血友病

Pruthi RK. Hemophilia: a practical approach to genetic testing. Mayo Clin Proc. 2005;80:1485-1499.

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Peyvandi F, Jayandharan G, Chandy M, et al. Genetic diagnosis of haemophilia and other inherited bleeding disorders. Haemophilia. 2006;12:82-89.

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Kulkarni R, Lusher JM. Intracranial and extracranial hemorrhages in newborns with hemophilia: a review of the literature. J Pediatr Hematol Oncol. 1999;21:289-295.

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Srivastava A, Brewer AK, Mauser-Bunschoten EP, et al. Guidelines for the management of hemophilia. Haemophilia. 2013;19:e1-e47.

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Rodriguez NI, Hoots WK. Advances in hemophilia: experimental aspects and therapy. Pediatr Clin North Am. 2008;55:357-376.

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

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Brown DL. Congenital bleeding disorders. Curr Probl Pediatr Adolesc Health Care. 2005;35:38-62.

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

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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;357:535-544.

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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;(4):CD010561.

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1.  Blanchette VS, Key NS, Ljung LR, et al; Subcommittee on Factor VIII, Factor IX and Rare Coagulation Disorders. Definitions in hemophilia: communication from the SSC of the ISTH. J Thromb Haemost. 2014;12:1935-1939.

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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;85:560.

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3.  Soucie JM, Evatt B, Jackson D; the Hemophilia Surveillance System Project Investigators. Occurrence of hemophilia in the United States. Am J Hematol. 1998;59:288-294.

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4.  National Heart, Lung and Blood Institute. What is hemophilia? July 2013. http://www.nhlbi.nih.gov (last accessed 16 March 2017).

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5.  World Federation of Hemophilia. Report on the annual global survey, 2009. 2011. http://www.wfh.org (last accessed 16 March 2017).

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6.  Pruthi RK. Hemophilia: a practical approach to genetic testing. Mayo Clin Proc. 2005;80:1485-1499.

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7.  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;109:1870-1877.

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8.  Peyvandi F, Jayandharan G, Chandy M, et al. Genetic diagnosis of haemophilia and other inherited bleeding disorders. Haemophilia. 2006;12:82-89.

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9.  Leuer M, Oldenburg J, Lavergne JM, et al. Somatic mosaicism in hemophilia A: a fairly common event. Am J Hum Genet. 2001;69:75-87.

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

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

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

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13.  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;10:622-631.

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14.  Monroe DM, Hoffman M. What does it take to make the perfect clot? Arterioscler Thromb Vasc Biol. 2006;26:41-48.

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

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16.  Oldenburg J, Schroder J, Brackmann HH, et al. Environmental and genetic factors influencing inhibitor development. Semin Hematol. 2004;41:82-88.

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17.  Schwaab R, Brackmann HH, Meyer C, et al. Haemophilia A: mutation type determinates risk of inhibitor formation. Thromb Haemost. 1995;74:1402-1406.

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18.  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;7:267-272.

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19.  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;90:924-931.

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20.  Gill JC. The role of genetics in inhibitor formation. Thromb Haemost. 1999;82:500-504.

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21.  Shittu OB, Shokunbi WA. Circumcision in haemophiliacs: the Nigerian experience. Haemophilia 2001;7:534-536.

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22.  Kulkarni R, Lusher JM. Intracranial and extracranial hemorrhages in newborns with hemophilia: a review of the literature. J Pediatr Hematol Oncol. 1999;21:289-295.

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23.  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;13:380-382.

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24.  Ljung RC. Intracranial haemorrhage in haemophilia A and B. Br J Haematol. 2008;140:378-384.

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25.  Nagel K, Pai MK, Paes BA, et al. Diagnosis and treatment of intracranial hemorrhage in children with hemophilia. Blood Coagul Fibrinolysis. 2013;24:23-27.

