Severe hemophilia with mild bleeding phenotype: molecular characterization and global coagulation profile

Aledort, 1994, A longitudinal study of orthopaedic outcomes for severe factor‐VIII‐deficient haemophiliacs, J Intern Med, 236, 391, 10.1111/j.1365-2796.1994.tb00815.x Aznar, 2000, The orthopaedic status of severe haemophiliacs in Spain, Haemophilia, 6, 170, 10.1046/j.1365-2516.2000.00397.x F8 HAMSTeRS mutation database. http://europium.csc.mrc.ac.uk. Accessed 3 December 2009. F9 mutation database. http://www.kcl.ac.uk/ip/petergreen/haemBdatabase.html. Accessed 3 December 2009. Arbini, 1995, Low prevalence of the factor V Leiden mutation among ‘severe’ hemophiliacs with a ‘milder’ bleeding diathesis, Thromb Haemost, 75, 1255 Nichols, 1996, Moderation of hemophilia A phenotype by the factor V R506Q mutation, Blood, 88, 1183, 10.1182/blood.V88.4.1183.bloodjournal8841183 Lee, 2000, Effect of the factor V Leiden mutation on the clinical expression of severe hemophilia A, Thromb Haemost, 83, 387, 10.1055/s-0037-1613824 Escuriola‐Ettingshausen, 2001, Symptomatic onset of severe hemophilia A in childhood is dependent on the presence of prothrombotic risk factors, Thromb Haemost, 85, 218, 10.1055/s-0037-1615679 Kurnik, 2007, Effects of the factor V G1691A mutation and the factor II G20210A variant on the clinical expression of severe hemophilia A in children – results of a multicenter study, Haematologica, 92, 982, 10.3324/haematol.11161 Shetty, 2007, Contribution of natural anticoagulant and fibrinolytic factors in modulating the clinical severity of haemophilia patients, Br J Haematol, 138, 541, 10.1111/j.1365-2141.2007.06693.x Van Dijk, 2007, Phenotype of severe hemophilia A and plasma levels of risk factors for thrombosis, J Thromb Haemost, 5, 1062, 10.1111/j.1538-7836.2007.02447.x Dargaud, 2005, Evaluation of thrombin generation capacity in plasma from patients with haemophilia A and B, Thromb Haemost, 93, 475, 10.1160/TH04-10-0706 Al Dieri, 2002, The thrombogram in rare inherited coagulation disorders: its relation to clinical bleeding, Thromb Haemost, 88, 576, 10.1055/s-0037-1613258 Chantarangkul, 2003, Thrombin generation assessed as endogenous thrombin potential in patients with hyper‐ or hypo‐coagulability, Haematologica, 88, 547 Beltràn‐Miranda, 2005, Thrombin generation and phenotypic correlation in haemophilia A, Haemophilia, 11, 326, 10.1111/j.1365-2516.2005.01107.x Gilbert, 1993, Prophylaxis: musculoskeletal evaluation, Semin Hematol, 30, 3 Pettersson, 1980, A radiologic classification of hemophilic arthropathy, Clin Orthop Relat Res, 149, 153, 10.1097/00003086-198006000-00018 Hemker, 2003, Calibrated automated thrombin generation measurement in clotting plasma, Pathophysiol Haemost Thromb, 33, 4, 10.1159/000071636 Margaglione, 2008, The Italian AICE‐Genetics hemophilia A database: results and correlation with clinical phenotype, Haematologica, 93, 722, 10.3324/haematol.12427 Belvini, 2005, Molecular genotyping of the Italian cohort of patients with hemophilia B, Haematologica, 90, 635 Van Dijk, 2005, Variability in clinical phenotype of severe haemophilia: the role of the first joint bleed, Haemophilia, 11, 438, 10.1111/j.1365-2516.2005.01124.x Nilsson, 1992, Twenty‐five years’ experience of prophylactic treatment in severe haemophilia A and B, J Intern Med, 232, 25, 10.1111/j.1365-2796.1992.tb00546.x Manco‐Johnson, 2007, Prophylaxis versus episodic treatment to prevent joint disease in boys with severe hemophilia, N Engl J Med, 357, 535, 10.1056/NEJMoa067659 Oldenburg, 1998, Small deletion/insertion mutations within poly‐A runs of the factor VIII gene mitigate the severe haemophilia phenotype, Thromb Haemost, 79, 452, 10.1055/s-0037-1615015 Young, 1997, Partial correction of a severe molecular defect in hemophilia A, because of errors during expression of the factor VIII gene, Am J Hum Genet, 60, 565 Ljung, 2001, Haemophilia B mutations in Sweden: a population‐based study of mutational heterogeneity, Br J Haematol, 113, 81, 10.1046/j.1365-2141.2001.02759.x Schulman, 2008, Validation of a composite score for clinical severity of hemophilia, J Thromb Haemost, 6, 1113, 10.1111/j.1538-7836.2008.03001.x Biss, 2008, The use of prophylaxis in 2663 children and adults with haemophilia: results of the 2006 Canadian national haemophilia prophylaxis survey, Haemophilia, 14, 923, 10.1111/j.1365-2516.2008.01810.x Tagariello, 2009, Comparison of the rates of joint arthroplasty in patients with severe factor VIII and IX deficiency: an index of different clinical severity of the 2 coagulation disorders, Blood, 114, 779, 10.1182/blood-2009-01-195313 Siegemund, 2003, Thrombin generation in severe haemophilia A and B: the endogenous thrombin potential in platelet‐rich plasma, Thromb Haemost, 90, 781, 10.1160/TH03-01-0027 Luddington, 2004, Clinical measurement of thrombin generation by calibrated automated thrombography requires contact factor inhibition, J Thromb Haemost, 2, 1954, 10.1111/j.1538-7836.2004.00964.x Spronk, 2009, Monitoring thrombin generation: is addition of corn trypsin inhibitor needed?, Thromb Haemost, 101, 1156, 10.1160/TH08-10-0670 Schwaab, 1995, Haemophilia A: mutation type determines risk of inhibitor formation, Thromb Haemost, 74, 1402, 10.1055/s-0038-1649954