SEARCH

SEARCH BY CITATION

References

  • 1
    White GC II, Rosendaal F, Aledort LM, Aledort LM, Lusher JM, Rothschild C, Ingerslev J, Factor VIII and Factor IX Subcommittee. 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.
  • 2
    Hoyer LW. Hemophilia A. N Engl J Med 1994; 330: 3847.
  • 3
    Mannucci PM, Tuddenham EGD. The hemophiliac – from royal genes to gene therapy. N Engl J Med 2001; 344: 17739.
  • 4
    Schulman S. Mild Hemophilia. Treatment of Hemophilia Monograph. World Federation of Hemophilia 2006; 41: 16. Available at: http://www.wfh.org/2/docs/Publications/Diagnosis_and_Treatment/TOH41_Mild-Hemophilia.pdf
  • 5
    Poon MC, Luke KH. Haemophilia care in China: achievements of a decade of World Federation of Hemophilia treatment centre twinning activities. Haemophilia 2008; 14: 87988.
  • 6
    Geraghty S, Dunkley T, Harrington C, Lindvall K, Maahs J, Sek J. Practice patterns in haemophilia A therapy – global progress towards optimal care. Haemophilia 2006; 12: 7581.
  • 7
    Iorio A, Oliovecchio E, Morfini M, Mannucci PM, Association of Italian Hemophilia Centres Directors. Italian Registry of Haemophilia and Allied Disorders. Objectives, methodology and data analysis. Haemophilia 2008; 14: 44453.
  • 8
    Walker I, Pai M, Akabutu J, Ritchie B, Growe G, Poon MC, Card R, Ali K, Israels S, Teitel J. The Canadian Hemophilia Registry as the basis for a national system for monitoring the use of factor concentrates. Transfusion 1995; 35: 54851.
  • 9
    Larsson SA, Nilsson IM, Blombäck M. Current status of Swedish hemophiliacs: a demographic survey. Acta Med Scand 1982; 212: 195200.
  • 10
    Tagliaferri A, Rivolta GF, Biasoli C, Valdré L, Rodorigo G, D’Incá M, Moratelli S, Albertini P, Vincenzi D, Arbasi MC, Marietta M, Pattacini C. A web-based registry of inherited bleeding disorders in the region of Emilia-Romagna: results at three and a half years. Haemophilia 2008; 14: 34354.
  • 11
    Venkateswaran L, Wilimas JA, Jones DJ, Nuss R. Mild hemophilia in children: prevalence, complications, and treatment. J Pediatr/Hematol Oncol 1998; 20: 325.
  • 12
    Chambost H, Gaboulaud V, Coatmélec B, Rafowicz A, Schneider P, Calvez T, Suivi thérapeutique National des Hémophiles (SNH) Group. What factors influence the age at diagnosis of hemophilia? Results of the French hemophilia cohort. J Pediatr 2002; 141: 54852.
  • 13
    Sakurai Y, Sugimoto H, Yoshida K, Tanaka I, Shima M, Tanaka Y, Takeda M, Nonomura A, Yoshioka A. Superficial fibromatosis mimicking subcutaneous hematoma: an unusual and difficult diagnosis in a patient with mild hemophilia A. Int J Hematol 2007; 85: 14.
  • 14
    Franchini M, Lippi G. Together we care: new challenges for global haemophilia treatment centers. Indian J Med Res 2009; 129: 3457.
  • 15
    Mauser-Bunschoten EP. Symptomatic carriers of hemophilia. Treatment of Hemophilia Monograph. World Federation of Hemophilia 2008; 46: 117.
  • 16
    Mauser Bunschoten EP, van Houwelingen JC, Sjamsoedin Visser EJM, van Dijken PJ, Kok AJ, Sixma JJ. Bleeding symptoms in carriers of hemophilia A and B. Thromb Haemost 1988; 59: 34952.
  • 17
    Plug I, Mauser-Bunschoten EP, Bröcker-Vriends AH, van Amstel HK, van der Bom JG, van Diemen-Homan JE, Willemse J, Rosendaal FR. Bleeding in carriers of hemophilia. Blood 2006; 108: 526.
  • 18
    Verbruggen B, Meijer P, Novákova I, van Heerde W. Diagnosis of factor VIII deficiency. Haemophilia 2008; 14 (Suppl. 3): 7682.
  • 19
    Begbie M, Notley C, Tinlin S, Sawyer L, Lillicrap D. The Factor VIII acute phase response requires the participation of NFkappaB and C/EBP. Thromb Haemost 2000; 84: 21622.
  • 20
    Jennings I, Kitchen DP, Woods TA, Kitchen S, Walker ID. Emerging technologies and quality assurance: the United Kingdom National External Quality Assessment Scheme perspective. Semin Thromb Hemost 2007; 33: 2439.
  • 21
    Favaloro EJ, Soltani S, McDonald J, Grezchnik E, Easton L. Cross-laboratory audit of normal reference ranges and assessment of ABO-blood group, gender and age on detected levels of plasma coagulation factors. Blood Coagul Fibrinolysis 2005; 16: 597605.
