Haemophilia in a Female

Summary

A case of haemophilia in a female is described together with the response of the patient’s level of antihaemophilic factor in the plasma following transfusion of fresh frozen plasma, fibrinogen and cryoprecipitate.

^* Present Address: Department of Pathology, McMaster University and Henderson General Hospital, Concession Street, Hamilton 53, Ontario.

• References

• 1 Bennett E, Dormandy K. Pool’s cryoprecipitation and exhausted plasma in the treatment of von Willebrand’s disease and factor XI deficiency. Lancet II: 731 1966;
• 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;
• 3 Biggs R, MacFarlane R. G. Treatment of haemophilia and other coagulation disorders. Blackwell, London: 1966
• 4 Brecher G, Cronkite E. P. Morphology and enumeration of human blood platelets. J. appl. Physiol 03: 365 1950;
• 5 Caen J. Les conductrices de l’hemophilie diagnostic et implications psychologiques l’hemophilie feminine. Extract de Colloques de l’institut national de la santé et de la recherche médicale. No. 5, 01. 144 1968
• 6 de la Chapelle A, Ikkala E, Nevanlinna H. R. Haemophilia A in a girl. A probable exception from sex-linked recessive inheritance. Lancet II: 578 1961;
• 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;
• 8 Dacie J. V, Lewis S. M. Practical Haematology. 3rd. ed. Churchill, London: 1963
• 9 Davidson W. M, Smith D. H. A morphological sex difference in the polymorphonuclear neutrophil leucocytes. Brit. med. J II: 6 1954;
• 10 Gilchrist G. S, Hammond D, Melnyk J. Haemophilia A in a phenotypically normal female with xx/xo mosaicism. New Engl. J. med 273: 1402 1965;
• 11 Hellem A. J. The adhesiveness of human blood platelets in vitro. Scand. J. clin. Lab. Invest. 12. Sppl. No. 51 1960
• 12 Hensen A, Mattern M. J, Loeliger E. A. Haemophilia A with apparently autosomal dominant inheritance. Evidence for a second autosomal locus involved in factor VIII production. Thrombos. Diathes. haemorrh. (Stuttg) 14: 341 1965;
• 13 Hirsh J, McBride J. A. Increased platelet adhesiveness in recurrent venous thrombosis and pulmonary embolism. Brit. Med. J II: 797 1965;
• 14 Ikkala E. Haemophilia: a study of its laboratory, clinical, genetic and social aspects based on known haemophiliacs in Finland. Scandinav. J. clin. Lab. Invest. 12, Suppl 46: 1 1960;
• 15 McGovern J. J, Steinberg A. G. Anti-hemophilic factor deficiency in the female. J. Lab. clin. Med 51: 386 1958;
• 16 Mellman W. J, Wolman I. J, Wurzel H. A, Moorhead P. S, Qualls D. H. A chromosomal female with hemophilia A. Blood 17: 719 1961;
• 17 Merskey C. The occurrence of haemophilia in the human female. Quart. J. Med 20: 299 1951;
• 18 Meyer D, Larrieu M. J, Maroteau P, Caen J. P. Biological findings in von Willebrand’s pedigrees: implications for inheritance. J. clin. Path 20: 190 1967;
• 19 Moorhead P. S, Nowell P. C, Mellman W. J, Battips D. M, Hungerford D. A. Chromosome preparations of leukocytes cultured from human peripheral blood. Exp. Cell Res 20: 613 1960;
• 20 Oeri J, Matter M, Isenschmid H, Hauser F, Koller F. Angeborener Mangel an Faktor V (Parahaemophilie) verbunden mit echter Haemophilie A bei zwei Brüdern (congenital factor V deficiency (parahaemophilie) with true haemophilia in two brothers). Bibl. paediat. (Basel) 58: 575 1954;
• 21 Pitney W. R. The assay of antihaemophilic globulin (AHG) in plasma. Brit. J. Haemat 02: 250 1956;
• 22 Pola V. Klassische Haemophilie, ihre Manifestierung beim weiblichen Geschlecht. Blut 11: 294 1965;
• 23 Ross A. The demonstration of sex chromatin in buccal smears. J. Med. Lab. Tech 17: 178 1960;
• 24 Rozman C, Castillo R, Ribas-Mundo M, Suros J. Christmas disease in a girl with female karyotype. Acta Haemat. (Basel) 37: 217 1967;
• 25 Salzman E. W. Measurement of platelet adhesiveness: a simple in vitro technique demonstrating an abnormality in von Willebrand’s disease. J. Lab. clin. Med 62: 724 1963;
• 26 Ulutin O. N, Muftuoglu A. U, Palamar S. Haemophilia A in a girl with female sex chromatin pattern. Thrombos. Diathes. haemorrh. (Stuttg) 14: 65 1965;
• 27 Whissell D. Y, Hoag M. S, Aggeler P. M, Kropatkin M, Garner E. Haemophilia in a woman. Amer. J. Med 38: 119 1965;