing agents in hemophilia complicated by an inhibitor: the FEIBA NovoSeven Comparative (FENOC) Study. Blood. 2007 Jan 15;109(2):546-51.Texto completo  Resumo

69. Ehrlich HJ, Henzl MJ, Gomperts ED. Safety of factor VIII inhibitor bypass activity (FEIBA): 10-year compilation of thrombotic adverse events. Haemophilia. 2002 Mar;8(2):83-90. Resumo

70. National Hemophilia Foundation Medical and Scientific Advisory Council (MASAC). Guidelines for emergency department management of individuals with hemophilia and other bleeding disorders. Dec 2019 [internet publication].Texto completo

71. Dunn AL, Busch MT, Wyly JB, et al. Radionuclide synovectomy for hemophilic arthropathy: a comprehensive review of safety and efficacy and recommendation for a standarized treatment protocol. Thromb Haemost. 2002 Mar;87(3):383-93. Resumo

72. National Hemophilia Foundation Medical and Scientific Advisory Council (MASAC). MASAC document 272 - MASAC recommendations concerning products licensed for the treatment of hemophilia and other bleeding disorders. Apr 2022 [internet publication].Texto completo

73. Matino D, Makris M, Dwan K, et al. Recombinant factor VIIa concentrate versus plasma-derived concentrates for treating acute bleeding episodes in people with haemophilia and inhibitors. Cochrane Database Syst Rev. 2015 Dec 16;(12):CD004449.Texto completo  Resumo

74. Kruse-Jarres R, St-Louis J, Greist A, et al. Efficacy and safety of OBI-1, an antihaemophilic factor VIII (recombinant), porcine sequence, in subjects with acquired haemophilia A. Haemophilia. 2015 Mar;21(2):162-70. Resumo

75. Tiede A, Collins P, Knoebl P, et al. International recommendations on the diagnosis and treatment of acquired hemophilia A. Haematologica. 2020 Jul;105(7):1791-801.Texto completo  Resumo

76. D'Arena G, Grandone E, Di Minno MN, et al. Acquired hemophilia a successfully treated with rituximab. Mediterr J Hematol Infect Dis. 2015 Mar 1;7(1):e2015024.Texto completo  Resumo

77. Collins P, Baudo F, Knoebl P, et al. Immunosuppression for acquired hemophilia A: results from the European Acquired Haemophilia Registry (EACH2). Blood. 2012 Jul 5;120(1):47-55.Texto completo  Resumo

78. Rayment R, Chalmers E, Forsyth K, et al. Guidelines on the use of prophylactic factor replacement for children and adults with haemophilia A and B. Br J Haematol. 2020 Sep;190(5):684-95.Texto completo  Resumo

79. Berntorp E, Astermark J, Bjorkman S, et al. Consensus perspectives on prophylactic therapy for haemophilia: summary statement. Haemophilia. 2003 May;9 Suppl 1:1-4. Resumo

80. Gringeri A, Lundin B, von Mackensen S, et al. A randomized clinical trial of prophylaxis in children with hemophilia A (the ESPRIT Study). J Thromb Haemost. 2011 Apr;9(4):700-10.Texto completo  Resumo

81. Nilsson IM, Berntorp E, Löfqvist T, et al. Twenty-five years' experience of prophylactic treatment in severe haemophilia A and B. J Intern Med. 1992 Jul;232(1):25-32. Resumo

82. Manco-Johnson MJ, Abshire TC, Shapiro AD, et al. Prophylaxis versus episodic treatment to prevent joint disease in boys with severe hemophilia. N Engl J Med. 2007 Aug 9;357(6):535-44.Texto completo  Resumo

83. Poon M-C, Lee A. Individualized prophylaxis for optimizing hemophilia care: can we apply this to both developed and developing nations? Thrombosis J. 2016;14(suppl 1):32.Texto completo

84. Oldenburg J. Optimal treatment strategies for hemophilia: achievements and limitations of current prophylactic regimens. Blood. 2015 Mar 26;125(13):2038-44.Texto completo  Resumo

85. Jiménez-Yuste V, Auerswald G, Benson G, et al. Achieving and maintaining an optimal trough level for prophylaxis in haemophilia: the past, the present and the future. Blood Transfus. 2014 Jul;12(3):314-9.Texto completo  Resumo

86. Mancuso ME, Santagostino E. Outcome of clinical trials with new extended half-life FVIII/IX concentrates. J Clin Med. 2017 Mar 28;6(4).Texto completo  Resumo

87. Mahlangu J, Oldenburg J, Paz-Priel I, et al. Emicizumab prophylaxis in patients who have hemophilia A without inhibitors. N Engl J Med. 2018 Aug 30;379(9):811-22.Texto completo  Resumo

88. Oldenburg J, Mahlangu JN, Kim B, et al. Emicizumab prophylaxis in hemophilia A with inhibitors. N Engl J Med. 2017 Aug 31;377(9):809-18.Texto completo  Resumo

