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Thrombopathia (Newfoundland Type)

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Test Overview:

Thrombopathia (Newfoundland Type) is an inherited bleeding disorder affecting basset hounds. Platelets are blood cells that are responsible for the normal clotting of blood, therefore affected dogs have abnormal platelet function. In Thrombopathia (Newfoundland Type), platelets are unable to stick properly to each other, therefor they cannot clot normally, creating a risk for excessive and spontaneous bleeding to range from mild to severe. The most common symptoms in dogs with this disease are recurrent nose bleeds and excessive bleeding of the gums when a dog sheds its teeth or chews on hard objects. Affected dogs will also bruise easily and get blood filled masses (haematomas) under their skin (especially at the tips of the ears). Dogs may also have internal bleeding and bloody or dark tarry faeces. Additionally, affected dogs may show signs of lameness or stiffness if bleeding in the joints is present. Although dogs with this disorder are at risk for spontaneous hemorrhage and internal bleeding, dogs with this disease may not be identified until trauma or surgery, at which time excessive bleeding is visible and noted. Veterinarians performing surgery on known affected dogs should have ready access to blood for transfusions. Dogs can have a normal lifespan with this condition, however, they are susceptible to life-threatening bleeding with an accidental injury, trauma or surgical procedure.

Category:

Haemolymphatic - Associated with the blood and lymph

Gene:

RASGRP1

Variant Detected:

chr18:52419245: C>T

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

Recommended Screening:

Genetic testing of the RASGRP1 gene will reliably determine if a dog is a genetic carrier of Thrombopathia (Newfoundland type).

Research Citation(s):

Boudreaux MK, Catalfamo JL, Klok M. Calcium-diacylglycerol guanine nucleotide exchange factor I gene mutations associated with loss of function in canine platelets. Transl Res. 2007 Aug; 150(2):81-92. [PubMed: 17656327]

Associated Breed(s):

Newfoundland,
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