PDF herunterladen
Thromb Haemost 1973; 30(02): 255-262
DOI: 10.1055/s-0038-1649072
Original Article
Schattauer GmbH

Detection of Carriers of Haemophilia

Henry Ekert
1   Royal Children’s Hospital Research Foundation, Parkville, Victoria, 3052, Australia
,
Holger Helliger
1   Royal Children’s Hospital Research Foundation, Parkville, Victoria, 3052, Australia
,
Robert H. Muntz
1   Royal Children’s Hospital Research Foundation, Parkville, Victoria, 3052, Australia
› Institutsangaben
Weitere Informationen

Publikationsverlauf

Received for publication 27. Februar 1973

Accepted for publication 20. Mai 1973

Publikationsdatum:
30. Juni 2018 (online)

Auch verfügbar auf
    Lizenzen und Reprints

Summary

Protein with antihaemophilic factor antigenicity (AHF-like protein) and the biological activity of antihaemophilic factor (AHF activity) was measured in 13 obligatory and 21 suspected carriers of haemophilia and 20 normals. The mean level of AHF-like protein was significantly higher in the obligatory and suspected carriers but there was a wide range of values. The ratio of AHF activity to AHF-like protein was significantly lowered. In 31 of 34 cases a diagnosis of the carrier status could be made by the use of this ratio. In 18 the AHF activity was within the normal range and in 15 of these the ratio could be used to diagnose the carrier status. The ratio was not diagnostic in 3 obligatory carriers. Estimation of the ratio of AHF activity to AHF-like protein is a valuable adjunct to genetic counselling in haemophilia.

 

  • References

  • 1 Bennett E, and Huehns E. R. 1970; Immunological differentiation of 3 types of haemophilia and identification of some female carriers. Lancet 11: 956.
    PubMedSuche in Google Scholar
  • 2 Biggs R, Austen D. E. G, Denson K. W. E, Rizza C. R, and Borrett R. 1972; Mode of action of antibodies which destroy factor VIII. i. Antibodies which have second-order concentration graphs. British Journal of Haematology 23: 125.
    CrossrefPubMedSuche in Google Scholar
  • 3 Ekert H, Helliger H, and Mijntz R. H. 1972; AHF-related protein and precipitation reactions. British Medical Journal 4: 789.
    PubMedSuche in Google Scholar
  • 4 Hardisty R. M, and Ingram G. I. C. 1965. Bleeding disorders. Investigation and Management. Blackwell Scientific Publications; Oxford:
    Suche in Google Scholar
  • 5 Hoyer L. W. 1972; Immunologic studies of antihaemophilic factor (AHF, factor VIII). III. Comparative binding properties of human and rabbit anti-AHF. Blood 39: 481.
    PubMedSuche in Google Scholar
  • 6 Newman J, Johnson A. J, Karpatkin M. H, and Puszkin S. 1972; Methods for the production of clinically effective intermediate and high-purity factor VIII concentrates. British Journal of Haematology 21: 1.
    PubMedSuche in Google Scholar
  • 7 Rapaport S. I, Patch M. J, and Moore F. J. 1960; Antihaemophilic globulin levels in carriers of haemophilia. Journal of Clinical Investigation 39: 1619.
    CrossrefPubMedSuche in Google Scholar
  • 8 Zimmerman T. S, Ratnoff O. D, and Littell S. A. 1971; Detection of carriers of classic haemophilia using immunologic assay for antihaemophilic factor (VIII). Journal of Clinical Investigation 50: 255.
    CrossrefPubMedSuche in Google Scholar
  • 9 Zimmerman T. S, Ratnoff O. D, and Powell A. E. 1971; Immunologic differentiation of classical haemophilia (Factor VIII deficiency) and von Willebrand’s disease. Journal of Clinical Investigation 50: 244.
    CrossrefPubMedSuche in Google Scholar