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Thrombopathia is a group of bleeding disorders caused by defective platelets, which can result in uncontrolled bleeding.
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Specifications
| Breeds | |
|---|---|
| Gene | |
| Organ | |
| specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | |
| Chromosome | |
| Also known as | Calcium-Diacylglycerol Guanine Nucleotide Exchange Factor I (CalDAG-GEFI) |
| Year Published |
General information
Thrombopathia is a group of bleeding disorders caused by defective platelets, which can result in uncontrolled bleeding. This variant of the disorder, observed in the American Eskimo Dog, is caused by a recessive mutation to the gene RASGRP2 (sometimes called CalDAG-GEFI). Related variants have been observed in the Basset Hound and Landseer.
Clinical features
Affected dogs have an increased susceptibility to bleeding or bruising. This can include persistent nosebleeds, bleeding from the gums, excessive bleeding from nails clipped too close, and spontaneous development of hematomas (soft, blood-filled swellings under the skin).
Additional information
References
Pubmed ID: 17656327
Omia ID: 2433