Glanzmann Thrombasthenia - Great Pyrenees

Glanzmann’s thrombasthenia is an inherited autosomal recessive blood clotting disorder characterized by impaired platelet function. Affected dogs show bleeding due to defective haemostatic plug formation. Clinical signs usually appear between 3 and 6 months of age. Symptoms may include gum bleeding, bruising, blood in urine, frequent bleeding from nose, small dots of blood on the skin and mucous membranes. The disease may be divided into three types: type I, type II and normal variant. Type I is characterized by severe quantitative platelet deficiency, type II by moderate quantitative platelet deficiency and normal variant by relatively normal quantity but reduced function of platelets. In Great Pyrenees dog type I variant was associated with ITGA2B gene.

Inheritance: autosomal recessive

Mutation: ITGA2B gene

Genetic test: The method used for genetic testing is extremely accurate and allows complete differentiation between affected animals, carriers and healthy dogs. DNA testing can be done at any age.