von Willebrand Disease Masquerading as Haemophilia A

• References

• 1 Nilsson IM. Von Willebrand’s disease from 1926-1983. Scand J Haematol 1984; 40: 21-43
• 2 Zimmerman TS, Ruggeri ZM. Coagulation and Bleeding Disorders: The Role of Factor VIII and von Willebrand Factor. Vol 9. M. Dekker; New York: 1989
• 3 Seghatchian MJ, Savidge GF. Factor VUI-von Willebrand Factor. Biochemical, Methodological and Functional Aspects. Vol 1. CRC Press; Boca Raton, CA: 1989
• 4 Gitschier J. Genetic basic of hemophilia A. Thromb Haemostas 1991; 66: 37-39
• 5 Ruggeri ZM, Zimmerman TS. Classification of von Willebrand disease. J Clin Lab Anal 1987; 1: 353-362
• 6 Sadler JE, Davie EW, Hemophilia A, hemophilia B. von Willebrand’s disease. In: The molecular basis of blood diseases. W. Saunders; Philadelphia, PA: 1987. pp 575-630
• 7 Foster PA, Fulcher CA, Marti T, Titani K, Zimmerman TS. A major factor VIII binding domain resides within the amino-terminal 272 amino acid residues of von Willebrand factor. J Biol Chem 1987; 262: 8443-8446
• 8 Takahashi Y, Kalafatis M, Girma JP, Sewerin K, Andersson LO, Meyer D. Localization of a factor VIII binding domain on a 34 kilodalton fragment of the N-terminal portion of von Willebrand factor. Blood 1987; 70: 1679-1682
• 9 Nishino M, Girma JP, Rotschild C, Fressinaud F, Meyer D. A new variant of von Willebrand disease with defective binding to factor VIII. Thromb Haemostas 1989; 62: 472 (1477 Abstr)
• 10 Mazurier C, Jorieux S, Dieval J. Evidence for an abnormal FVIII/von Willebrand factor interaction in a patient presenting as a lifelong bleeding diathesis associated with FVIII deficiency. Thromb Haem-ostas 1989; 62: 472 (1479 Abstr)
• 11 Mazurier C, Dieval J, Jorieux S, Delobel J, Goudemand M. A new von Willebrand factor (vWF) defect in a patient with factor VIII deficiency but with normal levels and multimeric patterns of both plasma and platelet vWF. Characterization of abnormal vWF/FVIII interaction. Blood 1990; 75: 20-26
• 12 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: 1591-1599
• 13 Gaucher C, Jorieux S, Mercier B, Oufkir D, Mazurier C. The “Normandy” variant of von Willebrand’s disease: characterization of a point mutation in the von Willebrand factor gene. Blood 1991; 77: 1937-1941
• 14 Pietu G, Ribba AS, Meulien P, Meyer D. Localization within the 106 N-terminal amino acids of von Willebrand factor (vWF) of the epitope corresponding to a monoclonal antibody which inhibits vWF binding to factor VIII. Biochem Biophys Res Commun 1989; 163: 618-626
• 15 Mazurier C, Gaucher C, Jorieux S, Parquet-Gernez A, Goudemand M. Evidence for a von Willebrand factor defect in factor VIII binding in three members of a family previously misdiagnosed mild haemophilia A and haemophilia A carriers: consequences for therapy and genetic counselling. Br J Haematol 1990; 76: 372-379
• 16 Gaucher C, Mercier B, Jorieux S, Oufkir D, Mazurier C. Identification of two point mutations in the von Willebrand factor gene of three families with the “Normandy” variant of von Willebrand disease. Br J Haematol 1991; 78: 506-514
• 17 Lopez-Fernandez Mf, Blanco-Lopez MJ, Castineira MP, Batlle J. Further evidence for recessive inheritance of von Willebrand disease with abnormal binding of von Willebrand factor to factor VIII. Am J Hematol, accepted.
• 18 Mercier B, Gaucher C, Mazurier C. Characterization of 98 alleles in 105 unrelated individuals in the F8vWF gene. Nucl Acids Res 1991; 17: 4800
• 19 Mancuso DJ, Tuley EA, Westfield LA, Worrall NK, Shelton-Inloes BB, Sorace JM, Alevy YG, Sadler JE. Structure of the gene for human von Willebrand factor. J Biol Chem 1989; 264: 19514-19527
• 20 Cacheris PM, Nichols WC, Ginsburg D. Molecular characterization of a unique von Willebrand disease variant. A novel mutation affecting von Willebrand factor/factor VIII interaction. J Biol Chem 1991; 266: 13499-13502
• 21 Kroner PA, Friedman KD, Fahs SA, Scott JP, Montgomery RR. Abnormal binding of factor VIII is linked with the substitution of Glutamine for Arginine 91 in von Willebrand factor in a variant form of von Willebrand disease. J Biol Chem 1991; 266: 19146-19149
• 22 Peerlinck K, Eikenboom JC, Ploos Van Amstel HK, Sangtawesin W, Arnout J, Reitsma PH, Vermylen J, Briet E. A patient with von Willebrand’s disease characterized by a compound heterozygosity for a substitution of Arg 854 by Gin in the putative factor VUI-binding domain of von Willebrand factor (vWF) on one allele and very low levels of mRNA from the second vWF allele. Submitted
• 23 Tuley EA, Gaucher C, Jorieux S, Worrall NK, Sadler E, Mazurier C. Expression of von Willebrand factor “Normandy”: an autosomal mutation that mimics hemophilia A. Proc Natl Acad Sci USA 1991; 88: 6377-6381
• 24 Jorieux S, Tuley E, Gaucher C, Mazurier C, Sadler JE. The mutation Arg 53 —» Trp causes von Willebrand disease Normandy by abolishing binding to factor VIII. Study with recombinant von Willebrand factor. Blood. in press
• 25 Tuddenham EGD, Lane RS, Rotblat F, Johnson AJ, Snape TJ, Middleton S, Kernoff PBA. Response to infusions of polyelectrolyte fractionated human factor VIII concentrate in human haemophilia A and von Willebrand’s disease. Br J Haematol 1982; 52: 259-267
• 26 Mannucci PM, Ruggeri ZM, Pared FI, Capitanio A. l-Deamino-8-D-arginine vasopressin: a new pharmacological approach to the management of haemophilia and von Willebrand’s disease. Lancet 1977; i: 869-872
• 27 Goudemand J, Mazurier C, Marey A, Caron C, Coupez B, Mizon P, Goudemand M. Clinical and biological evaluation in von Willebrand’s disease of a von Willebrand factor concentrate with low factor VIII activity. Br J Haematol. accepted
• 28 Leyte A. Human blood coagulation factor VIII and its interaction with von Willebrand factor. Thesis; Amsterdam: February 1991
• 29 Fay PJ, Smudzin TM. Topography of the human factor VIII - von Willebrand factor complex. J Biol Chem 1990; 265: 6197-6202
• 30 Marti T, Rosselet SJ, Titani K, Walsh KA. Identification of disulfide-bridged substructures within human von Willebrand factor. Biochemistry 1987; 26: 8099-8109