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Thrombocytopenia or macrothrombocytopenia (MTC) is a hereditary disorder characterized by a reduced number of blood platelets (thrombocytes), many of which are enlarged.
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Specifications
| Breeds | |
|---|---|
| Gene | |
| Chromosome | 24 |
| Mutation | c.745G>A |
| Organ | |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | Autosomal Recessive |
General information
Thrombocytopenia or macrothrombocytopenia (MTC) is a hereditary disorder characterized by a reduced number of blood platelets (thrombocytes), many of which are enlarged. Thrombocytes play an essential role in blood clotting (coagulation). Mutations in the ß1‑tubulin (TUBB1) gene have been identified as the cause of this reduction. Depending on the specific variant, symptoms may range from prolonged bleeding times to an apparently healthy animal.
The variant in this test occurs in the Cavalier King Charles Spaniel and is caused by a recessive mutation in TUBB1. This form is generally considered mild: affected dogs often show low platelet counts and enlarged platelets, but many remain clinically healthy without spontaneous bleeding problems.
A related mutation has been identified in the Norfolk Terrier and Cairn Terrier. This version is regarded as more severe, with affected dogs more likely to show clinical signs such as prolonged bleeding times, petechiae, or bruising.
Clinical features
Affected dogs are clinically healthy, but blood tests will reveal a reduction of the number of thrombocytes, that might also be enlarged. A reduced number of thrombocytes can also occur due to infections, medication or immune reactions. Therefore, genetic testing is crucial for accurate diagnosis and proper treatment.
Additional information
References
Pubmed ID: 18466252
Year published: 2008
Omia ID: 2434
Omia variant ID: