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Haemophilia A / Factor VIII (German Shepherd Type)

Haemophilia A / Factor VIII (German Shepherd Type)

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Test Overview:

Genetic testing for F8 mutations HEMA-1 and HEMA-2 is recommended for German Shepherd breeding stock. Affected males (one mutated X chromosome) should not be bred. Female carriers should only be bred to males clear of mutations to avoid affected male offspring. Avoid mating two carriers. Sharing test results ensures responsible breeding to reduce disease incidence.

Category:

Haemolymphatic - Associated with the blood and lymph

Gene:

F8 on Chromosome X

Variant Detected:

c.98G>A and c.1643G>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:

1. PT/APTT testing (i.e. coagulation profile at local laboratory) – APTT prolonged and PT normal with haemophilia (good screening test prior to desexing etc) 2. Factor VIII activity testing for all male breeding animals prior to breeding (e.g. at 1 year of age). Requires sample to be sent to specialised laboratory – contact your laboratory or Breed Club for details. This is the current testing used by German shepherd clubs within Australia for certification, and the sire and dam are also recorded. 3. Factor VIII testing can be carried out on any male animal if owner concerned. Ensure testing done prior to desexing (e.g. if coagulation profile is abnormal, recommend this).

Research Citation(s):

Vet Rec. 2011 Nov 5;169(19):496b

Associated Breed(s):

German Shepherd Dog, Mixed Breed, White Swiss Shepherd,

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