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Glanzmann thrombasthenia (GT)

General description

Glanzmann’s Thrombasthenia is a bleeding disorder that occurs in two different types. Symptomatically GT shows in form of bleeding diathesis and continuous gingival bleeding after shedding of deciduous teeth. Continuous epistaxis can also be an indication for this disorder.

Breeds

Pyrenean Mountain Dog

Order details
Test number8077
AbbreviationGT
Sample material0.5 ml EDTA blood, 2x cheek swab, 1x special swab (eNAT)
Test duration7-14 working days
Test specifications
Symptom complexhematologic
Inheritanceautosomal recessive
Causalitycausally
GeneITGA2B
MutationDEL
LiteratureOMIA:001000-9615
Detailed description

Glanzmann thrombasthenia (GT) is a blood clotting disorder that occurs in two different forms. They differ in the amount of certain glycoproteins (αIIbβ3) embedded in the cell membrane of thrombocytes, which are necessary for clotting.

In the more severe type I GT, detected by this test, the value is less than 5% of normal. A variant in the αIIb gene disrupts the formation of a major component of these glycoproteins. Symptomatically, the bleeding tendency usually becomes apparent through continuous bleeding of the gums after the loss of the milk teeth. Persistent nosebleeds can also be an indication of this disorder.