Thromb Haemost 2006; 95(04): 747-748
DOI: 10.1160/TH05-01-0056
Letters to the Editor
Schattauer GmbH

Haemophilia A in a female caused by coincidence of a Swyer syndrome and a missense mutation in factor VIII gene

Ralph M. Loreth
1   Department of Clinical Haemostaseology, Medical Clinic III, West Palatinate Clinical Center, Kaiserslautern
,
Osman El-Maarri
2   Institute of Experimental Hematology and Transfusion Medicine, University of Bonn, Bonn
,
Jörg Schröder
2   Institute of Experimental Hematology and Transfusion Medicine, University of Bonn, Bonn
,
Ulrich Budde
3   Coagulation Laboratory, Lab. Association Prof. Arndt and Partners, Hamburg
,
Falko H. Herrmann
4   Institute of Human Genetics, University of Greifswald, Greifswald, Germany
,
Johannes Oldenburg
2   Institute of Experimental Hematology and Transfusion Medicine, University of Bonn, Bonn
› Institutsangaben
Weitere Informationen

Publikationsverlauf

Received 24. Januar 2005

Accepted after resubmission 02. Februar 2006

Publikationsdatum:
30. November 2017 (online)

 

 
  • References

  • 1 David D, Morais C, Ventura C. et al. Female haemophiliac homozygous for the factor VIII intron 22 inversion mutation, with transcriptional inactivation of one of the factor VIII alleles. Haemophilia 2003; 09: 125-30.
  • 2 Windsor S, Lyng A, Taylor SA. et al. Severe hemophilia A in a female resulting from two de novo factor VIII mutations. Br J Haematol 1995; 90: 906-9.
  • 3 Acquila M, Caprino D, Bicocchi P. et al. A skewed lyonization phenomenon as cause of hemophilia A ina female patient. Blood 1995; 85: 599-600.
  • 4 Mannucci PM, Coppola R, Lombardi R. et al. Direct proof of exttreme lyonisation as a cause of low factor VIII levels in female. Thromb Haemost 1978; 39: 544-5.
  • 5 Favier R, Lavergne JM, Costa JM. et al. Unbalanced X-chromosome inactivation with novel FVIII gene mutation resulting in severe hemophilia in a female. Blood 2000; 96: 4373-5.
  • 6 Chuansumrit A, Sasanakul W, Goodeve A. et al. Inversion of intron 22 of factor VIII gene in a girl with severe hemophilia A and Turner’s syndrome. Thromb Haemost 1999; 82: 1379.
  • 7 Mazurier C, Gaucher C, Jorieux S. et al. Evidence for a von Willebrand factor defect in factor VIII binding in three members ofa family previously misdiagnosed mild hemophilia A and hemophilia A carriers: consequences for therapy and genetic counselling. Br J Haematol 1990; 76: 372-9.
  • 8 Moreira-Filho CA, Toledo SP, Bagnolli VR. et al. H-Y antigen in Swyer syndrome and the genetics of XY gonadal dysgenesis. Hum Genet 1979; 53: 51-6.
  • 9 Kent A, Ellwood D, Simpson E. et al. 46, XY sex-reversal (Swyer syndrome) and congenital diaphragmatic hernia. Am J Med Genet 2004; 131A: 103-5.
  • 10 Federman DD. Three facets of sexual differentiation. N Engl J Med 2004; 350: 323-4.
  • 11 McLaughlin DT, Donahoe PK. Sex determination and differentiation. N Engl J Med 2004; 350: 367-78.
  • 12 Oldenburg J, Ivaskevicius V, Rost S. et al. Evaluation of DHPLC in the analysis of hemophilia A. J Biochem Biophys Methods 2001; 47: 39-51.
  • 13 Kemball-Cook G, Tuddenham EG, Wacey AI. The factor VIII Structure and Mutation Resource Site: HAMSTeRS version 4. http://europium.csc.mrc.ac.uk Nucleic Acids Res 1998; 26: 216-9.