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Haemophilia A/Factor VIII Deficiency (Boxer Type)

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Test Overview:

Genetic testing for the Boxer-specific F8 mutation is crucial to identify carriers and affected dogs. Affected males should not be bred. Female carriers should be bred only to males clear of the mutation to prevent affected male offspring. Avoid mating two carriers. Sharing genetic testing results promotes responsible breeding and reduces disease prevalence.

Category:

Haemolymphatic - Associated with the blood and lymph

Gene:

F8

Variant Detected:

c.1412C>G in exon 10

Severity:

Severe. This disease has a high impact on affected animals, either with severe clinical signs causing significant suffering, or carrying a rapidly fatal course.

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 (boxer type).

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):

Boxer ,

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