Skip to main content
PMC home page
Journal of Clinical Pathology logoLink to Journal of Clinical Pathology
. 1975 Apr;28(4):309–316. doi: 10.1136/jcp.28.4.309

Detection of heterozygotes in both parents of homozygous patients with Von Willebrand's disease.

Y Sultan, J Simeon, J P Caen
PMCID: PMC475697  PMID: 805164

Abstract

Three patients with severe Von Willebrand's disease are shown to be homozygotes. They were born from unaffected parents. New techniques using a factor-VIII-related antigen assay by the Laurell method and a ristocetin-induced platelet aggregation assay demonstrated abnormalities in these two tests in both parents of the probands. Factor-VIII-related of heterogotes could not be differentiated from normal factor-VIII-related antigen by the immunodiffusion technique, crossed immunoelectrophoresis, and filtration on a sepharose 4b column.

Full text

PDF
309

Images in this article

313Image
on p.313
313Image
on p.313
314Image
on p.314
314Image
on p.314

Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. BARROW E. M., GRAHAM J. B. VON WILLEBRAND'S DISEASE. Prog Hematol. 1964;4:203–221. [PubMed] [Google Scholar]
  2. BARROW E. M., HEINDEL C. C., ROBERTS H. R., GRAHAM J. B. HETEROZYGOSITY AND HOMOZYGOSITY IN VON WILLEBRAND'S DISEASE. Proc Soc Exp Biol Med. 1965 Mar;118:684–687. doi: 10.3181/00379727-118-29938. [DOI] [PubMed] [Google Scholar]
  3. Bowie E. J., Owen C. A., Jr, Thompson J. H., Didisheim P. Platelet adhesiveness in von Willebrand's disease. Am J Clin Pathol. 1969 Jul;52(1):69–77. doi: 10.1093/ajcp/52.1.69. [DOI] [PubMed] [Google Scholar]
  4. Cornu P. Maladie de Willebrand. Pathol Biol. 1965 May;13(9):546–553. [PubMed] [Google Scholar]
  5. Cronberg S., Caen J. P. Platelet aggregation in washed suspensions. Scand J Haematol. 1971;8(3):161–168. doi: 10.1111/j.1600-0609.1971.tb01967.x. [DOI] [PubMed] [Google Scholar]
  6. LAURELL C. B. ANTIGEN-ANTIBODY CROSSED ELECTROPHORESIS. Anal Biochem. 1965 Feb;10:358–361. doi: 10.1016/0003-2697(65)90278-2. [DOI] [PubMed] [Google Scholar]
  7. Laurell C. B. Quantitative estimation of proteins by electrophoresis in agarose gel containing antibodies. Anal Biochem. 1966 Apr;15(1):45–52. doi: 10.1016/0003-2697(66)90246-6. [DOI] [PubMed] [Google Scholar]
  8. Marchesi S. L., Shulman N. R., Gralnick H. R. Studies on the purification and characterization of human factor 8. J Clin Invest. 1972 Aug;51(8):2151–2161. doi: 10.1172/JCI107022. [DOI] [PMC free article] [PubMed] [Google Scholar]
  9. Meyer D., Larrieu M. J., Maroteaux P., Caen J. P. Biological findings in Von Willebrand's pedigrees: implications for inheritance. J Clin Pathol. 1967 Mar;20(2):190–194. doi: 10.1136/jcp.20.2.190. [DOI] [PMC free article] [PubMed] [Google Scholar]
  10. NILSSON I. M., BLOMBACK M., VON FRANCKEN I. On an inherited autosomal hemorrhagic diathesis with antihemophilic globulin (AHG) deficiency and prolonged bleeding time. Acta Med Scand. 1957 Oct 30;159(1):35–57. doi: 10.1111/j.0954-6820.1957.tb00532.x. [DOI] [PubMed] [Google Scholar]
  11. RACCUGLIA G., NEEL J. V. Congenital vascular defect associated with platelet abnormality and antihemophilic factor deficiency. Blood. 1960 Jun;15:807–829. [PubMed] [Google Scholar]
  12. SOULIER J. P., LARRIEU M. J. Measurement of thromboplastic factors and profactors in plasma. I. Deficits in thromboplastin; study of reagents; measurements of antihemophilic and of platelet activities. J Lab Clin Med. 1953 Jun;41(6):849–864. [PubMed] [Google Scholar]
  13. Weiss H. J., Hoyer L. W., Rickles F. R., Varma A., Rogers J. Quantitative assay of a plasma factor deficient in von Willebrand's disease that is necessary for platelet aggregation. Relationship to factor VIII procoagulant activity and antigen content. J Clin Invest. 1973 Nov;52(11):2708–2716. doi: 10.1172/JCI107465. [DOI] [PMC free article] [PubMed] [Google Scholar]

Articles from Journal of Clinical Pathology are provided here courtesy of BMJ Publishing Group

RESOURCES