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Thrombopathia is a group of bleeding disorders caused by defective platelets, which can result in uncontrolled bleeding.
10 working days
Swab, Blood EDTA, Blood Heparin, Semen, Tissue
|Mode of Inheritance|
|Also known as||
Calcium-Diacylglycerol Guanine Nucleotide Exchange Factor I (CalDAG-GEFI)
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 Eskimo Spitz, 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.
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).
Pubmed ID: 17656327
Omia ID: 2433