Thrombosis and Haemostasis, Table of Contents Thromb Haemost 1962; 07(03): 552-557DOI: 10.1055/s-0038-1655404 Originalarbeiten — Original Articles — Travaux Originaux Schattauer GmbH Haemophilia B in a Girl[*] Authors Author Affiliations Jan-Erik Niléhn 1 Department of Medicine, University of Lund, Allmänna Sjukhuset, Malmö, Sweden Inga Marie Nilsson 1 Department of Medicine, University of Lund, Allmänna Sjukhuset, Malmö, Sweden Recommend Article Abstract PDF Download(opens in new window) Buy Article(opens in new window) Summary A 6 year old girl with symptoms of severe haemophilia and a haemophilia B factor B content of 2%—3% of normal is described. Investigation of the family revealed that the mother and the sister of the girl were carriers of the haemophilia B gene, while the father was normal. Chromosome studies showed a pattern of 2 X chromosomes. PDF (989 kb) References References 1 Braun E. H, Stollar D. B. Spontaneous Haemophilia in a Female. Thromb. Diath. haem 1960; 4: 369 2 de la Chapelle A, Ikkala E, Nevanlinna H. R. Haemophilia A in a girl. Lancet 1961; II: 578 3 Choremis K. B, Zervos N, Tserevnis H, Apostolopoulou E, Mandalaki T. Hémophilie A chez une fille agée de deux ans. Acta helv. ped 1956; 3: 305 4 Cook I. A, Douglas A. S. Demonstrable deficiency of Christmas factor in two sisters. Brit. med, J 1960; 1: 479 5 Douglas A. S, Cook I. A. Deficiency of antihaemophilic globulin in heterozygous haemophilic females. Lancet 1957; II: 616 6 Fantl P, Margolis J. Alpha-prothromboplastin deficiencies (haemophilia) of differing degrees in a mother and son. Brit. Med. J 1955; I: 640 7 Hardistry R. M. Christmas disease in a woman. Brit. Med. J 1957; I: 1039 8 Israëls M. C. G, Lempert H, Gilbertson E. Haemophilia in the female. Lancet I: 1375 1951; 9 Kos enow W. Haematological Sex Determination. Triangle 1956; 2: 321 10 Mc Govern J. J, Steinberg A. G. Antihemophilic Factor Deficiency in the Female. J. Lab. Clin. Med 1958; 51: 386 11 Mellman W. J, Wolman I. J, Wurzel H. A, Moorhead P. S, Quails D. H. A chromosal female with haemophilia A. Blood 1961; 17: 719 12 Merskey C. The occurrence of haemophilia in the human female. Quart. J. Med. (New Series XX) 1951; 79: 299 13 Nilsson I. M, Blombäck M, Blombäck B. v: Willebrand's Disease in Sweden. Acta med. scand 1959; 164: 263 14 Nilsson I. M, Blombäck M, Ramgren O, v. Francken I. Carriers of Haemophilia A and B. Acta med. scand 1962; 171: 223 15 Nilsson I. M, Bergman S, Reitalu J, Waldenström J. Haemophilia A in a "girl" with male sex-chromatin pattern. Lancet 1959; II: 264 16 Nilsson I. M, Blombäck M, Ramgren O. Haemophilia in Sweden, I. Coagulation studies. Acta med. scand 170: 665 1961; 17 Pavlovsky A, de Pavlovsky M. C. Female haemophilia. In symposium on Hemophilia: Hemophilia and other hemorrhagic states based on the International Symposium Rome: Held in connection with the 7th Congress of the International Society of Haematology, September 12, 1958. Edited by Brinkhous, Chapel Hill; Univ. of Noth Carolina Press: 1959: 69 18 Pola V, Svojitka J. Klassische Hämophilie bei Frauen. Folia haemat. (Lpz.) 1957; 75: 43 19 Quick A, Hussey C. V. Haemophilia-like States in Girls. Lancet 1958; 1: 1294 20 Reitalu J. Observations on the so-called sex chromatin in man. Acta Genet. med. (Roma) 1957; 6: 393 21 Soulier J. P, Larrieu M. J. Déficit en facteur antihémophilique B avec allongement du temps de saignement. Sang 1957; 28: 138 22 Stefanovic S, Rolovic Z, Zujevic Mme J. Hemophilie A chez une fillette. Sang 1959; 30: 858 23 Wilkinson J. F, Israels M. C. G, Nour-Eldin F, Turner R. L. Unusual transmission of the haemophilic gene. Brit. med. J 1957; II: 1528
