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Severe hemophilia A

Disease definition

Severe hemophilia A is a form of hemophilia A (see this term) characterized by a large deficiency of factor VIII leading to frequent spontaneous hemorrhage and abnormal bleeding as a result of minor injuries, or following surgery or tooth extraction.

ORPHA:169802

Classification level: Subtype of disorder
  • Synonym(s):
    • Severe factor VIII deficiency
  • Prevalence: 1-9 / 100 000
  • Inheritance: X-linked recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: D66
  • OMIM: 306700
  • UMLS: C0272322
  • MeSH: -
  • GARD: -
  • MedDRA: -

Summary

Epidemiology

Severe hemophilia A accounts for around 40% of all cases of hemophilia A.

Clinical description

The biological activity of factor VIII is below 1%.

Etiology

The disorder is caused by mutations in the F8 gene (Xq28) encoding coagulation factor VIII.

Genetic counseling

Transmission is X-linked recessive.

Expert reviewer(s):  Pr Claude NEGRIER - Last update: May 2009

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The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.