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Thrombopathia (Newfoundland Type)

Thrombopathia (TBP) (Newfoundland Type) is an inherited blood clotting disorder in Newfoundland dogs, characterized by defective platelet function leading to excessive and spontaneous bleeding.

Affected Genes: RASGRP1

Inheritance: Autosomal Recessive

Variant(canFam6):
chr18:51026572: C>T

Breed: Landseer Newfoundland
Newfoundland
Newfypoo

General Information: Thrombopathia (TBP) in Newfoundland dogs results from a genetic defect that impairs the normal clotting function of platelets. Affected dogs exhibit a range of symptoms from recurrent nosebleeds to excessive bleeding from the gums, particularly noticeable when puppies shed their teeth or chew on hard objects. These dogs are prone to easy bruising, development of hematomas under the skin or within muscles from minor traumas, and may exhibit internal bleeding that manifests as bloody or dark tarry feces. Lameness or stiffness can also occur due to bleeding into the joints. The risk of spontaneous hemorrhages and complications from routine surgeries poses significant health threats, although with careful management, affected dogs can live normal lifespans.

How to Read Your Dog's Test Results for this Genetic Variant:

Two Variants Detected: Dog Likely Affected

One Variant Detected: Dog Unlikely Affected

No Variants Detected: No Effect

Gene / Testing Information: Genetic testing for the RASGRP1 gene mutation is essential to identify carriers of Thrombopathia (TBP) (Newfoundland Type), which is inherited in an autosomal recessive manner. Dogs must inherit two copies of the mutated gene, one from each parent, to express the disease. Carriers, possessing one copy of the mutated gene, do not show symptoms but can pass the mutation on to their offspring. Breeding two carriers leads to a 25% chance of producing affected offspring and a 50% chance of producing another carrier. To avoid the birth of affected puppies and manage the genetic health of the breed, breeding between known carriers should be avoided. Genetic testing before breeding is crucial to making informed decisions that help eliminate this mutation from the gene pool, ensuring healthier future generations.

References:
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 150(2):81-92.