  • 22
    Miesbach W, Alesci S, Krekeler S, Seifried E. Age-dependent increase of FVIII:C in mild haemophilia A. Haemophilia 2009; 16: 10226.
  • 23
    Trossaert M, Regnault V, Sigaud M, Boisseau P, Fressinaud E, Lecompte T. Mild hemophilia A with factor VIII assay discrepancy: using thrombin generation assay to assess the bleeding phenotype. J Thromb Haemost 2008; 6: 48693.
  • 24
    Jacquemin M, De Maeyer M, D’Oiron R, Lavend’Homme R, Peerlinck K, Saint-Remy JM. Molecular mechanisms of mild and moderate hemophilia A. J Thromb Haemost 2003; 1: 45663.
  • 25
    D’Oiron R, Pipe SW, Jacquemin M. Mild/moderate haemophilia A: new insights into molecular mechanisms and inhibitor development. Haemophilia 2008; 14 (Suppl. 3): 13846.
  • 26
    Goodeve AC, Peake IR. The molecular basis of hemophilia A: genotype-phenotype relationships and inhibitor development. Semin Thromb Hemost 2003; 29: 2330.
  • 27
    Schwaab R, Oldenburg J, Schwaab U, Johnson DJ, Schmidt W, Olek K, Brackman HH, Tuddenham EG. Characterization of mutations within the factor VIII gene of 73 unrelated mild and moderate haemophiliacs. Br J Haematol 1995; 91: 45864.
  • 28
    Margaglione M, Castaman G, Morfini M, Rocino A, Santagostino E, Tagariello G, Tagliaferri AR, Zanon E, Bicocchi MP, Castaldo G, Peyvandi F, Santacroce R, Torricelli F, Grandone E, Mannucci PM, AICE-Genetics Study Group. The Italian AICE-Genetics hemophilia A database: results and correlation with clinical phenotype. Haematologica 2008; 93: 7228.
  • 29
    Gilbert G, Kaufman RJ, Arena AA, Miao H, Pipe SW. Four hydrophobic amino acids of the factor VIII C2 domain are constituents of both the membrane-binding and von Willebrand factor-binding motifs. J Biol Chem 2002; 277: 637481.
  • 30
    Arai M, Inaba H, Higuchi M, Antonarakis SE, Kazazian HH Jr, Fujimaki M, Hoyer LW. Direct characterization of factor VIII in plasma: detection of a mutation altering a thrombin cleavage site (arginine-372 – histidine). Proc Natl Acad Sci USA 1989; 86: 427781.
  • 31
    Gitschier J, Kogan S, Levinson B, Tuddenham EG. Mutations of factor VIII cleavage sites in hemophilia A. Blood 1988; 72: 10228.
  • 32
    Mumford AD, Laffan M, O’Donnell J, McVey JH, Johnson DJ, Manning RA, Kemball-Cook G. A Tyr346--≥Cys substitution in the interdomain acidic region a1 of factor VIII in an individual with factor VIII:C assay discrepancy. Br J Haematol 2002; 118: 58994.
  • 33
    Lyall H, Hill M, Westby J, Grimley C, Dolan G. Tyr346--≥Cys mutation results in factor VIII:C assay discrepancy and a normal bleeding phenotype – is this mild haemophilia A? Haemophilia 2008; 14: 7880.
  • 34
    Fay PJ, Jenkins PV. Mutating factor VIII: lessons from structure to function. Blood Rev 2005; 19: 1527.
  • 35
    Lenting PJ, van de Loo JW, Donath MJ, van Mourik JA, Mertens K. The sequence Glu1811-Lys1818 of human blood coagulation factor VIII comprises a binding site for activated factor IX. J Biol Chem 1996; 271: 193540.
  • 36
    Keeling DM, Sukhu K, Kemball-Cook G, Waseem N, Bagnall R, Lloyd JV. Diagnostic importance of the two-stage factor VIII:C assay demonstrated by a case of mild haemophilia associated with His1954[RIGHTWARDS ARROW]Leu substitution in the factor VIII A3 domain. Br J Haematol 1999; 105: 11236.
  • 37
    Schwaab R, Oldenburg J, Kemball-Cook G, Albert T, Juhler C, Hanfland P, Ingerslev J. Assay discrepancy in mild haemophilia A due to a factor VIII missense mutation (Asn694Ile) in a large Danish family. Br J Haematol 2000; 109: 5238.
  • 38
    Rodgers SE, Duncan EM, Barbulescu DM, Quinn DM, Lloyd JV. In vitro kinetics of factor VIII activity in patients with mild haemophilia A and a discrepancy between one-stage and two-stage factor VIII assay results. Br J Haematol 2007; 136: 13845.
  • 39
    Nesbitt IM, Hinks J, Sampson B, Kitchen S, Peake I, makris M, Goodeve A. Discrepant one and two stage FVIII assays are very common in mild haemophilia A: correlation with FVIII gene mutations. Thromb Haemost 2001; (Suppl.): Abstract OC195.
