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Hemophilia A (German Shepherd Dog, Type 1)

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Test Overview:

Hemophilia A (German shepherd dog, type 1) affects dogs and is an inherited bleeding disorder. This disorder is caused by a deficiency of coagulation factor VIII, which is an essential protein needed for normal blood clotting. Dogs affected by this disorder will 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 trauma or surgery. 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. As a result of the variable severity of the disorder, affected dogs may not be identified until a trauma or surgery at which time excessive bleeding is visible and noted. Veterinarians performing surgery on known affected dogs should have ready access to blood for transfusions. Most dogs will have a normal lifespan with this condition.

Category:

Haemolymphatic - Associated with the blood and lymph

Gene:

F8

Variant Detected:

chrX:122975611 (canFam3): G>A

Severity:

Moderate. This disease can cause significant signs of discomfort and/or dysfunction in affected animals. It may involve relatively high treatment/management costs, and can sometimes reduce life expectancy.

Mode of Inheritance:

Autosomal X-Linked

Recommended Screening:

Genetic testing of the F8 gene will reliably determine if a dog is a genetic carrier of hemophilia A (German shepherd dog, type 1).

Research Citation(s):

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. doi: 10.1111/vcp.12172. [PubMed: 25040606]

Associated Breed(s):

German Shepherd Dog,

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