Part I: Principles of haemophilia A and B management;Czȩść I: Zasady postȩpowania w hemofilii A i B

Acta Haematologica Polonica

Volumn 39, Issue 3, 2008, Pages 537-564

  Windyga, Jerzy ^a,i   Chojnowski, Krzysztof ^b   Klukowska, Anna ^c   Łȩtowska, Magdalena ^d   Mital, Andrzej ^e   Podolak Dawidziak, Maria ^f   Zdziarska, Joanna ^g   Zawilska, Krystyna ^d,h  

^a Instytutu Hematologii I Transfuzjologii W Warszawie

^b Katedra I Klinika Hematologii

^c MEDICAL UNIVERSITY OF WARSAW   (Poland)

^d Akademii Medycznej W Gdańsku ^*

^e MEDICAL UNIVERSITY OF GDANSK   (Poland)

^f WROCLAW MEDICAL UNIVERSITY   (Poland)

^g UNIVERSITY HOSPITAL IN KRAKOW   (Poland)

^h Uniwersytetu Medycznego Im Karola Marcinkowskiego W Poznaniu

ⁱ INSTITUTE OF HEMATOLOGY AND TRANSFUSION MEDICINE   (Poland)

Author keywords

Bleeding; Factor IX; Guidelines; Haemophilia A; Haemophilia B; Poland, factor VIII

Indexed keywords

DISEASE COURSE; HEMOPHILIA A; HEMOPHILIA B; HUMAN; PATHOGENESIS; PROPHYLAXIS; REVIEW;

EID: 56249122601     PISSN: 00015814     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Review

References (92)

