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Glanzmann's Thrombasthenia (Great Pyrenees Type)

Glanzmann's Thrombasthenia (GT) (Great Pyrenees Type) is a genetic disorder in dogs characterized by impaired platelet function leading to abnormal bleeding.

Affected Genes: ITGA2B

Inheritance: Autosomal Recessive

Variant(canFam6):
chr9:18446827-18446840: 14 bp duplication GGTGCCACAGACAT

Breed: Great Pyrenees

General Information: Glanzmann's Thrombasthenia (GT) in Great Pyrenees dogs is an inherited condition that disrupts normal platelet function, crucial for blood clotting. Typically presenting between 3 and 6 months as puppies begin teething, affected dogs experience symptoms like bleeding gums, frequent nosebleeds, skin bruising, and prolonged bleeding from minor injuries or surgeries. While the condition generally carries a good prognosis with proper management, including iron supplementation to counteract potential anemia from chronic blood loss, affected dogs often remain smaller than their breed standard.

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 Great Pyrenees dogs targets the ITGA2B gene to identify carriers of this autosomal recessive trait. Dogs must inherit two copies of the mutated gene, one from each parent, to express the disease. Carriers, possessing only one copy, typically do not show symptoms but can pass the mutation to their offspring. Breeding two carriers results in a 25% chance of producing affected puppies and a 50% chance of producing another carrier. To prevent the transmission of this disorder and maintain the health of future generations, it is crucial for breeders to test potential breeding dogs and avoid mating carriers. By doing so, breeders can help eliminate this mutation from the gene pool, ensuring that non-carrier dogs do not pass on the defective gene.

References:
Boudreaux MK, Kvam K, Dillon, AR, Bourne C, Scott M, Schwartz KA, Toivio-Kinnucuan M. Type I Glanzmann’s thrombasthenia in a Great Pyrenees dog. Vet Pathol. 1996 33(5):503-511.

Lipscomb DL, Bourne C, Boudreaux MK. Two genetic defects in alphaIIb are associated with type I Glanzmann's thrombasthenia in a Great Pyrenees dog: a 14-base insertion in exon 13 and a splicing defect of intron 13. Vet Pathol. 2000 37(6):581-588.