Haemophilia A with Apparently Autosomal Dominant Inheritance

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;
• 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 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;
• 4 Braun E. H, Stollar D. B. Spontaneous haemophilia in a female. Thrombos. Diathes. haemorrh. (Stuttg) 04: 369 1960;
• 5 Chapelle de la A, Ikkala E, Nevanlinna H. R. Haemophilia in a girl. Lancet II: 578 1961;
• 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;
• 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 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;
• 9 Haanen CAM. Hemofilie bij een vrouw. Folia med. neerl. 01: 20 1958; and Personal Communication.
• 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;
• 11 Kerr G. B. Inheritance of factor VIII. Proc. int. Comm. Haemost. Thrombos. Amsterdam. 1964. Thrombos. Diathes. haemorrh. (Stuttg). 13 suppl.
• 12 McGovern J. J, Steinberg A. G. Antihemophilic factor deficiency in the female. J. Lab. clin. Med. 52: 386 1958;
• 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;
• 14 Nilsson I. M, Bergman S, Beitalu J, Waldenstrom J. Hemophilia A in a “girl” with male sex-chromatin pattern. Lancet II: 264 1959;
• 15 Nilsson I. M, Blombäck M, Blombäck B. Von Willebrand’s disease in Sweden. Its pathogenesis and treatmnet. Acta med. scand. 164: 263 1959;
• 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;
• 17 Quick A. J, Hussey C. V. Haemophilia-like states in girls. Lamcet I: 1294 1958;
• 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.
• 19 Whissel D. Y, Hoag M. S, Aggeler P. M, Kropatkin M, Garner E. Hemophilia in a woman. Amer. J. Med. 38: 119 1965;