89. Oldenburg J, Mahlangu JN, Bujan W, et al. The effect of emicizumab prophylaxis on health-related outcomes in persons with haemophilia A with inhibitors: HAVEN 1 Study. Haemophilia. 2019 Jan;25(1):33-44. Resumo

90. Nogami K, Shima M. New therapies using nonfactor products for patients with hemophilia and inhibitors. Blood. 2019 Jan 31;133(5):399-406. Resumo

91. DiMichele DM, Hoots WK, Pipe SW, et al. International workshop on immune tolerance induction: consensus recommendations. Haemophilia. 2007 Jul;13 Suppl 1:1-22.Texto completo  Resumo

92. Hay CR, DiMichele DM; International Immune Tolerance Study. The principal results of the International Immune Tolerance Study: a randomized dose comparison. Blood. 2012 Feb 9;119(6):1335-44.Texto completo  Resumo

93. Athale AH, Marcucci M, Iorio A. Immune tolerance induction for treating inhibitors in people with congenital haemophilia A or B. Cochrane Database Syst Rev. 2014 Apr 24;(4):CD010561.Texto completo  Resumo

94. Lim MY, Nielsen B, Lee K, et al. Rituximab as first-line treatment for the management of adult patients with non-severe hemophilia A and inhibitors. J Thromb Haemost. 2014 Jun;12(6):897-901.Texto completo  Resumo

95. Chai-Adisaksopha C, Nevitt SJ, Simpson ML, et al. Bypassing agent prophylaxis in people with hemophilia A or B with inhibitors. Cochrane Database Syst Rev. 2017 Sep 25;(9):CD011441.Texto completo  Resumo

96. US Food and Drug Administration. FDA drug safety communication: FDA restricts use of prescription codeine pain and cough medicines and tramadol pain medicines in children; recommends against use in breastfeeding women. Apr 2017 [internet publication].Texto completo

97. Medicines and Healthcare products Regulatory Agency. Codeine: restricted use as analgesic in children and adolescents after European safety review. Dec 2014 [internet publication].Texto completo

98. European Medicines Agency. Restrictions on use of codeine for pain relief in children - CMDh endorses PRAC recommendation. Jun 2013 [internet publication].Texto completo

99. Richards M, Williams M, Chalmers E, et al. A United Kingdom Haemophilia Centre Doctors' Organization guideline approved by the British Committee for Standards in Haematology: guideline on the use of prophylactic factor VIII concentrate in children and adults with severe haemophilia A. Br J Haematol. 2010 May;149(4):498-507.Texto completo  Resumo

100. Négrier C. Entering new areas in known fields: recombinant fusion protein linking recombinant factor VIIa with recombinant albumin (rVIIa-FP): advancing the journey. Thromb Res. 2016 May;141 Suppl 3:S9-12.Texto completo  Resumo

101. Bar-Ilan A, Livnat T, Hoffmann M, et al. In vitro characterization of MOD-5014, a novel long-acting carboxy-terminal peptide (CTP)-modified activated FVII. Haemophilia. 2018 May;24(3):477-86.Texto completo  Resumo

102. Konkle BA, Shapiro AD, Quon DV, et al. BIVV001 fusion protein as factor VIII replacement therapy for hemophilia A. N Engl J Med. 2020 Sep 10;383(11):1018-27.Texto completo  Resumo

103. Nolan B, Mahlangu J, Pabinger I, et al. Recombinant factor VIII Fc fusion protein for the treatment of severe haemophilia A: final results from the ASPIRE extension study. Haemophilia. 2020 May;26(3):494-502.Texto completo  Resumo

104. Nolan B, Klukowska A, Shapiro A, et al. Final results of the PUPs B-LONG study: evaluating safety and efficacy of rFIXFc in previously untreated patients with hemophilia B. Blood Adv. 2021 Jul 13;5(13):2732-9.Texto completo  Resumo

105. Young G, Mahlangu J, Kulkarni R, et al. Recombinant factor VIII Fc fusion protein for the prevention and treatment of bleeding in children with severe hemophilia A. J Thromb Haemost. 2015 Jun;13(6):967-77.Texto completo  Resumo

106. Collins PW, Young G, Knobe K, et al. Recombinant long-acting glycoPEGylated factor IX in hemophilia B: a multinational randomized phase 3 trial. Blood. 2014 Dec 18;124(26):3880-6.Texto completo  Resumo

107. Nathwani AC, Reiss UM, Tuddenham EG, et al. Long-term safety and efficacy of factor IX gene therapy in hemophilia B. N Engl J Med. 2014 Nov 20;371(21):1994-2004.Texto completo  Resumo

108. George LA, Sullivan SK, Giermasz A, et al. Hemophilia B gene therapy with a high-specific-activity factor IX variant. N Engl J Med. 2017 Dec 7;377(23):2215-27.Texto completo  Resumo

