Genetic Test
The TUBB1 gene encodes β-tubulin, a key component of microtubules.
During platelet production by megakaryocytes, β-tubulin plays a crucial role in forming and regulating the microtubule cytoskeleton, controlling cell division and assembly.
Mutations in this gene disrupt normal platelet production, often leading to thrombocytopenia.
Some variants also affect platelet size, causing macrothrombocytopenia, which is associated with impaired platelet function and increased bleeding risk.
Disease Description
Thrombocytopenia caused by TUBB1 mutations in dogs is a congenital disorder characterized by abnormally low platelet counts due to defective microtubule formation in megakaryocytes.
Reduced platelet numbers impair proper blood clotting at injury sites, resulting in frequent mucosal bleeding and skin hemorrhages (petechiae and ecchymoses).
Clinical severity ranges from mild nosebleeds (epistaxis) to potentially life-threatening internal bleeding.
Some affected dogs may show no obvious bleeding signs and are diagnosed incidentally during routine blood testing.
