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Thrombopathia, sometimes called Platelet Function Disorder, is a group of diseases that affect the platelet cells responsible for blood clotting, resulting in a risk of severe and uncontrolled bleeding.
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Caractéristiques
| Breeds | |
|---|---|
| Gene | |
| Chromosome | 18 |
| Mutation | c.509_511del |
| Mode of Inheritance | Autosomique récessif |
| Organ | |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Also known as | Calcium-Diacylglycerol Guanine Nucleotide Exchange Factor I (CalDAG-GEFI) |
Informations générales
Thrombopathia, sometimes called Platelet Function Disorder, is a group of diseases that affect the platelet cells responsible for blood clotting, resulting in a risk of severe and uncontrolled bleeding. This variant of the disorder, found in the Basset Hound, is caused by a recessive mutation to the gene RASGRP2. Closely related variants have been observed in the American Eskimo Dog and Landseer.
Caractéristiques cliniques
Affected dogs may present with severe and recurrent bleeding from the gums, episodes of lameness, or severe anemia. Blood analysis will confirm dramatically decreased platelet activity.
Additional Information
Références
Pubmed ID: 17656327
Year published: 2007
Omia ID: 2433
Omia variant ID: