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Molecular etiology of factor VIII deficiency in hemophilia A

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Inhibitors to Coagulation Factors

Part of the book series: Advances in Experimental Medicine and Biology ((AEMB,volume 386))

Abstract

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).

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Author information

Authors and Affiliations

  1. Division of Medical Genetics, University of Geneva Medical School and Cantonal Hospital, Geneva, Switzerland

    Stylianos E. Antonarakis, Pierre Hutter & Michael A. Morris

  2. Center for Medical Genetics, The Johns Hopkins University School of Medicine, Baltimore, Maryland, USA

    Stylianos E. Antonarakis & Haig H. Kazazian

  3. Howard Hughes Medical Institute and University of California, San Francisco, California, USA

    Jane Gitschier

  4. Hemostasis Unit, Cantonal Hospital of Geneva, Switzerland

    Philippe de Moerloose

Authors
  1. Stylianos E. Antonarakis
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  2. Haig H. Kazazian
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  3. Jane Gitschier
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  4. Pierre Hutter
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  5. Philippe de Moerloose
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Editors and Affiliations

  1. Mount Sinai Medical School, New York, New York, USA

    Louis M. Aledort

  2. American Red Cross Biomedical Services, Rockville, Maryland, USA

    Leon W. Hoyer

  3. Wayne State University School of Medicine and The Children’s Hospital of Michigan, Detroit, Michigan, USA

    Jeanne M. Lusher

  4. University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA

    Howard M. Reisner  & Gilbert C. White II  & 

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© 1995 Plenum Press, New York

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Antonarakis, S.E., Kazazian, H.H., Gitschier, J., Hutter, P., de Moerloose, P., Morris, M.A. (1995). Molecular etiology of factor VIII deficiency in hemophilia A. In: Aledort, L.M., Hoyer, L.W., Lusher, J.M., Reisner, H.M., White, G.C. (eds) Inhibitors to Coagulation Factors. Advances in Experimental Medicine and Biology, vol 386. Springer, Boston, MA. https://doi.org/10.1007/978-1-4613-0331-2_2

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  • DOI: https://doi.org/10.1007/978-1-4613-0331-2_2

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