Download PDF
Thromb Haemost 1965; 14(03/04): 341-345
DOI: 10.1055/s-0038-1654873
Originalarbeiten — Original Articles — Travaux Originaux
Schattauer GmbH

Haemophilia A with Apparently Autosomal Dominant Inheritance

Evidence for a Second Autosomal Locus Involved in Factor VIII Production
A Hensen
1   Haematology Section of the Department of Internal Medicine (Head: Prof. J. Mulder, M.D.), University Hospital, Leyden, The Netherlands
,
M. J Mattern
1   Haematology Section of the Department of Internal Medicine (Head: Prof. J. Mulder, M.D.), University Hospital, Leyden, The Netherlands
,
E. A Loeliger
1   Haematology Section of the Department of Internal Medicine (Head: Prof. J. Mulder, M.D.), University Hospital, Leyden, The Netherlands
› Author Affiliations
Further Information

Publication History

Publication Date:
27 June 2018 (online)

Also available at
    Permissions and Reprints

Summary

Haemophilia A with autosomal dominant transmission is presented. Von Willebrand’s disease could be excluded on the basis of normal bleeding times and a negative result from transfusion of haemophilic plasma into the propositus. Therefore, the existence of a third gene locus involved in factor VIII production must be seriously considered.

 

  • Literature

  • 1 Barrow E. M, Roberts H. R, Pons K, Graham J. B. Studies on the anti-hemophilic factor (AHF, factor VIII) produced in von Willebrand’s disease. Proc. Soc. exp. Biol. (N.Y) 115: 760 1964;
    CrossrefPubMedGoogle Scholar
  • 2 Biggs R, Matthews J. M. The treatment of haemorrhage in von Willebrand’s disease and the blood level of factor VIII (AHG. Brit. J. Haemat. 09: 203 1963;
    CrossrefPubMedGoogle Scholar
  • 3 Bond T. P, Levin W. G, Gelander D. B, Guest M. M. Mild hemophilia affecting both males and females. New Engl. J. Med. 266: 220 1962;
    CrossrefPubMedGoogle Scholar
  • 4 Braun E. H, Stollar D. B. Spontaneous haemophilia in a female. Thrombos. Diathes. haemorrh. (Stuttg) 04: 369 1960;
    PubMedGoogle Scholar
  • 5 Chapelle de la A, Ikkala E, Nevanlinna H. R. Haemophilia in a girl. Lancet II: 578 1961;
    PubMedGoogle Scholar
  • 6 Choremis K. B, Zervos N, Tsevrenis H, Apostolopoulou E, Mandalaki T. Hémophilie A chez une fille âgée de deux ans. Helv. paediat. Acta 11: 305 1956;
    PubMedGoogle Scholar
  • 7 Cornu P, Larrieu M. J, Caen J, Bernard J. Transfusion studies in von Willebrand’s disease : effect on bleeding time and factor VIII. Brit. J. Haemat. 09: 189 1963;
    CrossrefPubMedGoogle Scholar
  • 8 Creveld van S, Mochtar J. A, Koppe J. G, Cardozo LopezEB. Ziekte van Von Willebrand (II). Invloed van transfusies van plasma en van plasmaproducten. Ned. T. Geneesk. 38: 1696 1963;
    PubMedGoogle Scholar
  • 9 Haanen CAM. Hemofilie bij een vrouw. Folia med. neerl. 01: 20 1958; and Personal Communication.
    PubMedGoogle Scholar
  • 10 Ivy A. G, Nelson D, Bucher G. The standardization of certain factors in the cutaneous “venostasis” bleeding time technique. J. Lab. clin. Med. 26 (8): 1812 1941;
    PubMedGoogle Scholar
  • 11 Kerr G. B. Inheritance of factor VIII. Proc. int. Comm. Haemost. Thrombos. Amsterdam. 1964. Thrombos. Diathes. haemorrh. (Stuttg). 13 suppl.
    Google Scholar
  • 12 McGovern J. J, Steinberg A. G. Antihemophilic factor deficiency in the female. J. Lab. clin. Med. 52: 386 1958;
    PubMedGoogle Scholar
  • 13 Mellman W. J, Walman I. J, Wurzel H. A, Moorhead P. S, Qualls D. H. A chromosomal female with hemophilia A. Blood 17: 719 1961;
    PubMedGoogle Scholar
  • 14 Nilsson I. M, Bergman S, Beitalu J, Waldenstrom J. Hemophilia A in a “girl” with male sex-chromatin pattern. Lancet II: 264 1959;
    PubMedGoogle Scholar
  • 15 Nilsson I. M, Blombäck M, Blombäck B. Von Willebrand’s disease in Sweden. Its pathogenesis and treatmnet. Acta med. scand. 164: 263 1959;
    PubMedGoogle Scholar
  • 16 Pitney W. R, Kirk R. L, Arnold B. J, Stenhouse N. S. Plasma-anti-haemophilic factor (factor VIII) concentrations in normal families. Brit. J. Haemat. 08: 421 1962;
    CrossrefPubMedGoogle Scholar
  • 17 Quick A. J, Hussey C. V. Haemophilia-like states in girls. Lamcet I: 1294 1958;
    PubMedGoogle Scholar
  • 18 Veitkamp J. J, Hemker H. G, Loeliger E. A. Detection of heterozygotes for factor VIII, IX and XII deficiency. Proc. int. Comm. Haemost. Thrombos. Amsterdam (1964). Thrombos. Diathes. haemorrh. (Stnttg). 13 suppl.
    PubMedGoogle Scholar
  • 19 Whissel D. Y, Hoag M. S, Aggeler P. M, Kropatkin M, Garner E. Hemophilia in a woman. Amer. J. Med. 38: 119 1965;
    CrossrefPubMedGoogle Scholar