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Factor XI Deficiency

Factor XI deficiency is an inherited clotting disorder in Kerry Blue Terriers characterized by a mild bleeding tendency, which can result in easy bruising, frequent nosebleeds, and prolonged bleeding after surgery or trauma, though most affected dogs live normal lifespans.




Affected Genes: F11

Inheritance: Autosomal Recessive With Variable Expressivity

Variant(canFam6):
chr16:44964058: 90 bp insertion with 10 bp duplication GCACAAAGCT

Breed: Kerry Blue Terrier

General Information: Factor XI deficiency is an inherited clotting disorder in dogs, causing a mild bleeding tendency that may result in easy bruising, frequent nosebleeds, and prolonged bleeding after surgery or trauma. In rare cases, bleeding can be severe. Often, the disorder is only identified during surgery or after an injury when excessive bleeding occurs. Veterinarians should have access to blood for transfusions when performing surgery on affected dogs. Despite the increased clotting times, most dogs with this condition live normal lifespans.

How to Read Your Dog's Test Results for this Genetic Variant:

Two Variants Detected: Dog Likely Affected

One Variant Detected: Dog Unlikely Affected

No Variants Detected: No Effect

Gene / Testing Information: Genetic testing of the F11 gene can identify carriers of Factor XI deficiency in dogs. This autosomal recessive disorder requires two copies of the mutated gene for the disease to manifest. Carrier dogs typically do not show symptoms, but breeding two carriers together can produce affected pups, with each pup having a 25% chance of developing the disease. Reliable genetic testing is crucial for informed breeding practices to prevent this mutation. Breeding non-carrier dogs poses no risk of producing affected pups.

References:
Knowler C, Giger U, Dodds WJ, Brooks M. Factor XI deficiency in Kerry Blue Terriers. J Am Vet Med Assoc. 1994 205(11):1557-1561.

Tcherneva E, Giger U. Molecular Base Of Coagulation Factor XI Deficiency In Kerry Blue Terrier. Bulg. J. Vet. Med., 10(4):247-255.