Thrombopathia in American Eskimo Dog

Thrombopathia is a disease of the platelets causing increased bleeding. The affected breeds are mainly the Basset Hound, Landseer and American Eskimo Dog, in which different mutations associated with platelet dysfunction have been identified.  The disease causes a disorder of blood clotting and is therefore characterised by abnormal bleeding - the formation of small or large bruises on mucous membranes and skin, or internal bleeding. There may be bleeding from the nose or gums and blood may also appear in the stool. Affected dogs are at high risk from any injury or surgery.

In the American Eskimo dog, the disease is caused by the c.452dup mutation in the RASGRP2 gene, which plays an important role in activating proteins required for platelet aggregation.

The mode of inheritance of the mutation is autosomal recessive. This means that only individuals who inherit the mutated gene from both parents will develop the disease. Carriers of the mutated gene are clinically healthy but pass the mutation on to their offspring. In the case of a mating between two heterozygous individuals, theoretically 25% of the offspring will be completely healthy, 50% of the offspring will be carriers and 25% of the offspring will inherit the mutated gene from both parents and will therefore be affected by the disease.

The genetic test can clearly reveal the genotype of the animal and is a useful tool for breeders to prevent unintentional breeding of affected puppies.

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References:

Boudreaux, MK., Catalfamo, JL., Klok, M.: Calcium-diacylglycerol guanine nucleotide exchange factor I gene mutations associated with loss of function in canine platelets. Transl Res 150:81-92, 2007. Pubmed reference: 17656327