Haemophilia A – Old English Sheepdog
Kodas: H953
Short description
Haemophilia A, also called Factor VIII Deficiency, is the most common bleeding disorder in dogs.
General information
Haemophilia A, also called Factor VIII Deficiency, is the most common bleeding disorder in dogs. Caused by an X-linked recessive mutation to the gene F8, the disease strongly impairs the blood’s ability to clot, which can lead to severe symptoms such as spontaneous internal bleeding, or uncontrolled bleeding after injury or surgery. The specific variant of the disease analysed in this test occurred in an Old English Sheepdog. Related variants are also found in the Irish Setter and Miniature Schnauzer, Boxer, German Shepherd, and the Rhodesian Ridgeback.
Specifications
| Breeds | |
|---|---|
| Gene | F8 |
| Chromosome | X |
| Mutation | c.1786C>T |
| Organ | Cardiovascular System |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | X-Linked Recessive |
| Also known as | FVIII |
Clinical features
Haemophilia A can result in frequent bleeding of the joints and soft tissues. Common clinical signs in dogs include bleeding from the mouth, subcutaneous and intramuscular haematomas and lameness.
Additional information
This variant seems to be a potentially spontaneous (de novo) recessive mutation found in one single Old English Sheepdog.
References
Pubmed ID: 27780008
Year published: 2016
Omia ID: 437
Omia variant ID:
Turnaround information
- 10 working days