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Thrombocytopenia or macrothrombocytopenia (MTC) is an inherited disorder that is characterized by a reduced number of blood platelets (thrombocytes).
10 Arbeidsdager
Spesifikasjoner
| Breeds | |
|---|---|
| Gene | |
| Organ | |
| specimen | Svaber, EDTA blod, heparinblod, sæd, vev |
| Mode of Inheritance | |
| Chromosome | |
| Year Published |
Generell informasjon
Thrombocytopenia or macrothrombocytopenia (MTC) is an inherited 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 Cavalier King Charles Spaniel, and is caused by a recessive mutation to the gene TUBB1. A related version occurs in the Norfolk Terrier and Cairn Terrier.
Kliniske egenskaper
Affiserte hunder er klinisk friske, men blodprøver vil avsløre en reduksjon i antall trombocytter, som også kan være forstørret. Et redusert antall trombocytter kan også oppstå på grunn av infeksjoner, medisiner eller immunreaksjoner. Derfor er genetisk testing avgjørende for nøyaktig diagnose og riktig behandling.
Tilleggsinformasjon
Referanser
Pubmed ID: 18466252
Omia ID: 2434