Download PDF
Thromb Haemost 1999; 82(04): 1379
DOI: 10.1055/s-0037-1614406
Letters to the Editor
Schattauer GmbH

Inversion of Intron 22 of the Factor VIII Gene in a Girl with Severe Hemophilia A and Turner’s Syndrome

Ampaiwan Chuansumrit
5   From the Department of Pediatics, Royal Hallamshire Hospital, Sheffield, U.K.
,
Werasak Sasanakul
1   Research Center, Royal Hallamshire Hospital, Sheffield, U.K.
,
Anne Goodeve
2   Section of Molecular Genetics and Haematology, Department of Medicine and Pharmacology, Royal Hallamshire Hospital, Sheffield, U.K.
,
Taneenat Treratvirapong
3   Taksin Hospital, Bangkok, Thailand, Royal Hallamshire Hospital, Sheffield, U.K.
,
Rachanee Parinayok
4   Pathology, Faculty of Medicine, Ramathibodi Hospital, Royal Hallamshire Hospital, Sheffield, U.K.
,
Pakaimas Pintadit
1   Research Center, Royal Hallamshire Hospital, Sheffield, U.K.
,
Phongjan Hathirat
5   From the Department of Pediatics, Royal Hallamshire Hospital, Sheffield, U.K.
› Author Affiliations
Further Information

Publication History

Received 29 January 1999

Accepted 11 February 1999

Publication Date:
08 December 2017 (online)

Also available at
    Permissions and Reprints

 

 

  • References

  • 1 Morita H, Kagami M, Ebata Y, Yoshimura H. The occurrence of homozygous hemophilia in the female. Acta Haemotol 1971; 45: 112-9.
    PubMedSearch in Google Scholar
  • 2 Pietu G, Thomas-Maison N, Sie P, Larrieu M, Meyer D. Hemophilia A in a female: study of a family using intragenic and extragenic restriction site polymorphisms. Thromb Haemost 1988; 60: 102-6.
    Thieme ConnectPubMedSearch in Google Scholar
  • 3 Mannucci PM, Coppola R, Lombardi R, Papa M, De Baisi R. Direct proof of extreme lyonization as a cause of low factor VIII levels in female. Thromb Haemost 1978; 39: 544-5.
    Thieme ConnectPubMedSearch in Google Scholar
  • 4 Gilchrist GS, Hammond D, Melnyk J. Hemphilia A in a phenotypically normal female with XX/XO mosaicism. N Engl J Med 1965; 273: 1402-6.
    CrossrefPubMedSearch in Google Scholar
  • 5 Windsor S, Lyng A, Taylor SAM, Ewenstein BM, Neufeld E, Lillicrap D. Severe hemophilia A in a female resulting from two de novo factor VIII mutations. Br J Haematol 1995; 90: 906-9.
    CrossrefPubMedSearch in Google Scholar
  • 6 Antonarakis SS. A consortium of 65 International Authors. Factor VIII gene inversion in severe haemopohilia A-results of an international consortium study. Blood 1995; 86: 2206-12.
    PubMedSearch in Google Scholar