  • 40
    Rudzki Z, Duncan EM, Casey GJ, Neumann M, Favaloro EJ, Lloyd JV. Mutations in a subgroup of patients with mild haemophilia A and a familial discrepancy between the one-stage and two-stage factor VIII:C methods. Br J Haematol 1996; 94: 4006.
  • 41
    Pipe SW, Eickhorst AN, McKinley SH, Saenko EL, Kaufman RJ. Mild hemophilia A caused by increased rate of factor VIII A2 subunit dissociation: evidence for nonproteolytic inactivation of factor VIIIa in vivo. Blood 1999; 93: 17683.
  • 42
    Pipe SW, Saenko EL, Eickhorst AN, Kemball-Cook G, Kaufman RJ. Haemophilia A mutations associated with 1-stage/2-stage activity discrepancy disrupt protein- protein interactions within the triplicated A domains of thrombin-activated factor VIIIa. Blood 2001; 97: 68591.
  • 43
    Hakeos WH, Miao H, Sirachainan N, Kemball-Cook G, Saenko EL, Kaufman RJ, Pipe SW. Hemophilia A mutations within the factor VIII A2-A3 subunit destabilize factor VIIIa and cause one-stage/two-stage activity discrepancy. Thromb Haemost 2002; 88: 7817.
  • 44
    Cid AR, Casaña P, Cabrera N, Haya S, Cortina V, Aznar JA. Inhibitor development in one patient and laboratory discrepancies in several families with both mild haemophilia and Arg531Cys mutation. Haemophilia 2007; 13: 2068.
  • 45
    Cid AR, Calabuig M, Cortina V, Casaña P, Haya S, Moret A, Cabrera N, Aznar JA. One-stage and chromogenic FVIII:C assay discrepancy in mild haemophilia A and the relationship with the mutation and bleeding phenotype. Haemophilia 2008; 14: 104954.
  • 46
    Liu ML, Shen BW, Nakaya S, Pratt KP, Fujikawa K, Davie EW, Stoddard BL, Thompson AR. Hemophilic factor VIII C1- and C2-domain missense mutations and their modeling to the 1.5-angstrom human C2-domain crystal structure. Blood 2000; 96: 97987.
  • 47
    Jacquemin M, Lavend’homme R, Benhida A, Vanzieleghem B, d’Oiron R, Lavergne JM, Brackmann HH, Schwaab R, VandenDriessche T, Chuah MK, Hoylaerts M, Gilles JG, Peerlinck K, Vermylen J, Saint-Remy JM. A novel cause of mild/moderate hemophilia A: mutations scattered in the factor VIII C1 domain reduce factor VIII binding to von Willebrand factor. Blood 2000; 96: 95865.
  • 48
    Michnick DA, Pittman DD, Wise RJ, Kaufman RJ. Identification of individual tyrosine sulfation sites within factor VIII required for optimal activity and efficient thrombin cleavage. J Biol Chem 1994; 269: 20095102.
  • 49
    Pavlova A, Brondke H, Müsebeck J, Pollmann H, Srivastava A, Oldenburg J. Molecular mechanisms underlying hemophilia A phenotype in seven females. J Thromb Haemost 2009; 7: 97682.
  • 50
    Goodeve A. Molecular genetic testing of hemophilia A. Semin Thromb Hemost 2008; 34: 491501.
  • 51
    Ay C, Thom K, Abu-Hamdeh F, Horvath B, Quehenberger P, Male C, Mannhalter C, Pabinger I. Determinants of factor VIII plasma levels in carriers of haemophilia A and in control women. Haemophilia 2009; DOI: 10.1111/j.1365-2516.2009.02108.x.
  • 52
    Favaloro EJ, Mohammed S, Koutts J. Identification and prevalence of von Willebrand disease type 2N (Normandy) in Australia. Blood Coagul Fibrinolysis 2009; 20: 70614.
  • 53
    Franchini M, Lippi G. Recent acquisitions in acquired and congenital von Willebrand disorders. Clin Chim Acta 2007; 377: 629.
  • 54
    Rodgers SE, Lerda NV, Favaloro EJ, Duncan EM, Casey GJ, Quinn DM, Hertzberg M, Lloyd JV. Identification of von Willebrand’s disorder type 2N (Normandy) in Australia: a cross-laboratory investigation using different methodologies. Am J Clin Pathol 2002; 118: 26976.
  • 55
    Favaloro EJ. Laboratory identification of von Willebrand Disease: technical and scientific perspectives. Semin Thromb Hemost 2006; 32: 45671.
  • 56
    James P, Lillicrap D. The role of molecular genetics in diagnosing von Willebrand disease. Semin Thromb Hemost 2008; 34: 5028.
  • 57
    Franchini M, Tagliaferri A, Mannucci PM. The management of hemophilia in elderly patients. Clin Interv Aging 2007; 2: 3618.
