血友病

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.全文  摘要

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.全文  摘要

National Hemophilia Foundation Medical and Scientific Advisory Council (MASAC). MASAC Document 280 - MASAC recommendations concerning products licensed for the treatment of hemophilia and selected disorders of the coagulation system. Aug 2023 [internet publication].全文

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].全文

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.全文  摘要

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.全文  摘要

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. 摘要

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.全文  摘要

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.全文  摘要

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

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

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

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.全文  摘要

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. 摘要

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.全文  摘要

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. 摘要

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

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. 摘要

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

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. 摘要

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. 摘要

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. 摘要

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

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

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. 摘要

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. 摘要

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. 摘要

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.全文  摘要

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

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].全文

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

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. 摘要

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. 摘要

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

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. 摘要

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.全文  摘要

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.全文  摘要

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.全文  摘要

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

35. National Hemophilia Foundation Medical and Scientific Advisory Council (MASAC). MASAC Document 273 - Recommendations on Genotyping for Persons with Hemophilia. Jul 2022 [internet publication].全文

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

37. Warrier I, Ewenstein BM, Koerper MA, et al. Factor IX inhibitors and anaphylaxis in hemophilia B. J Pediatr Hematol Oncol. 1997 Jan-Feb;19(1):23-7. 摘要

38. 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.全文  摘要

39. 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. 摘要

40. 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. 摘要

41. 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. 摘要

42. 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. 摘要

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

44. 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. 摘要

45. 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. 摘要

46. Nurden AT. Qualitative disorders of platelets and megakaryocytes. J Thromb Haemost. 2005 Aug;3(8):1773-82.全文  摘要

47. 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.全文  摘要

48. 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. 摘要

49. Platokouki H, Fischer K, Gouw SC, et al. Vaccinations are not associated with inhibitor development in boys with severe haemophilia A. Haemophilia. 2018 Mar;24(2):283-90. 摘要

50. National Hemophilia Foundation Medical and Scientific Advisory Council (MASAC). MASAC Document 278 - MASAC recommendations on administration of vaccines to individuals with bleeding disorders. May 2023 [internet publication].全文

51. 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.全文  摘要

52. 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.全文  摘要

53. 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.全文  摘要

54. 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].全文

55. Verbruggen B. Diagnosis and quantification of factor VIII inhibitors. Haemophilia. 2010 May;16(102):20-4.全文  摘要

56. 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.全文  摘要

57. 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.全文  摘要

58. 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].全文

59. United Kingdom Haemophilia Centres Doctor's Organisation. Clinical genetics services for haemophilia. 2018 [internet publication].全文

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

61. 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].全文

62. 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.全文  摘要

63. 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.全文  摘要

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

65. Warrier I. Management of haemophilia B patients with inhibitors and anaphylaxis. Haemophilia. 1998 Jul;4(4):574-6.全文  摘要

66. 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.全文  摘要

67. National Hemophilia Foundation Medical and Scientific Advisory Council (MASAC). MASAC Document 274 - Recommendation on administration of inhibitor bypassing agents in the home for patients with hemophilia and inhibitors. Sept 2022 [internet publication].全文

68. 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].全文

69. National Hemophilia Foundation Medical and Scientific Advisory Council (MASAC). MASAC Document 280 - MASAC recommendations concerning products licensed for the treatment of hemophilia and selected disorders of the coagulation system. Aug 2023 [internet publication].全文

70. 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. 摘要

71. 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. 摘要

72. 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.全文  摘要

73. 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. 摘要

74. 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].全文

75. Tena-Sanabria ME, Rojas-Sato YF, Castañeda-Resendiz JC, et al. Treatment with radiosynoviorthesis in hemophilic patients with and without inhibitor. BMC Pediatr. 2020 Apr 20;20(1):173.全文  摘要

76. van Vulpen LFD, Thomas S, Keny SA, et al. Synovitis and synovectomy in haemophilia. Haemophilia. 2021 Feb;27 Suppl 3(suppl 3):96-102.全文  摘要