1. Windyga J. Diagnostyka laboratoryjna zaburzeń hemostazy. W: Badania laboratoryjne w hematologii. Podrȩcznik dla słuchaczy studiów medycznych pod red. B. Mariańskiej, J. Fabijańskiej-Mitek, J. Windygi. Warszawa 2003. Wyd. Lek. PZWL, 192-225.
2. White GC. II, Rosendaal F, Aledort L.M, Lusher J.M, Rothschild C, Ingerslev J. On behalf of factor VIII and factor IX Subcommittee. Definitions in haemophilia. Recommendations 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.
3. Hollestelle MJ, Thinnes T, Crain K. Tissue distribution of factor VIII gene expression in vivo: a closer look. Thromb Haemost 2001; 86: 855-861.
4. Gitschier J, Wood W.I, Goralka TM, Wion K.L, Chen E.Y, Eaton DH, Vehar GA, Capon DJ, Lawn RM. Characterization of the human factor VIII gene. Nature 1984; 312: 326-330.
5. Bolton-Maggs P.H.B, Pasi J.K. Haemophilias A and B. Lancet 2003; 361: 1801-1809.
6. Lakich D, Kazazian H.H. Jr, Antonarakis S.E, Gitschier J. Inversions disrupting the factor VIII gene are a common cause of severe haemophilia A. Nat Genet 1993; 5: 236-241.
7. Rossiter JP, Young M, Kimberland ML. Factor VIII gene inversions causing severe haemophilia A originate almost exclusively in male germ cells. Hum Mol Genet 1994; 3: 1035-1039.
8. Bagnall RD, Waseem N, Green P.M, Giannelli F. Recurrent inversion braking intron 1 of the factor VIII gene is a frequent cause of severe haemophilia A. Blood 2002; 99: 168-174.
9. Kaufman RJ. Cellular processing of factors VIII and IX. W: Textbook of Hemophilia (red. Lee C.A., Berntorp E.E., Hoots K.W.). Blackwell Publishing, Oxford 2005; 5-12.
10. Kurachi K, Davie EW. Isolation and characterization of a cDNA coding for human factor IX. Proc Natl Acad Sci 1982; 79: 6461-6464.
11. Green P.M. Hemophilia B - molecular basis. W: Textbook of Hemophilia (red. Lee C.A., Berntorp E.E., Hoots K.W.). Blackwell Publishing, Oxford 2005; 91-96.
12. Reitsma P.H, Bertina R.M, Ploos van Amstel JK. The putative factor IX gene promoter in hemophilia B Leyden. Blood 1988; 72: 1074-1076.
13. Plug I, Mauser-Bunschoten Indyga.P, Brocker-Vriends A.H.J.T. Bleeding in carriers of hemophilia. Blood 2006; 108: 52-56.
14. Windyga J, Łopaciuk S, Stefańska E. i wsp. Hemofilia i pokrewne skazy krwotoczne w Polsce. Pol Arch Med Wew 2004; 112: 1197-1202.
15. Pollmann H., Richter H., Ringkamp H., Jurgens H. When are children diagnosed as having severe haemophilia and when do they start to bleed? A 10-year single-centre PUP study. Eur J Pediatr 1999; 158 (supl. 3): 166-170.
16. Klukowska A. Pierwsze objawy hemofilii u dzieci. Ped. Pol. 1990; 65: 9-13.
17. Windyga J, Stefańska E, Łopaciuk S, Juszyński A, Woźniak D, Strzelecki D. Stan narza̧du ruchu w wybranej grupie chorych na ciȩżka̧ hemofiliȩ. Pol. Arch. Med. Wew. 2005; 113: 6, 562-569.
18. Klukowska A, Czyrny Z, Łaguna P, Brzewski M, Serafin-Król M.A, Rokicka-Milewska R. Correlation between clinical, radiological and ultrasonographical image of knee joints in children with haemophilia. Haemophilia 2001; 7: 286-292.
19. Guidelines for management of hemophilia. World Federation of Hemophilia, 2005. Publikacja dostȩpna na stronie internetowej www.wfh.org.
20. Szczepanik AB, Zaleska M, Wiszniewski A, Wislawski S, Misiak A, Maryniak R, Windyga J. Helicobacter pylori infection in patients with haemophilia in Poland: prevalence and risk of upper gastrointestinal bleeding. Haemophilia 2005; 11: 376-379.
21. Ljung R.C.R. Intracranial haemorrhage in haemophilia A and B. British Journal of Haematology 2008; 140: 378-384.
22. Klukowska A, Gazda H, Szczepanik E. Odległe wyniki leczenia wylewów śródczaszkowych u dzieci chorych na wrodzone osoczowe skazy krwotoczne. Ped. Pol. 1988; 43: 312-318.
23. Schulman S. Mild hemophilia. World Federation of Haemophilia, 2006. Publikacja dostȩpna na stronie internetowej www.wfh.org.