  • 58
    Soucie JM, Nuss R, Evatt B, Abdelhak A, Cowan L, Hill H, Kolakoski M, Wilber N. Mortality among males with hemophilia: relations with source of medical care. The Hemophilia Surveillance System Project Investigators. Blood 2000; 96: 43742.
  • 59
    Ramgren O. A clinical and medico-social study of haemophilia in Sweden. Acta Med Scand 1962; 171: 11190.
  • 60
    Forbes CD, Prentice CRM. Mortality in Haemophilia – A United Kingdom Survey. Washington, DC: US Department of Health and Education and Welfare [DHEW publication No. (NIH)77-1089], 1976.
  • 61
    Larsson SA. Hemophilia in Sweden. Studies on demography of hemophilia and surgery in hemophilia and von Willebrand’s disease. Acta Med Scand Suppl 1984; 684: 172.
  • 62
    Reitter S, Waldhoer T, Vutuc C, Lechner K, Pabinger I. Survival in a cohort of patients with haemophilia at the haemophilia care center in Vienna, Austria, from 1983 to 2006. Haemophilia 2009; 15: 88893.
  • 63
    Mejia-Carvajal C, Czapek EE, Valentino LA. Life expectancy in hemophilia outcome. J Thromb Haemost 2006; 4: 5079.
  • 64
    Diamondstone LS, Aledort LM, Goedert JJ, Multicentre Hemophilia Cohort Study. Factors predictive of death among HIV-uninfected persons with haemophilia and other congenital coagulation disorders. Haemophilia 2002; 8: 6607.
  • 65
    Triemstra M, Rosendaal FR, Smit C, van der Ploeg HM, Briet E. Mortality in patients with hemophilia. Changes in a Dutch population from 1986 to 1992 and 1973 to 1986. Ann Intern Med 1995; 123: 8237.
  • 66
    Darby SC, Ewart DW, Giangrande PL, Dolin PJ, Spooner RJ, Rizza CR. Mortality before and after HIV infection in the complete UK population of haemophiliacs. UK Haemophilia Centre Directors’ Organisation. Nature 1995; 377: 7982.
  • 67
    Koumbarelis E, Rosendaal FR, Gialeraki A, Karafoulidou A, Noteboom WM, Loizou C, Panayotopoulou C, Markakis C, Mandalaki T. Epidemiology of haemophilia in Greece: an overview. Thromb Haemost 1994; 72: 80813.
  • 68
    Darby SC, Ewart DW, Giangrande PL, Spooner RJ, Rizza CR, Dusheiko GM, Lee CA, Ludlam CA, Preston FE. Mortality from liver cancer and liver disease in haemophilic men and boys in UK given blood products contaminated with hepatitis C. UK Haemophilia Centre Directors’ Organisation. Lancet 1997; 350: 142531.
  • 69
    Darby SC, Kan SW, Spooner RJ, Giangrande PL, Lee CA, Makris M, Sabin CA, Watson HG, Wilde JT, Winter M, UK Haemophilia Centre Doctors’ Organisation. The impact of HIV on mortality rates in the complete UK haemophilia population. AIDS 2004; 18: 52533.
  • 70
    Plug I, van der Bom JG, Peters M, Mauser-Bunschoten EP, De Goede-Bolder A, Heijnen L, Smit C, Willemse J, Rosendaal FR. Mortality and causes of death in patients with hemophilia, 1992–2001: a prospective cohort study. Thromb Haemost 2006; 4: 5106.
  • 71
    Ghirardini A, Schinaia N, Chiarotti F, de Biasi R, Todeghiero F, Binkin G, for the GICC. Epidemiology of hemophilia and of HIV infection in Italy. J Clin Epidemiol 1994; 47: 1297306.
  • 72
    Walker IR, Julian JA. Causes of death in Canadians with haemophilia 1980–1995. Association of Hemophilia Clinic Directors of Canada. Haemophilia 1998; 4: 71420.
  • 73
    Rosendaal FR, Varekamp I, Smit C, Bröcker-Vriends AH, van Dijck H, Vandenbroucke JP, Hermans J, Suurmeijer TP, Briët E. Mortality and causes of death in Dutch haemophiliacs, 1973–86. Br J Haematol 1989; 71: 716.
  • 74
    Dolan G, Hermans C, Klamroth R, Madhok R, Schutgens RE, Spengler U. Challenges and controversies in haemophilia care in adulthood. Haemophilia 2009; 15 (Suppl. 1): 207.
  • 75
    Tuinenburg A, Mauser-Bunschoten EP, Verhaar MC, Biesma DH, Schutgens RE. Cardiovascular disease in patients with hemophilia. J Thromb Haemost 2009; 7: 24754.
  • 76
    Mauser-Bunschoten EP, Fransen van de Putte DE, Schutgens RE. Co-morbidity in the ageing haemophilia patient: the down side of increased life expectancy. Haemophilia 2009; 15: 8536.
  • 77
    Franchini M, Favaloro EJ, Lippi G. Hemophilia, cancer and cardiovascular disease. Blood Coagul Fibrinolysis 2010; 21: 12.
