Diagnosis and management of haemophilia

BMJ (Online)

Volumn 344, Issue 7855, 2012, Pages

  Fijnvandraat, Karin ^a,b   Cnossen, Marjon H ^c   Leebeek, Frank W G ^d   Peters, Marjolein ^a,b  

^a ACADEMIC MEDICAL CENTER   (Netherlands)

^b EMMA CHILDREN S HOSPITAL   (Netherlands)

^c SOPHIA CHILDREN S HOSPITAL   (Netherlands)

^d ERASMUS MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

ACTIVATED PROTHROMBIN COMPLEX; BLOOD CLOTTING FACTOR; BLOOD CLOTTING FACTOR 8; BLOOD CLOTTING FACTOR 8 CONCENTRATE; BLOOD CLOTTING FACTOR 9; BLOOD CLOTTING FACTOR 9 CONCENTRATE; DESMOPRESSIN; FIBRIN; RECOMBINANT BLOOD CLOTTING FACTOR 7A; RECOMBINANT BLOOD CLOTTING FACTOR 8; RECOMBINANT BLOOD CLOTTING FACTOR 9; TRANEXAMIC ACID;

ARTHROPATHY; BLEEDING; COHORT ANALYSIS; CYTOGENETICS; DISEASE SEVERITY; DRUG BLOOD LEVEL; DRUG MEGADOSE; FIBRIN FORMATION; GENE LOCATION; GENETIC COUNSELING; HEMARTHROSIS; HEMOPHILIA; HEMOPHILIA A; HUMAN; MUCOCUTANEOUS BLEEDING; PARTIAL THROMBOPLASTIN TIME; PATHOGENESIS; PRACTICE GUIDELINE; PRIORITY JOURNAL; PROTEIN BINDING; PROTEIN BLOOD LEVEL; PROTEIN DEGRADATION; PROTEIN EXPRESSION; REVIEW; SEX DIFFERENCE; THROMBOCYTE ACTIVATION; VON WILLEBRAND DISEASE; X CHROMOSOME;

BLOOD COAGULATION FACTORS; FEMALE; HEMOPHILIA A; HETEROZYGOTE DETECTION; HUMANS; MALE; PATIENT EDUCATION AS TOPIC; PREGNANCY;

EID: 84860607744     PISSN: None     EISSN: 17561833     Source Type: Journal    
DOI: 10.1136/bmj.e2707     Document Type: Review

References (34)

