Molecular etiology of factor VIII deficiency in hemophilia A

  • Stylianos E. Antonarakis
  • Haig H. Kazazian
  • Jane Gitschier
  • Pierre Hutter
  • Philippe de Moerloose
  • Michael A. Morris
Part of the Advances in Experimental Medicine and Biology book series (AEMB, volume 386)


The gene for factor VIII (F.VIII) is located on the human X chromosome; and, consequently hemophilia A is a classic example of X-linked recessive inheritance. It occurs almost exclusively in males who have only one X chromosome; females with one abnormal F.VIII gene are asymptomatic carriers because the other X chromosome contains a normal gene. The frequency of the disorder is 1–2 in 10,000 male births in all ethnic groups. The severity and frequency of bleeding in the patients correlates with the F.VIII activity in plasma (Rizza et al., 1983; Hoyer, 1987).


Factor VIII Factor Viii Deficiency Factor Viii Gene Mild Hemophilia Partial Inversion 
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Copyright information

© Plenum Press, New York 1995

Authors and Affiliations

  • Stylianos E. Antonarakis
    • 1
    • 2
  • Haig H. Kazazian
    • 2
  • Jane Gitschier
    • 3
  • Pierre Hutter
    • 1
  • Philippe de Moerloose
    • 4
  • Michael A. Morris
    • 1
  1. 1.Division of Medical GeneticsUniversity of Geneva Medical School and Cantonal HospitalGenevaSwitzerland
  2. 2.Center for Medical GeneticsThe Johns Hopkins University School of MedicineBaltimoreUSA
  3. 3.Howard Hughes Medical Institute and University of CaliforniaSan FranciscoUSA
  4. 4.Hemostasis UnitCantonal Hospital of GenevaSwitzerland

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