Macrothrombocytopenia (MTC) – Cairn and Norfolk Terrier
Code: H879
Short description
Thrombocytopenia or macrothrombocytopenia (MTC) is a hereditary disorder that is characterized by a reduced number of blood platelets (thrombocytes).
General information
Thrombocytopenia or macrothrombocytopenia (MTC) is a hereditary disorder that is characterized by a reduced number of blood platelets (thrombocytes). Many of the remaining thrombocytes are enlarged. Thrombocytes play an important role in the clotting of blood (a.k.a. coagulation). There are two mutations identified in the ß1-tubulin (TUBB1) gene to cause a reduction in thrombocytes. Depending on the variant, symptoms may range from prolonged bleeding times to an apparently healthy animal.
The variant in this test of the disorder is found in the Norfolk Terrier and Cairn Terrier, and is caused by a recessive mutation to the gene TUBB1. A related version occurs in the Cavalier King Charles Spaniel.
Specifications
| Breeds | |
|---|---|
| Gene | TUBB1 |
| Chromosome | 24 |
| Mutation | c.5G>A |
| Organ | Cardiovascular System |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | Autosomal Recessive |
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.
References
Pubmed ID: 25060661
Year published: 2014
Omia ID: 2434
Omia variant ID:
Turnaround information
- 15 working days