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Thromb Haemost 1980; 43(01): 002-005
DOI: 10.1055/s-0038-1649998
Original Article
Schattauer GmbH Stuttgart

Variant von Willebrand’s Disease

A Study Emphasizing Crossed-Immunoelectrophoresis
David Green
The Atherosclerosis Program, Rehabilitation Institute of Chicago, and the Hematology Section, Department of Medicine, Northwestern University Medical School, U.S.A.
,
K J Philip
The Atherosclerosis Program, Rehabilitation Institute of Chicago, and the Hematology Section, Department of Medicine, Northwestern University Medical School, U.S.A.
› Author Affiliations
Further Information

Publication History

Received 11 June 1979

Publication Date:
13 July 2018 (online)

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Summary

30 members of an Illinois kindred were studied with a battery of haemostatic tests including the template bleeding time, platelet retention by glass beads (PRGB), measurement of activities related to factor VIII, and crossed-immunoelectrophoresis (CIEP). 9 family members had a history of excessive bleeding, and all 9 had prolonged bleeding times and increased migration of their factor VIII-related antigen (VIIIR:Ag) on CIEP. Of the other tests performed, the VIII: Ristocetin Cofactor and the PRGB showed the best correlation with the bleeding time. 3 subjects who were not bleeders, but who came from a branch of the family where there were several affected members, also had an abnormal VIIIR: Ag. The pattern of inheritance of the altered VIIIR: Ag in this family was one of autosomal dominance with full penetrance. The CIEP is a valuable screening test for the detection of variant von Willebrand’s disease and the recognition of silent heterozygotes.

Keywords

Von Willebrand’s disease - Factor VIII variants - Genetics of vWD
 

  • References

  • 1 Green D, Chediak JR. von Willebrand’s Disease: Current concepts. Am J Med 1977; 62: 315-318
    CrossrefPubMedSearch in Google Scholar
  • 2 Ratnoff OD, Bennett B. Clues to the pathogenesis of bleeding in von Willebrand’s disease. N Engl J Med 1973; 289: 1182-1183
    CrossrefPubMedSearch in Google Scholar
  • 3 Gralnick HR, Coller BS, Sultan Y. Studies of the human factor VIII/von Willebrand factor protein. J Clin Invest 1975; 56: 814-827
    CrossrefPubMedSearch in Google Scholar
  • 4 Gralnick HR, Coller BS, Sultan Y. Carbohydrate Deficiency of the factor VIII/von Willebrand factor protein in von Willebrand’s disease variants. Science 1976; 192: 56-59
    CrossrefPubMedSearch in Google Scholar
  • 5 Gralnick HR, Sultan Y, Coller BS. von Willebrand’s disease: combined qualitative and quantitative abnormalities. N Engl J Med 1977; 296: 1024-1039
    CrossrefPubMedSearch in Google Scholar
  • 6 Kernoff PB A, Gruson R, Rizza CR. A variant of Factor VIII-related antigen. Br J Haematol 1974; 26: 435-440
    CrossrefPubMedSearch in Google Scholar
  • 7 Peake IR, Bloom AL, Giddings JC. Inherited variant of factor VIII-related protein in von Willebrand’s disease. N Engl J Med 1974; 291: 113-116
    CrossrefPubMedSearch in Google Scholar
  • 8 Sultan Y, Simeon J, Caen JP. Electrophoretic heterogeneity of normal Factor VIII/von Willebrand protein, and abnormal electrophoretic mobility in patients with von Willebrand’s disease. J Lab Clin Med 1976; 87: 185-197
    PubMedSearch in Google Scholar
  • 9 Mielke CH, Kaneshiro MM, Maher IA, Weiner JM, Rapaport SI. The standardized Ivy bleeding time and its prolongation by aspirin. Blood 1969; 34: 204-215
    PubMedSearch in Google Scholar
  • 10 Rossi EC, Green D. A study of platelet retention by glass-bead columns. Br J Haematol 1972; 23: 47-57
    CrossrefPubMedSearch in Google Scholar
  • 11 Weiss HJ, Hoyer LW, Rickles FR, Varma A, Rogers J. Quantitative assay of a plasma factor deficient in von Willebrand’s disease that is necessary for platelet aggregation. J Clin Invest 1973; 52: 2708-2716
    CrossrefPubMedSearch in Google Scholar
  • 12 Green D, Potter EV. Platelet-bound ristocetin aggregation factor in normal subjects and patients with von Willebrand’s disease. J Lab Clin Med 1976; 87: 976-986
    PubMedSearch in Google Scholar
  • 13 Laurell CB. Antigen antibody crossed electrophoresis. Ann Biochem 1965; 10: 358-361
    CrossrefPubMedSearch in Google Scholar
  • 14 Idem Quantitative estimation of proteins by electrophoresis in agarose gel containing antibodies. Ann Biochem 1966; 15: 45-52
    CrossrefPubMedSearch in Google Scholar
  • 15 Zimmerman TS, Hoyer LW, Dickson L, Edgington TS. Determination of the von Willebrand’s disease antigen (factor VIII-related antigen) in plasma by quantitative immunoelectrophoresis. J Lab Clin Med 1975; 86: 152-159
    PubMedSearch in Google Scholar
  • 16 Ingram GI C. Classification of von Willebrand’s disease. Lancet 1978; ii: 1364-1365
    PubMedSearch in Google Scholar
  • 17 Barrow EM, Graham JB. von Willebrand’s disease. Progress in Haematology. 1964. 4: 203 edited by Moore CV, Brown EB. Grune and Stratton, New York:
    Search in Google Scholar
  • 18 Fass DN, Bowie EJ W, Owen jnr CA, Zollman PE. Inheritance of porcine von Willebrand’s disease: a study of a kindred of over 700 pigs. Blood 1979; 53: 712-719
    PubMedSearch in Google Scholar