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Factor XI Deficiency

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Test Overview:

Factor XI Deficiency affects dogs and is an inherited clotting disorder. The Factor X1 protein is essential for regular blood clotting. Without this factor, the results are most commonly a mild bleeding disorder. Affected dogs may have frequent nose bleeds, bruise easily, and exhibit prolonged bleeding after trauma or surgery, with some rare cases of the bleeding being severe. This disorder is generally mild, therefore affected dogs may not be identified until a traumatic event or surgery at which time the excessive bleeding would become visible and noted. Veterinarians who are performing surgery on dogs who are known to have this disorder should have ready access to blood for transfusions. Most dogs with this disorder would have normal lifespans.

Category:

Haemolymphatic - Associated with the blood and lymph

Gene:

F11

Variant Detected:

chr16:44477343-44477344 (canFam3): 90 bp insertion; chr16:44477344-44477353 (canFam3): 10 bp duplication (dup GCACAAAGCT)

Severity:

Low-Moderate. This disease can cause some discomfort and/or dysfunction in the affected animal. It does not generally affect life expectancy.

Mode of Inheritance:

Autosomal Recessive

Recommended Screening:

Genetic testing of the F11 gene will reliably determine if a dog is a genetic carrier of factor XI deficiency.

Research Citation(s):

Knowler C, Giger U, Dodds WJ, Brooks M. Factor XI deficiency in Kerry Blue Terriers. J Am Vet Med Assoc. 1994 Dec 1;205(11):1557-61. [PubMed: 7730123] Tcherneva E, Giger U. Molecular Base Of Coagulation Factor XI Deficiency In Kerry Blue Terrier. Bulg. J. Vet. Med., 10, No 4, 247-255. [Not in PubMed]

Associated Breed(s):

Kerry Blue Terrier, Mixed Breed,

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