109. ClinicalTrials.gov. HOPE-B: trial of AMT-061 in severe or moderately severe hemophilia B patients. Mar 2022 [internet publication].Texto completo

110. Pipe S W, Leebeek FW, Recht M, et al. 52 week efficacy and safety of etranacogene dezaparvovec in adults with severe or moderate-severe hemophilia B: data from the phase 3 HOPE-B gene therapy trial [abstract]. Res Pract Thromb Haemost. 2021; 5 (suppl 2):PB0653.Texto completo

111. Ward NJ, Buckley SM, Waddington SN, et al. Codon optimization of human factor VIII cDNAs leads to high-level expression. Blood. 2011 Jan 20;117(3):798-807.Texto completo  Resumo

112. Bunting S, Zhang L, Xie L, et al. Gene therapy with BMN 270 results in therapeutic levels of FVIII in mice and primates and normalization of bleeding in hemophilic mice. Mol Ther. 2018 Feb 7;26(2):496-509.Texto completo  Resumo

113. Rangarajan S, Walsh L, Lester W, et al. AAV5-factor VIII gene transfer in severe hemophilia A. N Engl J Med. 2017 Dec 28;377(26):2519-30.Texto completo  Resumo

114. Pasi KJ, Rangarajan S, Mitchell N, et al. Multiyear follow-up of AAV5-hFVIII-SQ gene therapy for hemophilia A. N Engl J Med. 2020 Jan 2;382(1):29-40.Texto completo  Resumo

115. Pasi K, Rangarajan S, Robinson TM, et al. Hemostatic response is maintained for up to 5 years following treatment with valoctocogene roxaparvovec, an AAV5-hFVIII-SQ gene therapy for severe hemophilia A [abstract]. Res Pract Thromb Haemost. 2021; 5 (2 suppl):OC 67.1.Texto completo

116. Arruda VR. Why is AAV FVIII gene therapy not approved by the US Food and Drug Administration yet? Blood Adv. 2021 Oct 26;5(20):4313.Texto completo  Resumo

117. Ozelo MC, Mahlangu J, Pasi KJ, et al. Valoctocogene roxaparvovec gene therapy for hemophilia A. N Engl J Med. 2022 Mar 17;386(11):1013-25. Resumo

118. George LA, Monahan PE, Eyster ME, et al. Multiyear factor VIII expression after AAV gene transfer for hemophilia A. N Engl J Med. 2021 Nov 18;385(21):1961-73.Texto completo  Resumo

119. ClinicalTrials.gov. Study to evaluate the efficacy and safety of PF-07055480/giroctocogene fitelparvovec gene therapy in moderately severe to severe hemophilia A adults (AFFINE). Apr 2020 [internet publication].Texto completo

120. Sehgal A, Barros S, Ivanciu L, et al. An RNAi therapeutic targeting antithrombin to rebalance the coagulation system and promote hemostasis in hemophilia. Nat Med. 2015 May;21(5):492-7. Resumo

121. Srivastava A, Rangarajan S, Kavakli K, et al. Fitusiran, an investigational siRNA therapeutic targeting antithrombin for the treatment of hemophilia: first results from a phase 3 study to evaluate efficacy and safety in people with hemophilia a or B without inhibitors (ATLAS-A/B). Blood. 2021 Dec 4; 138 (suppl 2): LBA-3.Texto completo

122. Chowdary P, Lethagen S, Friedrich U, et al. Safety and pharmacokinetics of anti-TFPI antibody (concizumab) in healthy volunteers and patients with hemophilia: a randomized first human dose trial. J Thromb Haemost. 2015 May;13(5):743-54.Texto completo  Resumo

123. ClinicalTrials.gov. A trial evaluating the efficacy and safety of prophylactic administration of concizumab in haemophilia A and B patients with inhibitors (explorer™4). Oct 2021 [internet publication].Texto completo

124. ClinicalTrials.gov. A trial evaluating efficacy and safety of prophylactic administration of concizumab in patients with severe haemophilia A without inhibitors (explorer™5). Nov 2021 [internet publication].Texto completo

125. ClinicalTrials.gov. Research study to look at how well the drug concizumab works in your body if you have haemophilia without inhibitors (explorer8). Jun 2022 [internet publication].Texto completo

126. ClinicalTrials.gov. Research study to look at how well the drug concizumab works in your body if you have haemophilia with inhibitors (explorer7). Mar 2022 [internet publication].Texto completo

127. Shapiro AD, Angchaisuksiri P, Astermark J, et al. Subcutaneous concizumab prophylaxis in hemophilia A and hemophilia A/B with inhibitors: phase 2 trial results. Blood. 2019 Nov 28;134(22):1973-82.Texto completo  Resumo

128. Shapiro AD. Concizumab: a novel anti-TFPI therapeutic for hemophilia. Blood Adv. 2021 Jan 12;5(1):279.Texto completo  Resumo

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