  • 78
    Darby SC, Kan SW, Spooner RJ, Giangrande PL, Hill FG, Hay CR, Lee CA, Ludlam CA, Williams M. Mortality rates, life expectancy, and causes of death in people with hemophilia A or B in the United Kingdom who were not infected with HIV. Blood 2007; 110: 81525.
  • 79
    Šrámek A, Kriek M, Rosendaal FR. Decreased mortality of ischemic heart disease among carriers of hemophilia. Lancet 2003; 362: 3514.
  • 80
    Kulkarni R, Soucie JM, Evatt BL, Hemophilia Surveillance System Project Investigators. Prevalence and risk factors for heart disease among males with hemophilia. Am J Hematol 2005; 79: 3642.
  • 81
    Walsh M, Macgregor D, Stuckless S, Barrett B, Kawaja M, Scully MF. Health-related quality of life in a cohort of adult patients with mild hemophilia A. J Thromb Haemost 2008; 6: 75561.
  • 82
    Khallou-Laschet J, Caligiuri G, Tupin E, Gaston AT, Poirier B, Groyer E, Urbain D, Maisnier-Patin S, Sarkar R, Kaveri SV, Lacroix-Desmazes S, Nicoletti A. Role of the intrinsic coagulation pathway in atherogenesis assessed in hemophilic apolipoprotein E knockout mice. Arterioscler Thromb Vasc Biol 2005; 25: e1236.
  • 83
    Bilora F, Boccioletti V, Zanon E, Petrobelli F, Girolami A. Hemophilia A, von Willebrand disease, and atherosclerosis of abdominal aorta and leg arteries: factor VIII and von Willebrand factor defects appear to protect abdominal aorta and leg arteries from atherosclerosis. Clin Appl Thromb Hemost 2001; 7: 3113.
  • 84
    Bilora F, Zanon E, Petrobelli F, Cavraro M, Prandoni P, Pagnan A, Girolami A. Does hemophilia protect against atherosclerosis? A case-control study. Clin Appl Thromb Hemost 2006; 12: 1938.
  • 85
    Sramek A, Reiber JH, Gerrits WB, Rosendaal FR. Decreased coagulability has no clinically relevant effect on atherogenesis: observations in individuals with a hereditary bleeding tendency. Circulation 2001; 104: 7627.
  • 86
    Sartori MT, Varvarikis C, Saggiorato G, Campagnolo E, Pagnan A, Cella G. Endothelial dysfunction in haemophilia patients. Haemophilia 2008; 14: 105562.
  • 87
    Girolami A, Ruzzon E, Fabris F, Varvarikis C, Sartori R, Girolami B. Myocardial infarction and other arterial occlusions in hemophilia A patients. Acta Haematol 2006; 116: 1205.
  • 88
    Mackinlay N, Taper J, Renisson F, Rickard K. Cardiac surgery and catheterization in patients with haemophilia. Haemophilia 2000; 6: 848.
  • 89
    Schutgens REG, Tuinenburg A, Roosendaal G, Guyomi SH, Mauser-Bunschoten EP. Treatment of ischaemic heart disease in haemophilia patients: an institutional guideline. Haemophilia 2009; 15: 9528.
  • 90
    Franchini M, Lippi G. Are hemophiliacs protected against cancer development? Prospective controlled studies are needed. J Cell Mol Med 2009; 13: 1185.
  • 91
    Franchini M, Lippi G, Montagnana M, Targher G, Zaffanello M, Salvagno GL, Rivolta GF, Di Perna C, Tagliaferri A. Hemophilia and cancer: a new challenge for hemophilia centers. Cancer Treat Rev 2009; 35: 3747.
  • 92
    Wight J, Paisley S. The epidemiology of inhibitors in haemophilia A: a systematic review. Haemophilia 2003; 9: 41835.
  • 93
    Gouw SC, van den Berg HM. The multifactorial etiology of inhibitor development in hemophilia: genetics and environment. Semin Thromb Hemost 2009; 35: 72334.
  • 94
    Hay CRM. Factor VIII inhibitors in mild and moderate-severity haemophilia A. Haemophilia 1998; 4: 55863.
  • 95
    Franchini M, Salvagno GL, Lippi G. Inhibitors in mild/moderate haemophilia: an update. Thromb Haemost 2006; 96: 1138.
  • 96
    Peerlinck K, Jacquemin M. Characteristics of inhibitors in mild/moderate haemophilia A. Haemophilia 2006; 12 (Suppl. 6): 437.
  • 97
    Ehrenforth S, Kreuz W, Scharrer I, Kornhuber B. Incidence of development of factor VIII and factor IX inhibitors in haemophiliacs. Lancet 1992; 339: 5948.
  • 98
    Addiego J, Kasper C, Abildgaard C, Hilgartner M, Lusher J, Glader B, Aledort L. Frequency of inhibitor development in haemophiliacs treated with low-purity factor VIII. Lancet 1993; 342: 4624.