77. National Hemophilia Foundation Medical and Scientific Advisory Council (MASAC). MASAC Document 275 - MASAC Recommendations regarding physical therapy management for the care of persons with bleeding disorders. May 2023 [internet publication].全文

78. 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.全文  摘要

79. 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. 摘要

80. 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.全文  摘要

81. 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.全文  摘要

82. 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.全文  摘要

83. 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.全文  摘要

84. 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. 摘要

85. 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.全文  摘要

86. 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. 摘要

87. 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.全文  摘要

88. 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.全文

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

90. 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.全文  摘要

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

92. 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.全文  摘要

93. 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.全文  摘要

94. 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. 摘要

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

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

97. 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.全文  摘要

98. 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.全文  摘要

99. 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.全文  摘要

100. 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.全文  摘要

101. 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].全文

102. 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].全文

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

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

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

106. Pipe SW, Leebeek FWG, Recht M, et al. Gene therapy with etranacogene dezaparvovec for hemophilia B. N Engl J Med. 2023 Feb 23;388(8):706-18.全文  摘要

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.全文  摘要

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.全文  摘要

109. Samelson-Jones BJ, Sullivan SK, et al. Follow-up of more than 5 years in a cohort of patients with hemophilia B treated with fidanacogene elaparvovec adeno-associated virus gene therapy. Blood. 2021 Nov 23;138:3975.全文

110. ClinicalTrials.gov. A study to evaluate the efficacy and safety of factor IX gene therapy with PF-06838435 in adult males with moderately severe to severe hemophilia B (BENEGENE-2). ClinicalTrials.gov Identifier: NCT03861273. Aug 2023 [internet publication].全文

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.全文  摘要

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.全文  摘要

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.全文  摘要

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.全文  摘要

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.全文

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.全文  摘要

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. 摘要

118. ClinicalTrials.gov. Single-arm study to evaluate the efficacy and safety of valoctocogene roxaparvovec in hemophilia A patients (BMN 270-301) (BMN 270-301). ClinicalTrials.gov Identifier: NCT03370913. Dec 2022 [internet publication].全文

119. 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.全文  摘要

120. 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].全文

121. 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.全文  摘要

122. 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.全文  摘要

123. 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.全文  摘要

124. 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.全文  摘要

125. 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.全文  摘要

126. 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.全文  摘要

127. 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.全文  摘要

128. 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. 摘要

129. 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.全文

130. 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.全文  摘要

131. 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].全文

132. 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].全文

133. 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].全文

134. 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].全文

135. 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.全文  摘要

136. Shapiro AD. Concizumab: a novel anti-TFPI therapeutic for hemophilia. Blood Adv. 2021 Jan 12;5(1):279.全文  摘要

137. Cardinal M, Kantaridis C, Zhu T, et al. A first-in-human study of the safety, tolerability, pharmacokinetics and pharmacodynamics of PF-06741086, an anti-tissue factor pathway inhibitor mAb, in healthy volunteers. J Thromb Haemost. 2018 Sep;16(9):1722-31.全文  摘要

138. ClinicalTrials.gov. Study of the efficacy and safety PF-06741086 in adult and teenage participants with severe hemophilia A or moderately severe to severe hemophilia B. Jun 2022 [internet publication].全文

139. ClinicalTrials.gov. Open-label extension study of marstacimab in hemophilia participants with or without inhibitors. Jun 2022 [internet publication].全文

140. Wu JK, Woo C, Crilly E. Immune tolerance induction in severe hemophilia a patients using Wilate®, a von Willebrand factor/factor VIII concentrate. Blood 2014;124(21):5057.全文

141. Gringeri A, Musso R, Mazzucconi MG, et al. Immune tolerance induction with a high purity von Willebrand factor/VIII complex concentrate in haemophilia A patients with inhibitors at high risk of a poor response. Haemophilia. 2007 Jul;13(4):373-9.全文  摘要

