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Thrombopathia (Platelet Dysfunction)

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Test Overview:

Also known as Thrombopathia a bleeding disorder where platelets are unable to adhere properly to one another leading to clot. Common symptoms include nose bleeds and excessive bleeding around the gums. dogs may also bruise easily (hematomas).

Category:

Haemolymphatic - Associated with the blood and lymph

Gene:

RAS guanyl releasing protein 1 (RASGRP1) on Chromosome 30

Variant Detected:

Eskimo Spitz: Nucleotide Insertion, c.452insA, p.Ser266Stop Basset Hound: Nucleotide Deletion, c.509-511delTCT, p.del170Phe

Severity:

Moderate. This disease can cause significant signs of discomfort and/or dysfunction in affected animals. It may involve relatively high treatment/management costs, and can sometimes reduce life expectancy.

Mode of Inheritance:

Autosomal Recessive

Research Citation(s):

Boudreaux MK, et al. Calcium-diacylglycerol guanine nucleotide exchange factor I gene mutations associated with loss of function in canine platelets. (2006) Trans Res, 150(2);81-92.

Associated Breed(s):

American Eskimo Dog, Basset Hound, Mixed Breed,

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