  • 99
    Sultan Y. Prevalence of inhibitors in a population of 3435 hemophilia patients in France. French Hemophilia Study Group. Thromb Haemost 1992; 67: 6002.
  • 100
    McMillan CW, Shapiro SS, Whitehurst D, Hoyer LW, Rao AV, Lazerson J. The natural history of factor VIII:C inhibitors in patients with hemophilia A: a national cooperative study. II. Observations on the initial development of factor VIII:C inhibitors. Blood 1988; 71: 3448.
  • 101
    Hay CRM, Ludlam CA, Colvin BT, Hill FG, Preston FE, Wasseem N, Bagnall R, Peake IR, Berntorp E, Mauser Bunschoten EP, Fijnvandraat K, Kasper CK, White G, Santagostino E. Factor VIII inhibitors in mild and moderate-severity haemophilia A. UK Haemophilia Centre Directors Organisation. Thromb Haemost 1998; 79: 7626.
  • 102
    Lechner K, Ludwig E, Niessner H, Thaler E. Factor VIII inhibitor in a patient with mild hemophilia A. Haemostasis 197273; 1: 26170.
  • 103
    Bovill EG, Burns SL, Golden EA. Factor VIII antibody in a patient with mild haemophilia. Br J Haematol 1985; 61: 3238.
  • 104
    White B, Cotter M, Byrne M, O’Shea E, Smith OP. High responding factor VIII inhibitors in mild haemophilia – is there a link with recent changes in clinical practice? Haemophilia 2000; 6: 1135.
  • 105
    Hay CRM, Lee CA. Inhibitors in mild and moderate haemophilia A. In: Lee CA, Berntorp E, Hoots WK, ed. Inhibitors in patients with haemophilia. Oxford: Blackwell Publishing, 2002: 927.
  • 106
    Astermark J, Berntorp E, White GC, Kroner BL. The Malmo International Brother Study (MIBS): further support for genetic predisposition to inhibitor development in hemophilia patients. Haemophilia. 2001; 7: 26772.
  • 107
    Franchini M, Girelli D, Olivieri O, Castaman G, Lippi G, Poli G, Salvagno GL, Tagariello G, Giuffrida A, de Gironcoli M, Morfini M, Berntorp E, Gandini G. Tyr2105Cys mutation in exon 22 of FVIII gene is a risk factor for the development of inhibitors in patients with mild/moderate haemophilia A. Haemophilia 2006; 12: 44851.
  • 108
    Giuffrida A, Genesini S, Franchini M, De Gironcoli M, Aprili G, Gandini G. Inhibitors in mild/moderate haemophilia A: two case reports and a literature review. Blood Transfus 2008; 6: 1638.
  • 109
    Naylor JA, Green PM, Rizza CR, Giannelli F. Analysis of factor VIII mRNA reveals defects in everyone of 28 haemophilia A patients. Hum Mol Genet 1993; 2: 117.
  • 110
    Knobe KE, Villoutreix BO, Tengborn LI, Petrini P, Ljung RC. Factor VIII inhibitors in two families with mild haemophilia A: structural analysis of the mutations. Haemostasis 2000; 30: 26879.
  • 111
    Fernandez-Lopez O, Garcia-Lozano JR, Nunez-Vazquez R, Pérez-Garrido R, Núñez-Roldán A. The spectrum of mutations in Southern Spanish patients with hemophilia A and identification of 28 novel mutations. Haematologica 2005; 90: 70710.
  • 112
    Cutler JA, Mitchell MJ, Smith MP, Savidge GF. The identification and classification of 41 novel mutations in the factor VIII gene (F8C). Hum Mutat 2002; 19: 2748.
  • 113
    Schwaab R, Oldenburg J, Schwaab U, Johnson DJ, Schmidt W, Olek K, Brackman HH, Tuddenham EG. Characterization of mutations within the factor VIII gene of 73 unrelated mild and moderate haemophiliacs. Br J Haematol 1995; 90: 45864.
  • 114
    Fijnvandraat K, Turenhout EA, van den Brink EN, ten Cate JW, van Mourik JA, Peters M, Voorberg J. The missense mutation Arg593 --> Cys is related to antibody formation in a patient with mild hemophilia A. Blood 1997; 89: 43717.
  • 115
    Thompson AR, Murphy ME, Liu M, Saenko EL, Healey JF, Lollar P, Scandella D. Loss of tolerance to exogenous and endogenous factor VIII in a mild hemophilia A patient with an Arg593 to Cys mutation. Blood 1997; 90: 190210.
  • 116
    Suzuki H, Shima M, Arai M, Kagawa K, Fukutake K, Kamisue S, Nakai H, Morichika S, Tanaka I, Inoue M, Gale K, Tuddenham EG, Yoshioka A. Factor VIII Ise (R2159C) in a patient with mild hemophilia A, an abnormal factor VIII with retention of function but modification of C2 epitopes. Thromb Haemost 1997; 77: 8627.
