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Glanzmann Thrombasthenia Type I

Breeds

Relevance Rating: Unknown, not evaluated or no evidence for test for these breeds

General

Disease Name
Glanzmann Thrombasthenia Type I
Mutation
c.1373 ins14bp
Mutation 2
c.1193G>C
Test Type
Genetic Disease/Disorder
Details
Glanzmann Thrombasthenia Great Pyrenees type (GT) is a form of thrombasthenia, a bleeding disorder caused by a disfunction in blood clotting. GT can be divided into three groups, type I, type II and variant GT. Type I is "severe", Type II "moderate" and variant being relatively normal, but with reduced function in clotting. Symptoms can include: prolonged bleeding time, severe bruising, red or purple spots under the skin, nose bleeds, bleeding gums, and pin-prick blood spots on the abdomen. Age of initial onset, from birth. Affected dog appears to be smaller than breed average. The dog will have also prolonged clotting times post-operatively.
Details 2
Glanzmann Thrombasthenia Great Pyrenees type (GT) is a form of thrombasthenia, a bleeding disorder caused by a disfunction in blood clotting. GT can be divided into three groups, type I, type II and variant GT. Type I is characterized by severe quantitative deficiency, type II by moderate quantitative deficiency and variant by relatively normal quantity but reduced function.The disorder in dogs is characterized by prolonged bleeding time and formation of hematomas at sites of injury. Other manifestation of the disease includes purpura, epistaxis, gingival hemorrhae, petechial hemorrhages on buccal mucosa and sporadically on the abdomen. Epistaxis and melena are common among affected dogs. Age of initial onset, from birth. Affected dog appears to be smaller than breed average. The dog will have also prolonged clotting times post-operatively.
Published
Lipscomb, D.L., Bourne, C., Boudreaux, M.K. : Two genetic defects in alpha(IIb) 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 Veterinary Pathology 37:581-588, 2000. Pubmed reference: 11105947.
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