Glanzmann’s Thrombasthenia (GT) 2 – Horse
Code: P392
Short description
Glanzmann's Thrombasthenia (GT) is a bleeding disorder caused by defective platelets, which results in an inability for blood to clot properly.
General information
Glanzmann’s Thrombasthenia (GT) is a bleeding disorder caused by defective platelets, which results in an inability for blood to clot properly. This variant of the disease, found in the Quarter Horse and Thoroughbred, is caused by a recessive mutation to the gene ITGA2B. A related variant is also found in the Quarter Horse, as well as the Peruvian Paso.
Specifications
| Breeds | |
|---|---|
| Gene | ITGA2B |
| Chromosome | 11 |
| Mutation | c.215G>C |
| Organ | Cardiovascular System |
| Specimen | Hair, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | Autosomal Recessive |
| Also known as | GT |
Clinical features
Clinical signs usually are characterised by bleeding of the skin, mucous membranes and gums, and may also include bruises, epistaxis (nosebleeds), and gastrointestinal hemorrhage.
References
Pubmed ID: 16407493
Year published: 2006
Omia ID: 1000
Omia variant ID:
Turnaround information
- 15 working days