  • 117
    Peerlinck K, Jacquemin MG, Arnout J, Hoylaerts MF, Gilles JG, Lavend’homme R, Johnson KM, Freson K, Scandella D, Saint-Remy JM, Vermylen J. Antifactor VIII antibody inhibiting allogeneic but not autologous factor VIII in patients with mild hemophilia A. Blood 1999; 93: 226773.
  • 118
    Oldenburg J, Schroder J, Hermann Brackmann H, Muller-Reible C, Schwaab R, Tuddenham E. Environmental and genetic factors influencing inhibitor development. Semin Hematol 2004; 41 (Suppl. 1): 828.
  • 119
    Baglin T, Beacham E. Is a change of factor VIII product a risk factor for the development of a factor VIII inhibitor? Thromb Haemost 1998; 80: 10367.
  • 120
    Yee TT, Lee CA. Is a change of factor VIII product a risk factor for the development of a factor VIII inhibitor? Thromb Haemost 1999; 81: 852.
  • 121
    Sharathkumar A, Lillicrap D, Blanchette VS, Kern M, Leggo J, Stain AM, Brooker L, Carcao MD. Intensive exposure to factor VIII is a risk factor for inhibitor development in mild hemophilia A. J Thromb Haemost 2003; 1: 122836.
  • 122
    von Auer CH, Oldenburg J, von Depka M, Escuriola-Ettinghausen C, Kurnik K, Lenk H, Scharrer I. Inhibitor development in patients with hemophilia A after continuous infusion of FVIII concentrates. Ann N Y Acad Sci 2005; 1051: 498505.
  • 123
    Batorova A, Martinowitz U. Continuous infusion of coagulation factors. Haemophilia 2002; 8: 1707.
  • 124
    Eckhardt CL, Menke LA, van Ommen CH, van der Lee JH, Geskus RB, Kamphuisen PW, Peters M, Fijnvandraat K. Intennsive peri-operative use of factor VIII and the Arg593-->Cys mutation are risk factors for inhibitor development in mild/moderate hemophilia A. J Thromb Haemost 2009; 7: 9307.
  • 125
    Kershaw G, Jayakodi D, Dunkley S. Laboratory identification of factor inhibitors: the perspective of a large tertiary hemophilia centre. Semin Thromb Hemost 2009; 35: 7608.
  • 126
    Kasper CK, Aledort L, Aronson D, Counts R, Edson JR, van Eys J, Fratantoni J, Green D, Hampton J, Hilgartner M, Levine P, Lazerson J, McMillan C, Penner J, Shapiro S, Shulman NR. A more uniform measurement of factor VIII inhibitors. Thromb Diath Haemorrh 1975; 34: 86972.
  • 127
    Verbruggen B, Novakova I, Wessels H, Boezeman J, van den Berg M, Mauser-Bunschoten E. The Nijmegen modification of the Bethesda assay for factor VIII:C inhibitors: improved specificity and reliability. Thromb Haemost 1995; 73: 24751.
  • 128
    Favaloro EJ, Bonar R, Kershaw G, Duncan E, Sioufi J, Marsden K. Investigations from external quality assurance programs reveal a high degree of variation in the laboratory identification of coagulation factor inhibitors. Semin Thromb Hemost 2009; 35: 794805.
  • 129
    Franchini M. The use of desmopressin as a hemostatic agent. Am J Hematol 2007; 82: 7315.
  • 130
    Mannucci PM. Desmopressin (DDAVP) in the treatment of bleeding disorders: the first twenty years. Haemophilia 2000; 6 (Suppl. 1): 607.
  • 131
    Mariani G, Ciavarella N, Mazzucconi MG, Antoncecchi S, Solinas S, Ranieri P, Pettini P, Agrestini F, Mandelli F. Evaluation of the effectiveness of DDAVP in surgery and bleeding episodes in hemophilia and von Willebrand disease. A study of 43 patients. Clin Lab Haematol 1984; 6: 22938.
  • 132
    de la Fuente B, Kasper CK, Rickles FR, Hoyer LW. Response of patients with mild and moderate hemophilia A and von Willebrand disease to treatment with desmopressin. Ann Intern Med 1985; 103: 614.
  • 133
    Villar A, Jimenez-Yuste V, Quintana M, Hernandez-Navarro F. The use of haemostatic drugs in haemophilia: Desmopressin and antifibrinolytic agents. Haemophilia 2002; 8: 18993.
  • 134
    Lethagen S. Desmopressin in mild hemophilia A: Indications, limitations, efficacy, and safety. Semin Thromb Hemost 2003; 29: 1016.
  • 135
    Mannucci PM, Vicente V, Alberca I, Sacchi E, Longo G, Harris AS, Lindquist A. Intravenous and subcutaneous administration of desmopressin (DDAVP) to hemophiliacs: Pharmacokinetics and factor VIII responses. Thromb Haemost 1987; 58: 10379.
  • 136
    Revel-Vilk S, Blanchette VS, Sparling C, Stain AM, Carcao MD. DDAVP challenge tests in boys with mild/moderate haemophilia A. Br J Haematol 2002; 117: 94751.