142. Tang L, Wu R, Sun J, et al. Short-term low-dose secondary prophylaxis for severe/moderate haemophilia A children is beneficial to reduce bleed and improve daily activity, but there are obstacle in its execution: a multi-centre pilot study in China. Haemophilia. 2013 Jan;19(1):27-34.全文  摘要

143. Hua B, Lian X, Li K, et al. Low-dose tertiary prophylactic therapy reduces total number of bleeds and improves the ability to perform activities of daily living in adults with severe haemophilia A: a single-centre experience from Beijing. Blood Coagul Fibrinolysis. 2016 Mar;27(2):136-40. 摘要

144. Verma SP, Dutta TK, Mahadevan S, et al. A randomized study of very low-dose factor VIII prophylaxis in severe haemophilia: a success story from a resource limited country. Haemophilia. 2016 May;22(3):342-8. 摘要

145. Gouider E, Jouini L, Achour M, et al. Low dose prophylaxis in Tunisian children with haemophilia. Haemophilia. 2017 Jan;23(1):77-81. 摘要

146. Eshghi P, Sadeghi E, Tara SZ, et al. Iranian low-dose escalating prophylaxis regimen in children with severe hemophilia A and B. Clin Appl Thromb Hemost. 2018 Apr;24(3):513-8.全文  摘要

147. Castaman G. The role of recombinant activated factor VII in the haematological management of elective orthopaedic surgery in haemophilia A patients with inhibitors. Blood Transfus. 2017 Sep;15(5):478-86.全文  摘要

148. Polyanskaya T, Zorenko V, Karpov E, et al. Experience of recombinant activated factor VII usage during surgery in patients with haemophilia with inhibitors. Haemophilia. 2012 Nov;18(6):997-1002. 摘要

149. Goedert JJ, Eyster ME, Lederman MM, et al. End-stage liver disease in persons with hemophilia and hemophilia and transfusion-associated infections. Blood. 2002 Sep 1;100(5):1584-9. 摘要

150. Eyster ME, Diamondstone LS, Lien JM, et al. Natural history of hepatitis C virus infection in multitransfused hemophiliacs: effect of coinfection with human immunodeficiency virus. J Acquir Immune Defic Syndr. 1993 Jun;6(6):602-10. 摘要

151. Hoots K, Canty D. Clotting factor concentrates and immune function in haemophilic patients. Haemophilia. 1998 Sep;4(5):704-13. 摘要

152. Santagostino E, Riva A, Cesaro S, et al. Consensus statements on vaccination in patients with haemophilia-results from the Italian haemophilia and vaccinations (HEVA) project. Haemophilia. 2019 Jul;25(4):656-67.全文  摘要

153. Steele M, Cochrane A, Wakefield C, et al. Hepatitis A and B immunization for individuals with inherited bleeding disorders. Haemophilia. 2009 Mar;15(2):437-47. 摘要

154. Gomis M, Querol F, Gallach JE, et al. Exercise and sport in the treatment of haemophilic patients: a systematic review. Haemophilia. 2009 Jan;15(1):43-54. 摘要

155. Broderick CR, Herbert RD, Latimer J, et al. Association between physical activity and risk of bleeding in children with hemophilia. JAMA. 2012 Oct 10;308(14):1452-9. 摘要

156. Tagliaferri A, Feola G, Molinari AC, et al. Benefits of prophylaxis versus on-demand treatment in adolescents and adults with severe haemophilia A: the POTTER study. Thromb Haemost. 2015 Jul;114(1):35-45. 摘要

157. Gomber S, Singhal G, Dewan P, et al. Twice weekly vs. thrice weekly low-dose prophylactic factor VIII therapy in children with hemophilia A: an open label randomized trial. J Trop Pediatr. 2022 Apr 5;68(3):fmac039. 摘要