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Severe hemophilia A

Disease definition

A severe form of hemophilia A characterized by a large deficiency of factor VIII (biological activity <1 IU/dL) leading to frequent spontaneous hemorrhage and abnormal bleeding as a result of minor injuries, or following trauma, surgery or tooth extraction. It primarily affects males but may also be observed in female carriers of disease-causing mutations.

ORPHA:169802

Classification level: Subtype of disorder
  • Synonym(s):
    • Severe congenital F8 deficiency
    • Severe congenital 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: -

Detailed information

Article for general public

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