Measurement of von willebrand factor-FVIII binding activity in patients with suspected von willebrand disease type 2N: Application of an ELISA-based assay in a reference laboratory

Haemophilia

Volumn 15, Issue 3, 2009, Pages 788-796

  Zhukov, O ^a   Popov, J ^a   Ramos, R ^a   Vause, C ^a   Ruden, S ^a   Sferruzza, A ^a   Dlott, J ^a   Sahud, Mervyn ^a  

^a QUEST DIAGNOSTICS NICHOLS INSTITUTE   (United States)

Author keywords

Von Willebrand disease type 2N (Normandy); Von Willebrand factor; Von Willebrand factor Factor VIII binding activity assay

Indexed keywords

BLOOD CLOTTING FACTOR 8; VON WILLEBRAND FACTOR;

ADULT; AGED; ARTICLE; BINDING AFFINITY; CLINICAL LABORATORY; CONTROLLED STUDY; DIAGNOSTIC ACCURACY; DIAGNOSTIC VALUE; ENZYME LINKED IMMUNOSORBENT ASSAY; FEMALE; GENE MUTATION; GENOTYPE; HETEROZYGOTE DETECTION; HOMOZYGOSITY; HUMAN; INCUBATION TIME; LABORATORY DIAGNOSIS; MAJOR CLINICAL STUDY; MALE; PRIORITY JOURNAL; PROCESS OPTIMIZATION; QUANTITATIVE ANALYSIS; REFERENCE VALUE; VALIDATION PROCESS; VON WILLEBRAND DISEASE;

BLOOD COAGULATION TESTS; ENZYME-LINKED IMMUNOSORBENT ASSAY; FEMALE; HUMANS; LABORATORY TECHNIQUES AND PROCEDURES; MALE; MUTATION; PROTEIN BINDING; REPRODUCIBILITY OF RESULTS; VON WILLEBRAND DISEASES; VON WILLEBRAND FACTOR;

EID: 65449135491     PISSN: 13518216     EISSN: 13652516     Source Type: Journal    
DOI: 10.1111/j.1365-2516.2009.01995.x     Document Type: Article

References (26)

1. Sadler JE, Mannucci PM, Berntorp E et al. Impact, diagnosis and treatment of von Willebrand disease. Thromb Haemost 2000; 84: 160-74.
2. Sadler JE, Budde U, Eikenboom JC et al. The Working Party on von Willebrand Disease Classification. 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.
3. Weiss HJ, Sussman II, Hoyer LW. Stabilization of factor VIII in plasma by the von Willebrand factor. Studies on posttransfusion and dissociated factor VIII and in patients with von Willebrand's disease. J Clin Invest 1977; 60: 390-404.
4. Mazurier C. von Willebrand disease masquerading as haemophilia A. Thromb Haemost 1992; 67: 391-6.
5. Mazurier C, Meyer D. Factor VIII binding assay of von Willebrand factor and the diagnosis of type 2N von Willebrand disease-results of an international survey. On behalf of the Subcommittee on von Willebrand Factor of the Scientific and Standardization Committee of the ISTH. Thromb Haemost 1996; 76: 270-4.
6. James P, Lillicrap D. Genetic testing for von Willebrand disease: The Canadian experience. Semin Thromb Hemost 2006; 32: 546-52.
7. Published online at http://www.vwf.group.shef.ac.uk/vwd.html. Maintained by D. Hampshire at the University of Sheffield, United Kingdom (last accessed on 15 May 2008).
8. Nishino M, Girma JP, Rothschild C, Fressinaud E, Meyer D. New variant of von Willebrand disease with defective binding to factor VIII. Blood 1989; 74: 1591-9.
9. Casonato A, Pontara E, Zerbinati P, Zucchetto A, Girolami A. The evaluation of factor VIII binding activity of von Willebrand factor by means of an ELISA method: Significance and practical implications. Am J Clin Pathol 1998; 109: 347-52.
10. Caron C, Mazurier C, Goudemand J. Large experience with a factor VIII binding assay of plasma von Willebrand factor using commercial reagents. Br J Haematol 2002; 117: 716-8.
11. Mazurier C. Something new about type Normandy von Willebrand disease (type 2N VWD)? Thromb Haemost 2004; 92: 1-2.
12. Taylor SL, Bromidge E, Savidge GF, Alhaq A. Evaluation of an automated screening assay for von Willebrand disease type 2N. Clin Lab Haematol 2002; 24: 369-75.
13. Jacquemin M, Lavend'homme R, Benhida A et al. 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: 958-65.
14. Mazurier C, Gaucher C, Jorieux S, Goudemand M. Biological effect of desmopressin in eight patients with type 2N ('Normandy') von Willebrand disease. Br J Haematol 1994; 88: 849-54.
15. Casonato A, Pontara E, Sartorello F et al. Identifying carriers of type 2N von Willebrand disease: Procedures and significance. Clin Appl Thromb Hemost 2007; 13: 194-200.
16. Gill JC, Endres-Brooks J, Bauer PJ, Marks WJ Jr, Montgomery RR. The effect of ABO blood group on the diagnosis of von Willebrand disease. Blood 1987; 69: 1691-5.
17. Bowen DJ, Standen GR, Mazurier C et al. Type 2N von Willebrand disease: rapid genetic diagnosis of G2811A (R854Q), C2696T (R816W), T2701A (H817Q) and G2823T (C858F)-detection of a novel candidate type 2N mutation: C2810T (R854W). Thromb Haemost 1998; 80: 32-6.
18. Eikenboom JC, Reitsma PH, Peerlinck KM, Briët E. Recessive inheritance of von Willebrand's disease type I. Lancet 1993; 341: 982-6.
19. Budde U, Drewke E, Mainusch K, Schneppenheim R. Laboratory diagnosis of congenital von Willebrand disease. Semin Thromb Hemost 2002; 28: 173-90.
20. Schneppenheim R, Budde U, Krey S et al. Results of a screening for von Willebrand disease type 2N in patients with suspected haemophilia A or von Willebrand disease type 1. Thromb Haemost 1996; 76: 598-602.
21. Mazurier C, Goudemand J, Hilbert L, Caron C, Fressinaud E, Meyer D. Type 2N von Willebrand disease: Clinical manifestations, pathophysiology, laboratory diagnosis and molecular biology. Best Pract Res Clin Haematol 2001; 14: 337-47.
22. Asatiani E, Kessler CM. Multiple congenital coagulopathies co-expressed with Von Willebrand's disease: The experience of Hemophilia Region III Treatment Centers over 25years and review of the literature. Haemophilia 2007; 13: 685-96.
23. Zimmerman TS, Ratnoff OD, Littell AS. Detection of carriers of classic hemophilia using an immunologic assay for antihemophilic factor (factor VIII). J Clin Invest 1971; 50: 255-8.
24. Rodgers SE, Lerda NV, Favaloro EJ et al. Identification of von Willebrand disease type 2N (Normandy) in Australia: A cross-laboratory investigation using different methods. Am J Clin Pathol 2002; 118: 269-76.
25. Gill JC, Endres-Brooks J, Bauer PJ, Marks WJ Jr, Montgomery RR. The effect of ABO blood group on the diagnosis of von Willebrand disease. Blood 1987; 69: 1691-5.
26. Schleef M, Strobel E, Dick A, Frank J, Schramm W, Spannagl M. Relationship between ABO and Secretor genotype with plasma levels of factor VIII and von Willebrand factor in thrombosis patients and control individuals. Br J Haematol 2005; 128: 100-7.