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Haemophilia A is an inherited bleeding disorder caused by mutations in the Coagulation Factor VIII (F8, also known as FVIII) gene.
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Caractéristiques
| Breeds | |
|---|---|
| Gene | |
| Chromosome | X |
| Mode of Inheritance | Récessif lié au chromosome X |
| Organ | |
| Specimen | Écouvillon, Tube EDTA de sang, Tube héparine de sang, Paillette de semence, Tissu biologique – biopsie |
| Also known as | FVIII |
Informations générales
Haemophilia A is an inherited bleeding disorder caused by mutations in the Coagulation Factor VIII (F8, also known as FVIII) gene. Factor VIII is an essential protein in the blood clotting cascade, and deficiency or dysfunction of this factor impairs normal blood coagulation. As a result, affected dogs are unable to form stable blood clots efficiently, leading to prolonged or excessive bleeding. In the Havanese an X-linked recessive mutation is found that causes this condition.
Caractéristiques cliniques
Clinical signs may become apparent at a young age, often following trauma, surgery, teething, or other events that cause bleeding. Affected dogs may experience prolonged bleeding from minor wounds, excessive bruising, bleeding into joints or muscles, nosebleeds, and prolonged bleeding after surgical procedures or injury. In severe cases, spontaneous internal bleeding can occur, which may be life-threatening. The severity of clinical signs can vary depending on the level of Factor VIII activity, but affected dogs are generally at increased risk of recurrent bleeding episodes throughout life.
Additional Information
Références
Pubmed ID: Unpublished
Year published:
Omia ID: 437
Omia variant ID: