Glanzmann's Thrombasthenia (Mixed breed)
Affected Genes: ITGA2B
Inheritance: Autosomal recessive
Variant(canFam6):
chr9:18446826: A>G
Breed: multiple breeds
General Information: Glanzmann's Thrombasthenia (Mixed breed) is an inherited bleeding disorder in dogs characterized by the lack of proper blood clotting due to dysfunctional or deficient platelet receptors. Dogs with two copies of the associated gene mutation are predisposed to this condition, which can manifest at any age. Symptoms include prolonged bleeding from minor wounds, spontaneous nosebleeds, blood in the urine or stool, and excessive bruising. In severe cases, affected dogs may experience life-threatening hemorrhages. While not all dogs with the mutation will show severe symptoms, they will have an increased tendency to bleed. Managing this condition involves avoiding injuries, monitoring for signs of bleeding, and providing supportive care as necessary.
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 Glanzmann's Thrombasthenia can determine if a dog is a carrier of this condition. This disorder is inherited in an autosomal recessive manner, meaning that dogs must inherit two copies of the mutated gene, one from each parent, to develop the disease. Carrier dogs, possessing only one copy of the mutation, typically do not show symptoms but can pass the gene to their offspring. When two carriers are bred, each pup has a 25% chance of developing the disease and a 50% chance of being a carrier. Reliable genetic testing is crucial for informed breeding practices to eliminate this mutation from breeding lines, and breeding two carriers together is not recommended to avoid producing affected pups. Dogs that are not carriers have no increased risk of having affected offspring.
References:
Haysom LZ, Kennerly RM, Müller RD, Smith-Carr S, Christopherson PW, and Boudreaux