Thrombopathia (Basset Hound Type)
Affected Genes: RASGRP1
Inheritance: Autosomal Recessive
Variant(canFam6):
chr18:51024637: C>CCTTC
Breed: Basset Hound
General Information: Thrombopathia (TBP) in Basset Hounds is marked by a critical defect in platelets that prevents normal blood clot formation, leading to excessive bleeding. Symptoms can range from mild to severe and typically include recurrent nosebleeds, excessive bleeding from the gums particularly during teething or after chewing hard objects, and easy bruising. Dogs with this condition also frequently develop hematomas, or blood-filled masses, especially noticeable at the tips of their floppy ears. Internal bleeding may manifest as bloody or dark tarry feces, and if bleeding occurs in the joints, it can lead to lameness or stiffness. While these dogs are at constant risk of life-threatening hemorrhage, especially during surgical procedures, they may otherwise lead normal lives if managed carefully to minimize incidents that could trigger severe bleeding.
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 vital for identifying carriers of Thrombopathia (TBP) (Basset Hound Type), which is inherited in an autosomal recessive manner. This means that a dog needs to inherit two copies of the mutated gene, one from each parent, to exhibit the disease. Carrier dogs, which have one copy of the mutation, typically do not show any symptoms but can pass on the gene to their offspring. Breeding two carriers results in a 25% chance of producing affected puppies and a 50% chance of producing carriers. To prevent the propagation of this condition, responsible breeding practices are essential, including avoiding the mating of known carriers. Through reliable genetic testing and careful selection of breeding pairs, breeders can work towards eliminating this mutation from the Basset Hound population, thereby reducing the incidence of this bleeding disorder.
References:
Johnstone IB, Lotz F: An inherited platelet function defect in Basset hounds. Can Vet J 20:211-215, 1979. Catalfamo JL, Raymond SL, White JG, Dodds WJ: Defective platelet-fibrinogen interaction in hereditary canine thrombopathia. Blood 1986 67:1568-1577.