Coagulation Factor VII Deficiency
Affected Genes: F7
Inheritance: Autosomal Recessive
Variant(canFam6):
chr22:60291298: G>A
Breed: Airedale Terrier
Alaskan Klee Kai
American Foxhound
Aussiedoodle
Australian Shepherd
Beagle
Deutsch Kurzhaar
Deutsch-Drahthaar
Finnish Hound
German Shorthaired Pointer
German Wirehaired Pointer
Giant Schnauzer
Irish Water Spaniel
Japanese Spitz
Miniature American Shepherd
Miniature Australian Shepherd
Miniature Schnauzer
Papillon
Phalene
Redbone Coonhound
Schnoodle
Scottish Deerhound
Sealyham Terrier
Toy Australian Shepherd
Welsh Springer Spaniel
General Information: Coagulation Factor VII Deficiency (FVII) is a genetic bleeding disorder that results from a deficiency in factor VII, a crucial protein required for normal blood clotting. Dogs with this condition typically exhibit a mild bleeding disorder. Affected dogs may bruise easily, experience frequent nosebleeds, and show prolonged bleeding after surgery or trauma. In rare cases, the bleeding can be severe. Because the disorder is often mild, it may not be identified until a surgery is performed or trauma occurs, revealing excessive bleeding. Veterinarians performing surgery on dogs known to have coagulation factor VII deficiency should have access to banked blood for transfusions. Despite the increased blood clotting times, most dogs with this condition can lead normal lifespans with proper management.
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 for Coagulation Factor VII Deficiency (FVII) involves screening for mutations in the F7 gene to determine carrier status. This disorder is inherited in an autosomal recessive manner, meaning dogs must inherit two copies of the mutated gene (one from each parent) to develop the disease. Carrier dogs, which have only one copy of the mutated gene, typically do not exhibit symptoms but can pass the mutation to their offspring. Each pup born to two carriers has a 25% chance of inheriting the disease and a 50% chance of being a carrier. Reliable genetic testing is crucial for responsible breeding practices. To avoid producing affected puppies and eliminate the mutation from breeding lines, it is essential not to breed two known carriers. Dogs that are not carriers of the mutation do not pose a risk of producing affected offspring.
References:
Callan MB, Aljamali MN, Griot-Wenkl ME, Pollak ES, Werner P, Giger U, High KA. Molecular characterization of hereditary factor VII deficiency in the beagle. J Vet Intern Med. 2005; 19: 448-449 (abstract) [not in PubMed] Callan MB, Aljamali MN, Margaritis P, Griot-Wenk ME, Pollak ES, Werner P, Giger U, High KA. A novel missense mutation responsible for factor VII deficiency in research Beagle colonies. J Thromb Haemost. 2006 4(12):2616-2622.
Carlstrom LP, Jens JK, Dobyns ME, Passage M, Dickson PI, Ellinwood NM. Inadvertent propagation of factor VII deficiency in a canine mucopolysaccharidosis type I research breeding colony. Comp Med. 2009 59(4):378-382.
Donner J, Kaukonen M, Anderson H, Moller F, Kyostila K, Sankari S, Hytonen M, Giger U, Lohi H. Genetic Panel Screening of Nearly 100 Mutations Reveals New Insights into the Breed Distribution of Risk Variants for Canine Hereditary Disorders. PLoS One 2016 11(8):e0161005.
Kaae JA, Callan MB, Brooks MB. Hereditary factor VII deficiency in the Alaskan Klee Kai dog. J Vet Intern Med. 2007 Sep-Oct;21(5):976-981.
Withnall E, Giger U. Effects of recombinant human activated factor VII and canine fresh frozen plasma in Beagles with hereditary coagulation factor VII deficiency. J Vet Intern Med. 2006 20:766