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Blut

, Volume 33, Issue 2, pp 97–102 | Cite as

An immunological investigation of factor VIII associated antigen in combined factor v and factor VIII deficiency

  • Antonio Girolami
  • Nicoletta Borsato
  • Giovanni Patrassi
  • Antonio Sticchi
Originalarbeiten

Summary

The behavior of factor VIII associated antigen of three patients with combined factor V and factor VIII deficiency has been evaluated in several immunological systems. Factor VIII associated antigen resulted to be normal or higher than normal in all three patients in the radial immunodiffusion and in the electroimmunoassay systems. In the bidimensional electrophoresis system only one factor VIII precipitate was evident and such factor VIII precipitate showed the same electrophoretic mobility as normal factor VIII antigen.

These findings firmly establish the fact that the factor VIII defect in congenital combined factor V and factor VIII deficiency is of the hemophilia type.

Key words

Factor VIII defect congenital combined factor V and factor VIII deficiency hemophilia 

Zusammenfassung

Das Verhalten Faktor VIII-assoziierten Antigens von drei Patienten mit kombiniertem Faktor V- und Faktor VIII-Mangel wurde in verschiedenen immunologischen Tests untersucht. Faktor VIII-assoziiertes Antigen erwies sich in der radialen Immundiffusion und im Elektroimmunoassay bei allen drei Patienten -als normal oder erhöht. In der zweidimensionalen Elektrophorese ergab sich nur ein Faktor VIII-Präzipitat; es zeigte dieselbe elektrophoretische Mobilität wie normales Faktor VIII-Antigen.

Diese Ergebnisse sichern die Annahme, daß der Faktor VIII-Defekt bei kongenitalem kombiniertem Faktor V- und Faktor VIII-Mangel vom Hämophilie-Typ ist.

