Haemophilia A and von Willebrand's disease

Haemophilia

Volumn 16, Issue SUPPL. 5, 2010, Pages 79-84

  Goodeve, A C ^a   Rosen S ^b   Verbruggen, B ^c  

^a UNIVERSITY OF SHEFFIELD   (United Kingdom)

^b Rossix   (Sweden)

^c RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

FVIII assay; Haemophilia A; Inhibitor; Nijmegen; Von Willebrand factor; Von Willebrand's disease

Indexed keywords

BLOOD CLOTTING FACTOR 10; BLOOD CLOTTING FACTOR 10A; BLOOD CLOTTING FACTOR 8; BLOOD CLOTTING FACTOR 8 INHIBITOR; CHROMOGENIC SUBSTRATE; DESMOPRESSIN; HEPARIN; LUPUS ANTICOAGULANT; POLYMER; RISTOCETIN; VON WILLEBRAND FACTOR;

BLOOD CLOTTING TEST; BLOOD GROUP ABO SYSTEM; ENZYME SPECIFICITY; GENE DELETION; HEMOPHILIA A; HUMAN; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NIJMEGEN METHOD; PRIORITY JOURNAL; REVIEW; SCORING SYSTEM; VON WILLEBRAND DISEASE;

BLOOD COAGULATION FACTOR INHIBITORS; ENZYME-LINKED IMMUNOSORBENT ASSAY; FACTOR VIII; HEMOPHILIA A; HUMANS; MUTATION; VON WILLEBRAND DISEASE, TYPE 1; VON WILLEBRAND FACTOR;

EID: 77955046895     PISSN: 13518216     EISSN: 13652516     Source Type: Journal    
DOI: 10.1111/j.1365-2516.2010.02303.x     Document Type: Review

References (27)

1. Sadler JE, Budde U, Eikenboom JC. Update on the pathophysiology and classification of von Willebrand disease: a report of the Subcommittee on von Willebrand Factor. J Thromb Haemost 2006, 4:2103-14.
2. Oldenburg J, El-Maarri O, Schwaab R. Inhibitor development in correlation to factor VIII genotypes. Haemophilia 2002, 8(Suppl. 2):23-9.
3. Margolius A, Jackson DP, Ratnoff OD. Circulating anticoagulants: a study of 40 cases and a review of the literature. Medicine (Baltimore) 1961, 40:145-202.
4. Cumming A, Grundy P, Keeney S. An investigation of the von Willebrand factor genotype in UK patients diagnosed to have type 1 von Willebrand disease. Thromb Haemost 2006, 96:630-41.
5. Goodeve A, Eikenboom J, Castaman G. Phenotype and genotype of a cohort of families historically diagnosed with type 1 von Willebrand disease in the European study, Molecular and Clinical Markers for the Diagnosis and Management of Type 1 von Willebrand Disease (MCMDM-1VWD). Blood 2007, 109:112-21.
6. James PD, Notley C, Hegadorn C. The mutational spectrum of type 1 von Willebrand disease: results from a Canadian cohort study. Blood 2007, 109:145-54.
7. Sadler JE. A revised classification of von Willebrand disease. For the Subcommittee on von Willebrand factor of the Scientific and Standardization Committee of the International Society on Thrombosis and Haemostasis. Thromb Haemost 1994, 71:520-5.
8. Tosetto A, Rodeghiero F, Castaman G. A quantitative analysis of bleeding symptoms in type 1 von Willebrand disease: results from a multicenter European study (MCMDM-1 VWD). J Thromb Haemost 2006, 4:766-73.
9. Sutherland MS, Cumming AM, Bowman M. A novel deletion mutation is recurrent in von Willebrand disease types 1 and 3. Blood 2009, 114:1091-8.
10. Budde U, Schneppenheim R, Eikenboom J. Detailed von Willebrand factor multimer analysis in patients with von Willebrand disease in the European study, molecular and clinical markers for the diagnosis and management of type 1 von Willebrand disease (MCMDM-1VWD). J Thromb Haemost 2008, 6:762-71.
11. James P, Hegadorn C, Grabell J. Comparative analysis of von Willebrand factor multimers from the Canadian type 1 VWD study. J Thromb Haemost 2009, 7(Suppl. 2):1-1268. PP-TH-639
12. Castaman G, Lethagen S, Federici AB. 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, 111:3531-9.
13. Rosen S, Andersson M, Blomback M. Clinical application of a chromogenic substrate method for determination of factor VIII activity. Thromb Haemost 1985, 54:818-23.
14. Roisin JP, Amiral J, Martinoli JL. Amidolytic assay of FVIII:C: influence of phospholipids. Thromb Haemost 1985, 54:250. abstract)
15. Kirschbaum N, Wood L, Lachenbruch P. Calibration of the Ph. Eur. BRP Batch 3/Mega 2 (US/FDA) standard for human coagulation factor VIII concentrate for use in the potency assay. Pharmeuropa Spec Issue Biol 2002, 2002:31-64.
16. de Maistre E, Wahl D, Perret-Guillaume C. A chromogenic assay allows reliable measurement of factor VIII levels in the presence of strong lupus anticoagulants. Thromb Haemost 1998, 79:237-8.
17. Barrowcliffe TW. Factor VIII and factor IX Sub-Committee. Recommendations for the assay of high-purity factor VIII concentrates. Thromb Haemost 1993, 70:876-7.
18. Mikaelsson M. FVIII assays. Int Mon Hemophilia 2000, 8:4-8.
19. Minutes from the 50th International Society on Thrombosis and Haemostasis Scientific and Standardization Committee Meeting 2004, http://www.isth.org, Available at
20. Hubbard AR, Sands D, Sandberg E, Seitz R, Barrowcliffe TW. A multi-centre collaborative study on the potency estimation of ReFacto. Thromb Haemost 2003, 90:1088-93.
21. Lethagen S, Östergaard H, Nilsson IM. Clinical application of the chromogenic assay of FVIII in haemophilia A and different variants of von Willebrand′s disease. Scand J Haematol 1986, 37:448-53.
22. 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, 94:400-6.
23. Brondke H, Herbiniaux U, Oldenburg J. FVIII assay discrepancy - hemophilia A variants escaping the two-stage assay. J Thromb Haemost 2009, 7(Suppl. 2):1-1204. AS-WE-002 (abstract)
24. 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, 73:247-51.
25. Verbruggen B, van Heerde WL, Laros-van Gorkom BA. Improvements in factor VIII inhibitor detection: from Bethesda to Nijmegen. Semin Thromb Hemost 2009, 35:752-9.
26. Regnault V, Stoltz JF. Quantitation of factor VIII antibodies by an enzyme-linked immunoassay method. Blood 1994, 83:1155-6.
27. Sahud MA, Pratt KP, Zhukov O, Qu K, Thompson AR. ELISA system for detection of immune responses to FVIII: a study of 246 samples and correlation with the Bethesda assay. Haemophilia 2007, 13:317-22.