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26.  Arnold WD, Hilgartner MW. Hemophilic arthropathy. Current concepts of pathogenesis and management. J Bone Joint Surg Am. 1977;59:287-305.

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27.  Warrier I. Antibodies to factor IX. Haematologica. 2000;85(10 Suppl):31-33.

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28.  Srivastava A, Brewer AK, Mauser-Bunschoten EP, et al. Guidelines for the management of hemophilia. Haemophilia. 2013;19:e1-e47.

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29.  Rodriguez NI, Hoots WK. Advances in hemophilia: experimental aspects and therapy. Pediatr Clin North Am. 2008;55:357-376.

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

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31.  Lee CA, Lillicrap D, Astermark J. Inhibitor development in hemophiliacs: the roles of genetic versus environmental factors. Semin Thromb Hemost. 2006;32:10-14.

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32.  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;5:145-154.

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33.  Hay CR, Ludlam CA, Colvin BT, et al. Factor VIII inhibitors in mild and moderate-severity haemophilia A. UK Haemophilia Centre Directors organisation. Thromb Haemost. 1998;79:762-766.

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34.  National Heart, Lung, and Blood Institute. The diagnosis, evaluation, and management of von Willebrand Disease. December 2007. http://www.nhlbi.nih.gov (last accessed 16 March 2017).

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35.  Favaloro EJ. The utility of PFA-100 in the identification of von Willebrand disease: a concise review. Semin Thromb Hemost. 2006;32:537-545.

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36.  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;25:474-479.

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37.  Nurden AT. Qualitative disorders of platelets and megakaryocytes. J Thromb Haemost. 2005;3:1773-1782.

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38.  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;121:1446-1454.

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39.  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;8:1256-1265.

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40.  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;368:231-239.

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41.  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;374:2054-2064.

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42.  Medical and Scientific Advisory Council (MASAC). MASAC recommendation #243 on SIPPET (Survey of Inhibitors in Plasma-Product-Exposed Toddlers): results and recommendations for treatment products for previously untreated patients with hemophilia A. June 2016. https://www.hemophilia.org/Researchers-Healthcare-Providers/Medical-and-Scientific-Advisory-Council-MASAC/MASAC-Recommendations/

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43.  United Kingdom Haemophilia Centres Doctor's Organisation. Clinical genetics services for haemophilia. 2015. http://www.ukhcdo.org/guidelines/ (last accessed 16 March 2017).

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44.  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;160:153-170.

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45.  Brown DL. Congenital bleeding disorders. Curr Probl Pediatr Adolesc Health Care. 2005;35:38-62.

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46.  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. French FEIBA Study Group. Factor Eight Bypassing Activity. Thromb Haemost. 1997;77:1113-1119.

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47.  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;80:912-918.

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

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49.  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;109:546-551.

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50.  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; 87:383-393.

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51.  Iorio A, Matino D, D'Amico R, et al. Recombinant Factor VIIa concentrate versus plasma derived concentrates for the treatment of acute bleeding episodes in people with haemophilia and inhibitors. Cochrane Database Syst Rev. 2010;(8):CD004449.

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52.  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;21:162-170.

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53.  D'Arena G, Grandone E, Di Minno MN, et al. Acquired hemophilia a successfully treated with rituximab. Mediterr J Hematol Infect Dis. 2015;7:e2015024.

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

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55.  Richards M, Williams M, Chalmers E, et al. Guideline on the use of prophylactic factor VIII concentrate in children and adults with severe haemophilia A: UKHCDO guideline approved by the British Committee for Standards in Haematology. Br J Haematol. 2010;149:498-507.

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

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57.  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;9:700-710.

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58.  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;232:25-32.

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59.  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;357:535-544.

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60.  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.

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61.  Oldenburg J. Optimal treatment strategies for hemophilia: achievements and limitations of current prophylactic regimens. Blood. 2015;125:2038-2044.

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62.  DiMichele DM, Hoots WK, Pipe SW, et al. International workshop on immune tolerance induction: consensus recommendations. Haemophilia. 2007;13(suppl 1):1-22.

