Haemophilia A in a Girl with Female Sex-Cliromatin Pattern

Summary

A sporadic case of haemophilia is diagnosed in an eleven year old girl. The AHG level was 1-1.25%. Chromosome studies have shown female sex-chromatin pattern.

• References

• 1 Brinkhous K. M, Graham J. B. Occurence of hemophilia in female. J. Lab. clin. Med. 34: 1587 1949;
• 2 Graham J. B, Buchwalter J. A, Hartley L. J, Brinkhous K. M. Canine hemophilia. J. Exp. Med. 90: 97 1949;
• 3 Brinkhous K. M, Graham J. B. Hemophilia in the female dog. Science 111: 723 1950;
• 4 Bauer K. H. Zur Vererbungs-und Konstitutionspathologie der Hämophilie. Dtsch. Z. Chir. 176: 109 1922;
• 5 Israel MCG, Lempert H, Gilbertson E. Haemophilia in the female. Lancet I: 1375 1951;
• 6 Finniger J. L, Franks R. B. Haemophilia in the female. Lancet II: 82 1951;
• 7 Quick A. J, Hussey G. V. Hemophilia condition in a Girl. Amer. J. Dis. Child. 85: 698 1958;
• 8 Fantl P, Margolis J. Alpha-prothromboplastin deficiencies (Haemophilia) of differing degree in a mother and son. Brit. Med. J. I: 640 1955;
• 9 Choremis K. B, Zervos N, Tsevrenis H, Apostolopoulou E, Mandalaki T. Hemophilie A chez une fille agee de deux ans. Helv. paediat. Acta. 03: 305 1956;
• 10 Pola V, Svojitka J. Klassische Hämophilie bei Frauen. Folia Haemat. 75: 1 1957;
• 11 Taylor K, Biggs R. A mildly affected female haemophiliac. Brit. Med. J. I: 1494 1957;
• 12 Douglas A. S, Cook I. A. Deficiency of Antihaemophilic Globulin in heterozygous haemophilic females. Lancet II: 616 1957;
• 13 Wilkinson J. F, Israel MCG, Nour-Eldin F, Turner R. L. Unusual transmission of the haemophilic gene. Brit. Med. J. II: 1528 1957;
• 14 Quick A. J, Hussey C. V. Haemophilia-like states in girls. Lancet I: 1294 1958;
• 15 McGovern J. J, Steinberg A. G. Antihemophilic factor deficiency in the female. J. Lab. clin. Med. 51: 386 1958;
• 16 Nilsson I. M, Bergman S, Reitalu J, Waldenstrom J. Haemophilia A in a “girl” with male sex-chromatin pattern. Lancet II: 264 1959;
• 17 Braun E. H, Stollar D. B. Spontaneous haemophilia in a female. Thrombos. Diathes haemorrh. (Stuttg) 04: 369 1960;
• 18 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;
• 19 Hardisty R. M. Christmas disease in a women. Brit. Med. J. I: 1039 1957;
• 20 Nilehn J. E, Nilsson I. M. Haemophilie B in a girl. Thrombos. Diathes. haemorrh. (Stuttg) 07: 552 1962;
• 21 Ulutin O. N. Hemorajik Diyatez. Yeni Tip Alemi Yayinlari; Istanbul: 1964
• 22 Lee R. I, White P. D. A clinical study of the coagulation time of blood. Amer. J. med. Sci. 145: 495 1913;
• 23 Rosenthal R. L. Blood coagulation in leukemia and polycythemia. J. Lab. clin. Med. 34: 1321 1949;
• 24 Quick A. J. Hemorrhagic diseases. Henry Kimpton; London: 1957
• 25 Studer A, Winterstein A. Helv. physiol, pharmacol. Acta. 09: 6 1951;
• 26 Brecher G, Cronkite E. P. Morphology and enumeration of human blood platelets. J. appl. Physiol. 03: 365 1950;
• 27 Inceman S. Thrombopathie hémorragique avec alteration elective des functions d’agglutination. Sang. 26: 190 1955;
• 28 Borchgrevink C. F. Studies on the hemostatic mechanism. Oslo Univ. Press; 1961
• 29 Borchgrevink G. F. Platelet adhesiveness in vivo in patients with bleeding disorders. Acta med. scand. 170: 231 1961;
• 30 Copies A. L, Niewiarowski S, Maechal J. A micromethod of euglobulin fibrinolysis in plasma of human subjects and small laboratory animals. J. Lab. clin Med. 53: 468 1959;
• 31 Biggs R, Douglas A. S. The thromboplastin generation test. J. clin. Path. 06: 23 1953;
• 32 Ulutin O. N, Karaca M, Sestakof D. Tromboplastin husul testi ve klinik degeri. Türk Tip Cem. Mec. 24: 527 1958;
• 33 Pitney W. R. The assay of antihaemophilic globulin (AHG) in plasma. Brit. J. Haemat. 02: 250 1956;
• 34 Hartert H. Blutgerinnungsstudien mit thromboelastographie, einem neuen Untersuchungsverfahren. Klin. Wschr. 26: 577 1948;
• 35 Braunsteiner H, Fellinger K, Pakesch F. Elektronenmikroskopische Beobachtungen der Blutplättchen bei Thrombasthenia. Klin. Wschr. 31: 21 1953;
• 36 Davidson W. M, Smith D. H. A morphological sex difference in the polymporphonuclear leucocytes. Brit. med. J. II: 6 1954;
• 37 Moorhead P. S, Nowell P. C, Mellman W. J, Batipps D. M, Hungerford D. A. Chromosomes preparations of leukocytes cultured from human peripheral blood. Exper. Cell Res. 20: 613 1960;
• 38 Ulutin O. N. The role of the platelets in von Willebrand’s disease. New Istanbul Contr. clin. Sci. 07: 190 1964;
• 39 Graham J. B, McLendon W. W, Brinklious K. M. Mild hemophilia: An allelic form of the disease. Amer. med. Sci. 225: 46 1953;
• 40 Biggs R, Macfarlane R. G. Haemophilia and related conditions : A survey of 187 cases. Brit. J. Haemat. 04: 1 1958;
• 41 Pitney W. R, Arnold J. B. Plasma antihaemophilic factor (AHF) concentrations in families of patients with haemorrhagic states. Brit. J. Haemat. 05: 184 1959;
• 42 Nilsson I. M, Blombäck M, Thilen A, Francken I. V. Carriers of hemophilia A. Acta med. scand. 165: 357 1959;
• 43 Bentley H. P, Krivit W. An assay of antihemophilic globulin activity in the carrier female. J. Lab. clin. Med. 56: 613 1960;
• 44 Rapaport S. I, Patch M. J, Moore F. J. Antihemophilic globulin levels in carriers of hemophilia A. J. clin Invest. 39: 1619 1960;
• 45 Nilsson I. M, Blombäck M, Ramgren O, Francken I. V. Haemophilia in Sweden I. Carriers of haemophilia A and B. Acta med. scand. 171: 233 1962;
• 46 Lewis J. H, Didisheim P, Ferguson J. H, Li C. C. Genetic considerations in familial hemorrhagic disease. I. The sex-linked recessive disorders, hemophilia and PTC deficiency. Amer, hum. Genet. 15: 53 1963;
• 47 Miller S. P, Siggerud J. Abnormal blood coagulation in carriers of hemophilia. J. Lab. clin. Med. 63: 621 1964;