24. White B, Ryan C. Work-up of a bleeding adult. W: Textbook of Hemophilia (red. Lee C.A., Berntorp E.E., Hoots K.W.). Blackwell Publishing, Oxford 2005, 13-18.
25. Blanchette VS, Kahr WHA. Work-up of a bleeding child. W: Textbook of Hemophilia (red. Lee C.A., Berntorp EE, Hoots K.W.). Blackwell Publishing, Oxford 2005; 112-119.
26. Barrowclifee T.W. Standardization of FVIII & FIX assays. Haemophilia 2003, 9, 397-402.
27. Verbruggen B, Meijer P, Novakova I, van Heerde W. Diagnosis of factor VIII deficiency. Haemophilia 2008, 14 (supl. 3): 76-82.
28. Barrowclifee TW. Monitoring haemophilia severity and treatment: new or old laboratory tests? Haemophilia 2004; 10 (supl. 4): 109-114.
29. Colvin BT, Astermark J, Fischer K, Gringeri A, Lassila R, Schramm W, Thomas A, Ingerslev J. For the Interdisciplinary Working Group. European principles of haemophilia care. Haemophilia 2008; 14: 361-374.
30. Oldenburg J, Ananyeva NM, Saenko EL. Molecular basis of haemophilia A. Haemophilia 2004, 10 (supl. 4): 133-139.
31. Miller R. Counselling about diagnosis and inheritance of genetic bleeding disorders: haemophilia A and B. Haemophilia 1999; 5: 77-83.
32. Ross J. Perspectives of haemophilia carriers. Haemophilia 2000, 6 (supl. 1): 41-45.
33. Bustamante-Aragones A, Rodriguez de Alba M, Gonzalez-Gonzalez C, Trujillo-Tiebas MJ, Diego-Alvarez D, Vallespin E, Plaza J, Ayuso C, Ramos C. 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 Mar 4 [Epub ahead of print].
34. Chi C, Lee CA, Shiltagh N, Khan A, Pollard D, Kadir RA. Pregnancy in carriers of haemophilia. Haemophilia 2008 Jan; 14(1): 56-64
35. Key N.S, Negrier C. Coagulation factor concentrates: past, present, and future. Lancet 2007, 370: 439-448.
36. Brooker M. Registry of clotting factor concentrates. World Federation of Haemophilia 2008. Publikacja dostȩpna na stronie internetowej www.wfh.org.
37. Mannucci PM. Hemophilia: treatment options in the twenty-first century. J Thromb Haemost 2003; 1: 1349-1355.
38. Windyga J. Rekombinowane czynniki krzepniȩcia krwi. Acta Haematol Pol. 2004; 35 (supl. 1): 1-10.
39. Plug I, van der Bom J.G, Peters M, Mauser-Bunschoten EP, de Goede-Bolder A, Heijnen L., Smit C,R. Mortality and causes of death in patients with hemophilia, 1992-2001: a prospective cohort study. J Thromb Haemost 2006; 4: 510-516.
40. Tabor E. The epidemiology of virus transmission by plasma derivatives. Clinical studies verifying the lack of transmission of hepatitis B and C viruses and HIV type 1. Transfusion 1999; 39: 1160-1168.
41. Azzi A, Morfini M, Mannucci PM. The transfusion-associated transmission of parvovirus B19. Transf Med Rev 1999; 13: 194-204.
42. Farrugia A. Evolving perspectives in product safety for hemophilia. Haemophilia 2002; 8: 236-243.
43. Lusher JM, Arkin S, Abildgaard CF, Schwartz RS. Recombinant factor VIII for the treatment of previously untreated patients with hemophilia A. Safety, efficacy and development of inhibitors. Kogenate Previously Untreated Patients Study Group. N Engl J Med 1993; 328: 453-459.
44. Bray GL, Gomperts ED, Courter S, Gruppo R, Gordon E.M, Manco-Jonhson M, Shapiro A., Scheibel E, White G, Lee MA. A multicenter study of recombinant factor VIII (recombinate): safety, efficacy, and inhibitor risk in previously untreated patients with hemophilia A. The Recombinate Safety Study. Blood 1994; 83: 2428-2435.
45. Mikaelsson M, Oswaldsson U, Jankowski M.A. Measurement of factor VIII activity of B-domain deleted recombinant factor VIII. Seminars in Haematol 2001; 38: 13-23.
46. White GC, Beebe A, Nielsen B. Recombinant factor IX. Thromb Haemost 1997; 78: 261-265.
47. Richard K.A. Guidelines for therapy and optimal dosages of coagulation factors for treatment of bleeding and surgery in haemophilia. Haemophilia 1995; 1 (supl. 1): 8-13.