1. Lenting PJ, van Mourik JA, Mertens K. The life cycle of coagulation factor VIII in view of its structure and function. Blood 1998;92:3983-96. (Pubitemid 28544310)
2. Haemophilia B mutation database. Version 13. 2004. www.kcl.ac.uk/ip/ petergreen/haemBdatabase.html.
3. Centers for Disease Control and Prevention. Hemophilia A mutation project. www.cdc.gov/ncbddd/hemophilia/champs.html.
4. White GC, Rosendaal F, Aledort LM, Lusher JM, Rothschild C, Ingerslev J. 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. (Pubitemid 32233035)
5. Laffan M, Brown SA, Collins PW, Cumming AM, Hill FG, Keeling D, et al. The diagnosis of von Willebrand disease: a guideline from the UK Haemophilia Centre Doctors' Organization. Haemophilia 2004;10:199-217. (Pubitemid 38584792)
6. Keeling D, Tait C, Makris M. Guideline on the selection and use of therapeutic products to treat haemophilia and other hereditary bleeding disorders. A United Kingdom Haemophilia Center Doctors' Organisation (UKHCDO) guideline approved by the British Committee for Standards in Haematology. Haemophilia 2008;14:671-84.
7. Mannucci PM, Canciani MT, Rota L, Donovan BS. Response of factor VIII/von Willebrand factor to DDAVP in healthy subjects and patients with haemophilia A and von Willebrand's disease. Br J Haematol 1981;47:283-93. (Pubitemid 11054601)
8. Richards M, Williams M, Chalmers E, Liesner R, Collins P, Vidler V, 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;149:498-507.
9. Manco-Johnson MJ, Abshire TC, Shapiro AD, Riske B, Hacker MR, Kilcoyne R, et al. Prophylaxis versus episodic treatment to prevent joint disease in boys with severe hemophilia. N Engl J Med 2007;357:535-44. (Pubitemid 47236278)
10. Gringeri A, Lundin B, von MS, Mantovani L, Mannucci PM. A randomized clinical trial of prophylaxis in children with hemophilia A (the ESPRIT Study). J Thromb Haemost 2011;9:700-10.
11. Witmer C, Presley R, Kulkarni R, Soucie JM, Manno CS, Raffini L. Associations between intracranial haemorrhage and prescribed prophylaxis in a large cohort of haemophilia patients in the United States. Br J Haematol 2011;152:211-6.
12. Fischer K, Grobbee DE, van den Berg HM. RCTs and observational studies to determine the effect of prophylaxis in severe haemophilia. Haemophilia 2007;13:345-50. (Pubitemid 47040161)
13. Plug I, Peters M, Mauser-Bunschoten EP, de Goede-Bolder A, Heijnen L, Smit C, et al. Social participation of patients with hemophilia in the Netherlands. Blood 2008;111:1811-5. (Pubitemid 351451486)
14. Teitel JM, Barnard D, Israels S, Lillicrap D, Poon MC, Sek J. Home management of haemophilia. Haemophilia 2004;10:118-33. (Pubitemid 38324497)
15. Srivastava A, You SK, Ayob Y, Chuansumrit A, de Bosch N, Perez Bianco R, et al. Hemophilia treatment in developing countries: products and protocols. Semin Thromb Hemost 2005;31:495-500. (Pubitemid 41642561)
16. Hermans C, Altisent C, Batorova A, Chambost H, De Moerloose P, Karafoulidou A, et al. Replacement therapy for invasive procedures in patients with haemophilia: literature review, European survey and recommendations. Haemophilia 2009;15:639-58.
17. Oldenburg J, Pavlova A. Genetic risk factors for inhibitors to factors VIII and IX. Haemophilia 2006;12(suppl 6):15-22. (Pubitemid 44741498)
18. Astermark J, Altisent C, Batorova A, Diniz MJ, Gringeri A, Holme PA, et al. Non-genetic risk factors and the development of inhibitors in haemophilia: a comprehensive review and consensus report. Haemophilia 2010;16:747-66.
19. Leissinger C, Gringeri A, Antmen B, Berntorp E, Biasoli C, Carpenter S, et al. Anti-inhibitor coagulant complex prophylaxis in hemophilia with inhibitors. N Engl J Med 2011;365:1684-92.
20. Hay CR, Dimichele DM. The principal results of the International Immune Tolerance Study: a randomized dose comparison. Blood 2012;119:1335-44.
21. Plug I, Mauser-Bunschoten EP, Brocker-Vriends AH, van Amstel HK, van der Bom JG, van Diemen-Homan JE, et al. Bleeding in carriers of hemophilia. Blood 2006;108:52-6. (Pubitemid 43990612)
22. Kouides PA, Kadir RA. Menorrhagia associated with laboratory abnormalities of hemostasis: epidemiological, diagnostic and therapeutic aspects. J Thromb Haemost 2007;5(suppl 1):175-82. (Pubitemid 46958831)
23. Lee CA, Chi C, Pavord SR, Bolton-Maggs PH, Pollard D, Hinchcliffe-Wood A, et al. The obstetric and gynaecological management of women with inherited bleeding disorders - review with guidelines produced by a taskforce of UK Haemophilia Centre Doctors' Organization. Haemophilia 2006;12:301-36.
24. Peyvandi F, Garagiola I, Mortarino M. Prenatal diagnosis and preimplantation genetic diagnosis: novel technologies and state of the art of PGD in different regions of the world. Haemophilia 2011;17(suppl 1):14-7.
25. Chalmers E, Williams M, Brennand J, Liesner R, Collins P, Richards M. Guideline on the management of haemophilia in the fetus and neonate. Br J Haematol 2011;154:208-15.
26. Bustamante-Aragones A, Rodriguez de AM, Gonzalez-Gonzalez C, Trujillo-Tiebas MJ, Diego-Alvarez D, Vallespin E, et al. Foetal sex determination in maternal blood from the seventh week of gestation and its role in diagnosing haemophilia in the foetuses of female carriers. Haemophilia 2008;14:593-8.
27. Trigg DE, Stergiotou I, Peitsidis P, Kadir RA. A systematic review: the use of desmopressin for treatment and prophylaxis of bleeding disorders in pregnancy. Haemophilia 2012;18:25-33.
28. MacLean PE, Fijnvandraat K, Beijlevelt M, Peters M. The impact of unaware carriership on the clinical presentation of haemophilia. Haemophilia 2004;10:560-4. (Pubitemid 39317767)
29. Ljung R, Lindgren AC, Petrini P, Tengborn L. Normal vaginal delivery is to be recommended for haemophilia carrier gravidae. Acta Paediatr 1994;83:609-11. (Pubitemid 24197615)
30. Richards M, Lavigne LG, Combescure C, Batorova A, Dolan G, Fischer K, et al. Neonatal bleeding in haemophilia: a European cohort study. Br J Haematol 2012;156:374-82.
31. Negrier C, Knobe K, Tiede A, Giangrande P, Moss J. Enhanced pharmacokinetic properties of a glycoPEGylated recombinant factor IX: a first human dose trial in patients with hemophilia B. Blood 2011;118:2695-701.
32. High KA. Gene therapy for haemophilia: a long and winding road. J Thromb Haemost 2011;9(suppl 1):2-11.
33. Nathwani AC, Tuddenham EG, Rangarajan S, Rosales C, McIntosh J, Linch DC, et al. Adenovirus-associated virus vector-mediated gene transfer in hemophilia B. N Engl J Med 2011;365:2357-65.
34. Colvin BT, Astermark J, Fischer K, Gringeri A, Lassila R, Schramm W, et al. European principles of haemophilia care. Haemophilia 2008;14:361-74. (Pubitemid 351338698)