Glanzmann's Thrombasthenia (Otterhound Type)
Affected Genes: ITGA2B
Inheritance: Autosomal Recessive
Variant(canFam6):
chr9:18444170: G>C
Breed: Otterhound
General Information: Glanzmann's Thrombasthenia (GT) in Otterhounds is an inherited condition marked by defective platelet function, leading to severe bleeding tendencies. Symptoms often manifest before the dog reaches one year of age, typically observed as bleeding gums during tooth eruption, frequent nosebleeds, and visible bruising on the skin. Other serious symptoms include hematuria and melena, indicating internal bleeding, and notably prolonged bleeding after any surgical procedure or injury. The disorder poses significant risks during routine veterinary procedures and can drastically affect the dog’s quality of life.
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 (GT) in Otterhounds focuses on the ITGA2B gene to determine if a dog carries this autosomal recessive trait. A dog must inherit two defective copies of the gene, one from each parent, to exhibit symptoms of the disease. Carriers, with only one copy of the mutated gene, typically show no symptoms but can pass the mutation to their offspring. When two carriers are bred, there is a 25% chance their puppies will inherit the disorder and a 50% chance they will be carriers. Breeders are strongly advised to use genetic testing to identify carriers to prevent mating that could produce affected offspring, aiming to eradicate this harmful mutation from the Otterhound population. Non-carrier dogs are at no risk of producing affected offspring.
References:
Boudreaux MK, Catalfamo JL. Molecular and genetic basis for thrombasthenic thrombopathia in Otterhounds. Am J Vet Res. 2001 62(11):1797-1804.