48. Kasper CK. Hereditary plasma clotting factor disorders and their management. Haemophilia 2000; 6 (supl. 1): 13-37.
49. Santagostino E, Mannucci PM, Bonomi AB. Guidelines on replacament therapy for haemophilia and inherited coagulation disorders in Italy. Haemophilia 2000; 6: 1-10.
50. Report of a joint WHO/WFH/ISTH meeting. Delivery of treatment for haemophilia. World Health Organization, Geneva, Switzerland 2002.
51. Bolton-Maggs PHB, Stobart K, Smyth RL. Evidence-based treatment of haemophilia. Haemophilia 2004, 10 (supl. 4): 20-24.
52. Castaman G. Desmopressin for the treatment of haemophilia. Haemophilia 2008, 14 (supl. 1): 15-20.
53. Mannucci P.M. Treatment of von Willebrand's disease. N. Engl. J Med. 2004; 351: 683-694.
54. Federici A.B. The use of desmopressin in von Willebrand disease: the experience of the first 30 years (1977-2007). Haemophilia 2008; 14 (supl. 1): 5-14.
55. Tengborn L. Fibrinolytic inhibitors in the management of bleeding disorders. World Federation of Haemophilia, 2007. Publikacja dostepna na stronie internetowej www.wfh.org.
56. Burnouf T., Radosevich M. Local hemostatic blood products in hemophilia care: fibrin sealant and platelet gel. World Federation of Haemophilia, 2008. Publikacja dostȩpna na stronie internetowej www.wfh.org.
57. Schexneider K.I. Fibrin sealants in surgical or traumatic hemorrhage. Curr Opin Hematol 2004, 11, 323-326.
58. Łaguna P, Klukowska A, Grabowska A, Rokicka-Milewska R. Zastosowanie kleju fibrynowego Tacho-Comb w hamowaniu krwawień po ekstrakcji zȩbów u dzieci ze skazami krwotocznymi. Ped Pol. 1999; 74: 899-903.
59. Pipe SW, Valentino LA. Optimizing outcomes for patients with severe haemophilia A. Haemophilia 2007; 13 (supl. 4): 1-16.
60. Ahnstrom J, Berntorp EL, Bjorkman S. A 6-year follow-up of dosing, coagulation factor levels and bleedings in relation to joint status in the prophylactic treatment of haemophilia. Haemophilia 2004, 10: 689-697.
61. Berntorp E. Pharmacoeconomics of factor dosing in the haemophilia population. Haemophilia 2006; 12 (supl. 4): 70-73.
62. Rickard KA. Guidelines for therapy and optimal dosages of coagulation factors for treatment of bleeding and surgery in haemophilia. Haemophilia 1995; 1 (supl. 1): 8-13.
63. Van Veen JJ, Gleeson DC, Makris M. Paracetamol/acetaminophen usage in haemophilia: more caution needed? Haemophilia 2008; 14: 434-435.
64. Lafeber FPJG, Miossec P, Valentino LA. Physiopathology of haemophilic arthropathy. Haemophilia 2008; 14 (supl. 1): 3-9.
65. Bossard D, Carillon Y, Stieltjes N, Larbre J-P, Laurian Y, Mohna V, Dirat G. Management of haemophilic arthropathy. Haemophilia 2008; 14 (supl. 1): 11-19.
66. Hoots WK. Emergency care issues in hemophilia. World Federation of Haemophilia 2007. Publikacja dostȩpna na stronie internetowej www.wfh.org.
67. Szczepanik AB, Misiak A, Ratajczak J, Luterek KM, Windyga J, Meissner AJ. Endoskopowa terapia iniekcyjna skojarzona z dożylnym stosowaniem omeprazolu w leczeniu krwawia̧cych wrzodów trawiennych. Pol Przegl Chir 2006; 7: 284-294.
68. Brewer AK, Roebuck EM, Donacie M, Hazard A, Gordon K, Fung D, Clarkson J. The dental management of adult patients with haemophilia and Rother congenital bleeding disorders. Haemophilia 2003; 9: 673-677.
69. Ghosh K, Madkaikar M, Jijina F, Shetty S. Fractures of long bones in severe haemophilia. Haemophilia 2007; 13: 337-339.
70. Lee CA, Chi C, Pavord SR, Bolton-Maggs PH, Pollard D, Hinchcliffe-Wood A, Kadir RA; UK Haemophilia Centre Doctors' Organization. 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 (supl. 4): 301-336.
