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Thromb Haemost 1960; 4(03): 369-375
DOI: 10.1055/s-0038-1654520
Originalarbeiten — Original Articles — Travaux Originaux
Schattauer GmbH

Spontaneous Haemophilia in a Female

E. H Braun   *
,
David B. Stollar   **
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Publication History

Publication Date:
17 June 2018 (online)

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Summary

A case of haemophilia in a young white girl is described. There was a history of bleeding from birth. The thromboplastin generation test was grossly abnormal and A. H. G. levels were below 1%. Bleeding time and capillary morphology was within normal limits. Dental extraction after transfusion caused almost uncontrollable haemorrhage.

A complete family history was obtained for four generations. There was no case of a “bleeder” amongst these.

The girl’s apparent sex was confirmed by sex chromatin studies.

* M.D. (Sask.), M. R. C. P. (Edin.), M. R. C. S. (Eng.), D. T. M. & H. (Liverpool). Assistant Pathologist, Pathology Dept., University Hospital, Saskatoon, Sask. Assistant Professor of Pathology, University of Saskatchewan, Saskatoon, Sask.


** B.A. (Sask.), M.D. (Sask.), University Hospital, Saskatoon.


 

  • Literatur

  • (1) Addis T. The Pathogenesis of Hereditary Haemophilia. J. Path. Bact. 15: 427 1911;
    CrossrefPubMedGoogle Scholar
  • (2) Alexander B, Goldstein R. Dual Haemostatic Defect in Pseudohaemophilia. J. clin. Invest. 32: 551 1953;
    PubMedGoogle Scholar
  • (3) Barr M. L. Sex Chromatin and Phenotype in Man. Science 130: 679 1959;
    CrossrefPubMedGoogle Scholar
  • (4) Bulloch W, Fildes P. Haemophilia. Francis Galton Lab. for National Eugenics 1: 169 1912;
    PubMedGoogle Scholar
  • (5) Biggs R, Douglas A. S. The Thromboplastin Generation Test. J. clin. Path. 6: 23 1953;
    CrossrefPubMedGoogle 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 3: 305 1956;
    PubMedGoogle Scholar
  • (7) Constandoulakis M. Familial Haemophilia and Factor VII Deficiency. J. clin. Path. 11: 412 1958;
    CrossrefPubMedGoogle Scholar
  • (8) Deutsch E. Verschiedene Formen der Hämophilie. Thromb. Diath. haem. 1: 93 1957;
    PubMedGoogle Scholar
  • (9) Fanll P, Margolis J. Alpha-Prothromboplastin Deficiencies (Haemophilia) of differing degrees in a Mother and Son. Brit. med. J. i: 640 1955;
    PubMedGoogle Scholar
  • (10) Hartman J. R, Diamond L. K. Haemophilia and related haemorrhagic disorders. Practitioner 178: 179 1957;
    PubMedGoogle Scholar
  • (11) Isräels M. C. G, Lempert H, Gilbertson P. Haemophilia in the Female. Lancet i: 1375 1951;
    PubMedGoogle Scholar
  • (12) Editorial: The Human Chromosomal Abnormalities. Lancet ii: 448 1959;
    PubMedGoogle Scholar
  • (13) Macfarlane R. G. Haemophilia, Christmas Disease and Matters of Terminology. Blood 4: 258 1954;
    PubMedGoogle Scholar
  • (14) Macfarlane R. G, Biggs R. Human Blood Coagulation and its Disorders. 2nd Ed.. Oxford: 1957
    Google Scholar
  • (15) Merskey C. The occurrence of haemophilia in the human female. Quart. J. Med. 20: 299 1951;
    PubMedGoogle Scholar
  • (16) Miale J. B. Laboratory Medicine — Haematology. 1st Ed.. C. V. Mosby Co.; St. Louis: 1958
    Google Scholar
  • (17) Nilsson I. M, Bergman S, Reitalu J, Waldenstrom J. Haemophilia “A“ in a Girl with Male Sex-Chromatin Pattern. Lancet ii: 264 1959;
    PubMedGoogle Scholar
  • (18) Pitney W. R. The Assay of AHG in Plasma. Brit. J. Haemat. 2: 250 1956;
    CrossrefPubMedGoogle Scholar
  • (19) Pola V, Svojitka J. Klassische Hämophilie bei Frauen. Folia haemat. (Lpz.) 75: 43 1957;
    PubMedGoogle Scholar
  • (20) Quick A. J. Studies on the Enigma of the Hemostatic Dysfunction of Hemophilia. Amer. J. Med. Sci. 214: 272 1947;
    CrossrefPubMedGoogle Scholar
  • (21) Quick A. J, Hussey C. V. Haemophilic Condition in a Girl. Amer. J. Dis. Child. 85: 698 1953;
    PubMedGoogle Scholar
  • (22) Quick A. J, Hussey C. V. Haemophilia-like States in Girls. Lancet i: 1294 1958;
    PubMedGoogle Scholar
  • (23) Schulman I, Smith C. H, Erlandson M, Fort E. Vascular Haemophilia: A familial haemorrhagic disease in male and females characterized by combined A. H. G. deficiency. Amer. J. Dis. Child. 90: 526 1955;
    PubMedGoogle Scholar
  • (24) Sussman L. N, Cohen I. B, Gittler R. Clinical Application of Simplified Serum Prothrombin Consumption Test. J. Amer. med. Ass. 156: 702 1954;
    CrossrefPubMedGoogle Scholar
  • (25) Taylor K, Biggs R. A mildly affected Female Haemophiliac. Brit. med. J. i: 1494 1957;
    PubMedGoogle Scholar
  • (26) Valberg L. S, Brown G. M. Haemorrhagic Capillary Disorder associated with A. H. G. Deficiency. Medicine 37: 181 1958;
    CrossrefPubMedGoogle Scholar
  • (27) Verstraete M, Vandenbroucke J. Deficient Thromboplastin Formation in Man. Amer. J. Med. 22: 624 1957;
    CrossrefPubMedGoogle Scholar