Glanzmann's Thrombasthenia (Otterhound Type)

Other Names: Thrombasthenia, Thrombasthenic thrombopathia, GT
Affected Genes: ITGA2B
Inheritance: Autosomal Recessive
Mutation: Point Mutation

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Common Symptoms

Glanzmann's thrombasthenia (otterhound type) is an inherited bleeding disorder affecting otterhounds. Affected dogs have abnormal platelet activity. Platelets are blood cells that are necessary for the normal clotting of blood. Affected dogs often present before one year of age with bleeding gums as their permanent teeth are erupting. Affected dogs may also have frequent bloody noses, blood in the urine (hematuria), dark red-black tarry stool (melena), bruising of the skin and prolonged bleeding after surgery or trauma.


Breed-Specific Information for the Otterhound

The Mutation of the ITGA2B gene associated with Glanzmann’s thrombasthenia (otterhound type) has been identified in otterhounds, although its overall frequency in this breed is unknown.


Testing Tips

Genetic testing of the ITGA2B gene in otterhounds will reliably determine whether a dog is a genetic Carrier of Glanzmann’s thrombasthenia (otterhound type). Glanzmann’s thrombasthenia (otterhound type) is inherited in an Autosomal Recessive manner in dogs meaning that they must receive two copies of the mutated gene (one from each parent) to develop the disease. In general, carrier dogs do not have features of the disease but when bred with another carrier of the same Mutation, there is a risk of having affected pups. Each pup that is born to this pairing has a 25% chance of inheriting the disease and a 50% chance of inheriting one copy and being a carrier of the ITGA2B gene mutation. Reliable genetic testing is important for determining breeding practices. 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. Otterhounds that are not carriers of the mutation have no increased risk of having affected pups.


References

  • Boudreaux MK, Catalfamo JL. Molecular and genetic basis for thrombasthenic thrombopathia in Otterhounds. Am J Vet Res. 2001 Nov; 62(11):1797-804. [PubMed: 11703027]