71. Bolton-Maggs PH, Perry DJ, Chalmers EA, Parapia LA, Wilde JT, Williams MD, Collins PW, Kitchen S, Dolan G, Mumford AD. The rare coagulation disorders-review with guidelines for management from the United Kingdom Haemophilia Centre Doctors' Organisation. Haemophilia. 2004 Sep; 10(5): 593-628.
72. Batorowa A, Martinowitz U. Continuous infusion of coagulation factors. Haemophilia 2002 May, 8 (supl. 3): 170-177.
73. Batorova A., Martinowitz U. Continuous infusion of coagulation factors: current opinion. Curr Opin Hematol. 2006; 13 (supl. 5): 308-315.
74. Rodriguez-Marchan EC. Haemophilic synovitis: basic concepts. Haemophilia 2007; 13 (supl. 3): 1-3.
75. Hoots WK, Rodriguez N, Boggio L, Valentino LA. Pathogenesis of haemophilic synovitis: clinical aspects. Haemophilia 2007; 13 (supl. 3): 4-9.
76. Valentino LA, Hakobyan N, Rodriguez N, Hoots WK. Pathogenesis of haemophilic synovitis: experimental studies on blood-induced joint damage. Haemophilia 2007; 13 (supl. 3): 10-13.
77. Goddard N.J., Mann H. Diagnosis of haemophilic synovitis. Haemophilia 2007; 13 (supl. 3): 14-19.
78. Rodriguez-Marchan EC, Quintana M, de la Corte-Rodriguez H, Coya J. Radioactive synoviorthesis for the treatment of haemophilic synovitis. Haemophilia 2007; 13 (supl. 3): 32-37.
79. Verma N, Valentiono LA, Chawla A. Arthroscopic synovectomy in haemophilia: indications, technique and results. Haemophilia 2007; 13 (supl. 3): 38-44.
80. Rodriguez-Marchan EC. Total joint arthroplasty: the final solution for knee and hip when synovitis could not be controlled. Haemophilia 2007; 13 (supl. 3): 49-58.
81. Stephensen D. Rehabilitation of patients with haemophilia after orthopaedic surgery: a case study. Haemophilia 2005; 11 (supl. 1): 26-29.
82. Peacock K. Quality of life before and after surgery: mobility issues, the fear of surgery, inpatient recovery and outpatient rehabilitation. Haemophilia 2005; 11 (supl. 1): 30-31.
83. Rodriguez-Merchan EC, Gomez-Cardero P. Pathological fracture of a true tumour mimicking a haemophilic pseudotumor. Haemophilia 2005; 11: 188-190.
84. Valentino LA, Martinowitz U, Doolas A, Murali P. Surgical excision of a giant pelvic pseudotumour in a patient with haemophilia A. Haemophilia 2006; 12: 541-544
85. Windyga J, Grabarczyk P, Stefańska E, Buczma A, Szczepanik AB, Klukowska A, Mikulska M, Medyńska J, Brojer E. Czȩstoś ć zakażeń HCV, HBV i HIV w populacji chorych na ciȩżka̧ hemofiliȩ w Polsce. Przegla̧d Epidemiologiczny (w druku).
86. Franchini M, Nicolini N, Capra F. Treatment of hepatitis C in hemophiliacs. American Journal of Hematology 2006; 81: 696-702.
87. Puetz J, Thrower M, Kane R, Bouhasin J. Combination therapy with ribavirin and interferon in a cohort of children with hepatitis C and haemophilia followed at a pediatric haemophilia treatment center. Haemophilia 2004; 10: 87-93.
88. Maor I, Bashari D, Kenet G, Lubetsky A, Luboshitz J, Schapiro JM, Penaranda G, Bar-Meir S, Martinowitz U, Halfon P. Non-invasive biomarkers of liver fibrosis in haemophilia patients with hepatitis C: can you avoid liver biopsy? Haemophilia 2006; 12: 372-379.
89. Detrait M, Pothen D, Brenard R, Starkel P, Hermans C. Feasibility, safety and cost-effectiveness of transjugular liver biopsy following major surgery in patients with haemophilia. Haemophilia 2007; 13: 588-592.
90. Windyga J, Proniewski J, Stefańska E, Szczepanik AB, Brojer E, Grabarczyk P. Consequences of long-lasting HCV infection in haemophiliacs - what can we learn from ultrasonography and endoskopy evaluation? Haemophilia 2008; 14 (supl. 2): 42.
91. Makris M, Baglin T, Dusheiko G, Giangrande PLF, Lee CA, Ludlam CA, Preston FE, Watson HG, Wilde JT, Winter M. Guidelines on the diagnosis, management and prevention of hepatitis in haemophilia. Haemophilia 2001; 7: 339-345.
92. Alter HJ. Management of hepatitis virus infection. Haemophilia 2008; 14 (supl. 3): 26-32.