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References

  1. 1.
    Beck E.A., Carache P. & Jackson D.: A new inherited coagulation disorder caused by an abnormal fibrinogen (Fibrinogen Baltimore).Nature 208, 143 (1965).Google Scholar
  2. 2.
    Bennett B. & Ratnoff O.D.: Detection of the carrier state for classic hemophilia.New Eng. J. Med. 288, 342 (1973).Google Scholar
  3. 3.
    Bouma B.N., von Mourik J.A., Wiegorinck Y., Sixma J.J. & Mochter J.A.: Immunological characterisation of antihaemophilic factor A related antigen in Hemophilia A.Scand. J. Haemat. 11, 184 (1973).Google Scholar
  4. 4.
    Brown P.E., Hougie C. & Roberts M.R.: The genetic heterogeneity of hemophilia B.New Eng. J. Med. 283, 61 (1970).Google Scholar
  5. 5.
    Bussard A.: Description d'une technique combinant simultanéament l'electrophorèse et la precipitation immunologique dans un gel: l'electrosynérèse.Biochem. biophys. Acta 34, 258 (1959).Google Scholar
  6. 6.
    Clarke H.G.M. & Freeman T.: Quantitative immunoelectrophoresis of human serum proteins.Clin. Sci. 35, 403 (1968).Google Scholar
  7. 7.
    Denson K.W., Biggs R. & Mannucci P.M.: An investigation of three patients with Christmas disease due to an abnormal type of factor IX.J. clin. Path. 21, 160 (1968).Google Scholar
  8. 8.
    Denson K.W.: The detection of factor VIII like antigen in hemophilic carriers and in patients with raised levels of biologically active factor VIII.Brit. J. Haemat. 24, 451 (1973).Google Scholar
  9. 9.
    Girolami A., Molaro G., Lazzarin M., Scarpa R. & Brunetti A.: A new congenital hemorrhagic condition due to the presence of an abnormal factor X (factor X Friuli). Study of a large kindred.Brit. J. Haemat. 19, 179 (1970).Google Scholar
  10. 10.
    Girolami A., Sticchi A. & Bareggi G.: Cross-over electrophoresis (electrosyneresis) visualization of the abnormal factor X (factor X Fruili).J. lab. clin. Med. 80, 740 (1972).Google Scholar
  11. 11.
    Girolami A., Bareggi G. & Fioretti D.: Different cross-over electrophoresis mobility of factor X Friuli and coumarininduced abnormal factor X.Haemostasis 1, 229 (1972/73).Google Scholar
  12. 12.
    Girolami A., Bareggi G., Brunetti A. & Sticchi A.: Prothrombin Padua: a new congenital dysprothrombinemia.J. Lab. clin. Med. 84, 654 (1974).Google Scholar
  13. 13.
    Girolami A., Brunetti A. & De Marco L.: Congenital combined factor V and factor VIII deficiency in a male born from a brother-sister incest.Blut 28, 33 (1974).Google Scholar
  14. 14.
    Girolami A., Sticchi A., Barbui T. & Bareggi G.: Factor VIII immunological assay. An evaluation of several methods using whole plasma.Blut 29, 309 (1974).Google Scholar
  15. 15.
    Girolami A. & Bareggi G.: Normal factor VIII antigen level in combined factor V and factor VIII congenital deficiency.Acta Haemat. 52, 362 (1974).Google Scholar
  16. 16.
    Girolami A., Bareggi G. & Borsato N.: Factor X Friuli: an immunological study in plasma and in serum using several methods.Blut 30, 203 (1975).Google Scholar
  17. 17.
    Girolami A., Gastaldi G., Patrassi G.M. & Galletti A.: Congenital combined deficiency of factor V and factor VIII. A report of a further case with some considerations on the hereditary transmission of this disorder.Acta Haemat. 55, 234 (1976).Google Scholar
  18. 18.
    Girolami A., Venturelli R., Virgolini L. & Burul A.: Congenital combined factor VII and factor VIII deficiency. A distinct coagulation disorder due to the “lack” of an autosomal gene controlling both factor VII and factor VIII activation?Acta Haemat. 55, 181 (1976).Google Scholar
  19. 19.
    Girolami A., Violante N., Brunetti A. & Cella G.: Combined deficiency of factor V and factor VIII. Report of another case.Blut (Submitted for publication).Google Scholar
  20. 20.
    Josso F., Monasterio de Sanchez J., Lavergne J.M., Menaché D. & Soulier J.P.: Congenital abnormality of the prothrombin molecule (factor II) in four sillings. Prothrombin Barcelona.Blood 38, 9 (1971).Google Scholar
  21. 21.
    Kernoff P.B.A., Grusan R. & Rizza C.R.: A variant of factor VIII related antigen.Brit. J. Haemat. 26, 435 (1974).Google Scholar
  22. 22.
    Laurell C.B.: Quantitative estimation of proteins by electrophoresis in agarose gel containing antibodies.Anal. Bioch. 15, 45 (1966).Google Scholar
  23. 23.
    Mancini G., Carbonara O. & Heremans J.P.: Immunochemical quantitation of antigens by single radial immunodiffusion.Immunoch. 2, 235 (1965).Google Scholar
  24. 24.
    Menaché D.: Constitutional and familiar abnormal fibrinogen.Thromb. Diath. Haem. Suppl. 13, 173 (1963).Google Scholar
  25. 25.
    Meyer D., Lavergne J.N., Larrieu M.J. & Josso F.: Cross-reacting material in congenital factor VIII deficiencies (hemophilia A and von Willebrand disease).Thromb. Res. 1, 183 (1972).Google Scholar
  26. 26.
    Ouchterlony O.: Immunodiffusion and immunoelectrophoresis in Weir D.N. (Editor): Handbook of experimental Immunology. Pag. 655, Blackwell Sci. Pub., Oxford 1967.Google Scholar
  27. 27.
    Peake I.R., Bloom A.L. & Giddings J.C.: Inherited variants of factor-VIII-related protein in von Willebrand's disease.New Eng. J. Med. 291, 113 (1974).Google Scholar
  28. 28.
    Ratnoff O. D.: The molecule basis of hereditary clotting disorders. In progress in Hemostasis and Thrombosis (Ed. Spaet M. M.) pag. 39, Grune and Stratton, 1972.Google Scholar
  29. 29.
    Scheidegger J.J.: Une micro-methode de l'immuno-electrophorèse.Internat. Arch. Allergy 7, 103 (1955).Google Scholar
  30. 30.
    Shapiro S.S., Martinez J. & Holburn R.H.: Congenital dysprothrombinemia: an inherited structural disorder of human prothrombin.J. clin. Invest. 48, 2251 (1969).Google Scholar
  31. 31.
    Zimmerman Th. S., Ratnoff O.D. & Powell A.E.: Immunological differentiation of classic hemophilia (factor VIII deficiency) and von Willebrand's disease.J. clin. Invest. 50, 244 (1971).Google Scholar

Copyright information

© Springer-Verlag 1976

Authors and Affiliations

  • Antonio Girolami
    • 1
  • Nicoletta Borsato
    • 1
  • Giovanni Patrassi
    • 1
  • Antonio Sticchi
    • 1
  1. 1.Institute of “Semeiotica Medica”University of Padua Medical SchoolPadua

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