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Glanzmann’s Thrombasthenia (GT) is a bleeding disorder caused by defective platelets, which can result in uncontrolled bleeding.
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Caractéristiques
| Breeds | |
|---|---|
| Gene | |
| Chromosome | 9 |
| Mutation | c.1360_1373dup |
| Mode of Inheritance | Autosomal Incomplete Dominant |
| Organ | |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
Informations générales
Glanzmann’s Thrombasthenia (GT) is a bleeding disorder caused by defective platelets, which can result in uncontrolled bleeding. This variant of the disease, Type I Glanzmann’s Thrombasthenia, is caused by a recessive mutation to the gene ITGA2B. It is observed in the Great Pyrenees. A related variant is found in the Scottish Deerhound.
Caractéristiques cliniques
Affected dogs are susceptible to excessive bleeding, such as nosebleeds or bleeding from the gums during tooth eruption. Blood analysis will show normal platelet counts but minimal platelet activity.
Additional Information
Références
Pubmed ID: 11105947
Year published: 2000
Omia ID: 1000
Omia variant ID: 369