  • 137
    Nolan B, White B, Smith J, O’Reilly C, McMahon C, Fitzpatrick B, Smith OP. Desmopressin: therapeutic limitations in children and adults with inherited coagulation disorders. Br J Haematol 2000; 109: 8659.
  • 138
    Castaman G. Desmopressin for the treatment of haemophilia. Haemophilia 2008; 14 (Suppl. 1): 1520.
  • 139
    Smith TJ, Gill JC, Ambroso DR, Hathaway WE. Hyponatremia and seizures in young children given DDAVP. Am J Hematol 1989; 31: 199202.
  • 140
    Ray JG. DDAVP use during pregnancy: an analysis of its safety for mother and child. Obstet Gynecol Surv 1998; 53: 4505.
  • 141
    Mannucci PM. Use of desmopressin (DDAVP) during early pregnancy in FVIII-deficient women. Blood 2005; 105: 3382.
  • 142
    Castaman G, Mancuso ME, Giacomelli SH, Tosetto A, Santagostino E, Mannucci PM, Rodeghiero F. Molecular and phenotypic determinants of response to desmopressin in adult patients with mild hemophilia A. J Thromb Haemost 2009; 7: 182431.
  • 143
    Riccardi F, Rivolta GF, Franchini M, Pattacini C, Neri TM, Tagliaferri A. Characterization of a novel mutation in the F8 promoter region associated with mild hemophilia A and resistance to DDAVP therapy. J Thromb Haemost 2009; 7: 12345.
  • 144
    Castaman G, Lethagen S, Federici AB, Tosetto A, Goodeve A, Budde U, Batlle J, Meyer D, Mazurier C, Fressinaud E, Goudemand J, Eikenboom J, Schneppenheim R, Ingerslev J, Vorlova Z, Habart D, Holmberg L, Pasi J, Hill F, Peake I, et al. Response to desmopressin is influenced by the genotype and phenotype in type 1 von Willebrand disease (VWD): results from the European Study MCMDM-1VWD. Blood 2008; 111: 35319.
  • 145
    Aledort LM. Mild and moderate factor VIII deficiency: inhibitor risks. J Thromb Haemost 2009; 7: 9289.
  • 146
    Aledort LM. Can we prevent inhibitors in mild and moderate factor VIII-deficient patients? J Thromb Haemost 2006; 4: 914.
  • 147
    Mannucci PM. Hemostatic drugs. N Engl J Med 1998; 339: 24553.
  • 148
    Santagostino E, Mannucci PM. Guidelines on replacement therapy for haemophilia and inherited coagulation disorders in Italy. Haemophilia 2000; 6: 110.
  • 149
    Sindet-Pedersen S, Stenbjerg S. Effect of local antifibrinolytic treatment with tranexamic acid in hemophiliacs undergoing oral surgery. J Oral Maxillofac Surg 1986; 44: 7037.
  • 150
    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: 67184.
  • 151
    Lippi G, Franchini M, Favaloro EJ. One-stage clotting versus chromogenic assays for assessing recombinant factor VIII: two faces of a haemostasis coin. Blood Coagul Fibrinolysis 2009; 20: 13.
  • 152
    Robbins D, Kulkarni R, Gera R, Scott-Emuakpor AB, Bosma K, Penner JA. Successful treatment of high titer inhibitors in mild hemophilia A with avoidance of factor VIII and immunosuppressive therapy. Am J Hematol 2001; 68: 1848.
  • 153
    Leebeek FW, Kappers-Klunne MC, Jie KS. Effective and safe use of recombinant factor VIIa (NovoSeven) in elderly mild haemophilia A patients with high-titre antibodies against factor VIII. Haemophilia 2004; 10: 2503.
  • 154
    Vlot AJ, Wittebol S, Strengers PF, Turenhout EA, Voorberg J, van den Berg HM, Mauser-Bunschoten EP. Factor VIII inhibitor in a patient with mild haemophilia A and an Asn618-->Ser mutation responsive to immune tolerance induction and cyclophosphamide. Br J Haematol 2002; 117: 13640.
  • 155
    Wiestner A, Cho HJ, Asch AS, Michelis MA, Zeller JA, Peerschke EI, Weksler BB, Schechter GP. Rituximab in the treatment of acquired factor VIII inhibitors. Blood 2002; 100: 34268.
  • 156
    Franchini M, Veneri D, Lippi G, Stenner R. The efficacy of rituximab in the treatment of inhibitor-associated hemostatic disorders. Thromb Haemost 2006; 96: 11925.
  • 157
    Franchini M, Mengoli C, Lippi G, Targher G, Montagnana M, Salvagno GL, Zaffanello M, Cruciani M. Immune tolerance with rituximab in congenital haemophilia with inhibitors: a systematic literature review based on individual patients’ analysis. Haemophilia 2008; 14: 90312.
  • 158
    Favaloro EJ. Genetic testing for von Willebrand disease: the case against. J Thromb Haemost 2010; 8: 612.