Hemophilia A (German Shepherd Dog, Type 2)

Other Names: Factor VIII deficiency
Affected Genes: F8
Inheritance: X-Linked Recessive
Mutation: Point Mutation
Breed(s): German Shepherd Dog, Shiloh Shepherd, White Shepherd Dog

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Common Symptoms

Hemophilia A (German shepherd dog, type 2) is an inherited bleeding disorder affecting dogs. Hemophilia A (German shepherd dog, type 2) is caused by a deficiency of coagulation factor VIII, which is an essential protein needed for normal blood clotting. Affected dogs generally exhibit mild to moderate signs of a bleeding disorder. Affected dogs may bruise easily, have frequent nosebleeds, bleed from the mouth when juvenile teeth are lost, and experience prolonged bleeding after surgery or trauma. Dogs may show signs of lameness or stiffness if bleeding occurs in the joints or muscle. Less often, the bleeding may be severe enough to cause death. Due to the variable severity of the disorder, affected dogs may not be identified until a surgery is performed or trauma occurs at which time excessive bleeding is noted. Veterinarians performing surgery on known affected dogs should have ready access to blood banked for transfusions. Most dogs will have a normal lifespan with this condition despite increased blood clotting times.


Testing Tips

Genetic testing of the F8 gene will reliably determine whether a dog is a genetic Carrier of hemophilia A (German shepherd dog, type 2). Hemophilia A (German shepherd dog, type 2) is inherited in an X-Linked Recessive manner in dogs meaning that female dogs must receive two copies of the mutated gene (one from each parent) to develop the disease while male dogs only require one copy of the mutated gene from the mother in order to develop disease. Therefore, male dogs more commonly present with symptoms of the disease. Each male pup that is born to a female dog known to be a carrier of hemophilia A (German shepherd dog, type 2) has a 50% chance of inheriting the disease. Reliable genetic testing is important for determining breeding practices. Because symptoms may be mild in affected dogs and female carriers generally do not have features of the disease, genetic testing should be performed before breeding. In order to eliminate this Mutation from breeding lines and to avoid the potential of producing affected pups, breeding of known carriers to each other is not recommended. Dogs that are not carriers of the mutation have no increased risk of having affected pups.


There may be other causes of this condition in dogs and a normal result does not exclude a different mutation in this gene or any other gene that may result in a similar genetic disease or trait.


References

  • Christopherson PW, Bacek LM, King KB, Boudreaux MK. Two novel missense mutations associated with hemophilia A in a family of boxers, and a German shepherd dog. Vet Clin Pathol. 2014 Sep;43(3):312-6. [PubMed: 25040606]