Glanzmann thrombasthenia / GT-2 (ITGA2B-related) - Horse

What does this test examine?

This genetic test examines the ITGA2B c.215G>C variant, also known as GTe2, in horses. The condition is described as Glanzmann thrombasthenia, GT, GT-2 and inherited platelet function disorder.

What does this mean for the horse?

ITGA2B encodes part of the platelet receptor needed for normal platelet aggregation. Horses with two copies of this variant produce platelets that do not clump together properly. As a result, wounds can bleed longer and spontaneous or unexpectedly severe bleeding can occur, including nosebleeds, mucosal bleeding or prolonged bleeding after an injury or procedure.

Practical value of this test

• The test distinguishes clear horses, carriers and genetically affected horses for the GTe2 variant.
• Breeders can avoid carrier-to-carrier matings and manage bleeding risk in the line deliberately.
• In bleeding problems, the result provides clear genetic context for GT-2.

Inheritance

GT-2 caused by this ITGA2B variant is inherited as an autosomal recessive trait. Carriers have one copy and can pass the variant on; horses with two copies develop the genetic presentation of Glanzmann thrombasthenia type 2.