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Glanzmann's Thrombasthenia (Great Pyrenees Type)

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Test Overview:

Glanzmann's Thrombasthenia (Great Pyrenees type) affects dogs and is an inherited bleeding disorder, where affected dogs have abnormal platelet activity. Platelets are necessary blood cells that are required for the regular clotting of blood. Dogs who are affected by this disorder usually present within 3 to 6 months old, with bleeding gums due to their permanent teeth erupting. Dogs often have recurrent nose bleeds until around 2 years old. Dogs may also have skin bruises and prolonged bleeding after trauma, surgery or when in heat. The prognosis for affected dogs is good, but the dogs are usually smaller than normal for their breeds and must receive iron supplements to prevent the deficiency that can occur from their excessive bleeding.

Category:

Haemolymphatic - Associated with the blood and lymph

Gene:

ITGA2B

Variant Detected:

chr9:19057144-19057157 (canFam3): 14 bp duplication (dup GGTGCCACAGACAT)

Severity:

Low-Moderate. This disease can cause some discomfort and/or dysfunction in the affected animal. It does not generally affect life expectancy.

Mode of Inheritance:

Autosomal Recessive

Recommended Screening:

Genetic testing of the ITGA2B gene will reliably determine if a dog is a genetic carrier of Glanzmann’s thrombasthenia (great Pyrenees type).

Research Citation(s):

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 Sept; 33(5):503-511. [PubMed: 8885176] 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 Nov; 37(6):581-8. [PubMed: 11105947]

Associated Breed(s):

Great Pyrenees, Mixed Breed,

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