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63.  Hay CR, DiMichele DM; International Immune Tolerance Study. The principal results of the International Immune Tolerance Study: a randomized dose comparison. Blood. 2012;119:1335-1344.

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64.  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;(4):CD010561.

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65.  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;12:897-901.

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66.  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. April 2017. https://www.fda.gov/ (last accessed 21 April 2017).

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67.  Medicines and Healthcare Products Regulatory Agency. Codeine: restricted use as analgesic in children and adolescents after European safety review. Drug Safety Update. 2013;6:S1.

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68.  European Medicines Agency. Restrictions on use of codeine for pain relief in children - CMDh endorses PRAC recommendation. June 2013. http://www.ema.europa.eu/ (last accessed 16 March 2017).

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69.  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;141(suppl 3):S9-S12.

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70.  Valentino LA, Ismael Y, Grygotis M. Novel drugs to treat hemophilia. Expert Opin Emerg Drugs. 2010;15:597-613.

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71.  Spira J, Plyushch O, Zozulya N, et al. Safety, pharmacokinetics and efficacy of factor VIIa formulated with PEGylated liposomes in haemophilia A patients with inhibitors to factor VIII--an open label, exploratory, cross-over, phase I/II study. Haemophilia. 2010;16:910-918.

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72.  Pipe SW. The hope and reality of long-acting hemophilia products. Am J Hematol. 2012;87 Suppl 1:S33-39.

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73.  Powell JS, Pasi KJ, Ragni MV, et al. Phase 3 study of recombinant factor IX Fc fusion protein in hemophilia B. Blood. 2014;123:317-325.

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74.  Mahlangu J, Powell JS, Ragni MV, et al. Phase 3 study of recombinant factor VIII Fc fusion protein in severe hemophilia A. Blood. 2014;123:317-325.

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75.  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;13:967-977.

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76.  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;124:3880-3886.

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77.  Nathwani AC, Tuddenham EG, Rangarajan S, et al. Adenovirus-associated virus vector-mediated gene transfer in hemophilia B. N Engl J Med. 2011;365:2357-2365.

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78.  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;21:492-497.

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79.  European Haemophilia Consortium. Roche issues statement on emicizumab clinical trial. February 2017. http://www.ehc.eu/ (last accessed 16 March 2017).

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80.  Chapman WC, Singla N, Genyk Y, et al. A phase 3, randomized, double-blind comparative study of the efficacy and safety of topical recombinant human thrombin and bovine thrombin in surgical hemostasis. J Am Coll Surg. 2007;205:256-265.

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81.  Gringeri A, Monzini M, Tagariello G, et al. Occurrence of inhibitors in previously untreated or minimally treated patients with haemophilia A after exposure to a plasma-derived solvent-detergent factor VIII concentrate. Haemophilia. 2006;12:128-132.

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82.  Obergfell A, Auvinen MK, Mathew P. Recombinant activated factor VII for haemophilia patients with inhibitors undergoing orthopaedic surgery: a review of the literature. Haemophilia. 2008;14:233-241.

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83.  Goedert JJ, Eyster ME, Lederman MM, et al. End-stage liver disease in persons with hemophilia and hemophilia and transfusion-associated infections. Blood. 2002;100:1584-1589.

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84.  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. The Multicenter Hemophilia Cohort Study. J Acquir Immune Defic Syndr. 1993;6:602-610.

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85.  Hoots K, Canty D. Clotting factor concentrates and immune function in haemophilic patients. Haemophilia. 1998;4:704-713.

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

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87.  Broderick CR, Herbert RD, Latimer J, et al. Association between physical activity and risk of bleeding in children with hemophilia. JAMA. 2012;308:1452-1459.

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88.  Steele M, Cochrane A, Wakefield C, et al. Hepatitis A and B immunization for individuals with inherited bleeding disorders. Haemophilia. 2009;15:437-447.

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