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

Ralph M. Loreth; Osman El-Maarri; Jörg Schröder; Ulrich Budde; Falko H. Herrmann; Johannes Oldenburg

doi:10.1160/TH05-01-0056

Thrombosis and Haemostasis, Inhaltsverzeichnis

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

Autor*innen

Ralph M. Loreth

¹Department of Clinical Haemostaseology, Medical Clinic III, West Palatinate Clinical Center, Kaiserslautern
Osman El-Maarri

²Institute of Experimental Hematology and Transfusion Medicine, University of Bonn, Bonn
Jörg Schröder

²Institute of Experimental Hematology and Transfusion Medicine, University of Bonn, Bonn
Ulrich Budde

³Coagulation Laboratory, Lab. Association Prof. Arndt and Partners, Hamburg
Falko H. Herrmann

⁴Institute of Human Genetics, University of Greifswald, Greifswald, Germany
Johannes Oldenburg

²Institute of Experimental Hematology and Transfusion Medicine, University of Bonn, Bonn

Abstract

Volltext

Referenzen

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.