Bernard – Soulier syndrome (BSS) is a rare bleeding disorder affecting platelet function found in humans and dogs (Cocker Spaniel). The main molecular feature of BSS is the lack of functional glycoprotein Ib-IX-V on the platelet surface responsible for weakened binding to von Willebrand factor and reduced ability to adhere to damaged vascular walls. In affected dogs macrothrombocytopenia is present with almost half of the platelets approximating the red blood cell volume. The most common clinical signs in dogs are frequently overlooked bleeding tendencies such as episodic and self-limiting gingival bleeding. After trauma severe haemorrhages can occur and, in such cases, the only recommended therapy is a whole blood or platelet rich plasma from a fully compatible dog. The age of onset of clinical signs is 2 to 4 years. According to studies the disease shows autosomal recessive mode of inheritance.

Inheritance: autosomal recessive - read more

Mutation: GP9 gene

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

Disease control: read more

DNA test sample: EDTA whole blood (1.0 ml) or buccal swabs. Detailed information about sampling can be found here.