Glanzmann Thrombasthenia

Glanzmann Thrombasthenia is a rare inherited bleeding disorder that affects the blood's ability to clot properly. It involves the platelets, which are small cells in the blood responsible for stopping bleeding by clumping together at injury sites. In this condition, the platelets cannot stick to each other effectively, leading to problems with forming a stable blood clot. This causes symptoms like easy bruising, frequent nosebleeds, and prolonged bleeding from cuts or injuries. The disorder affects the circulatory system and can lead to significant bleeding complications, especially after surgery or trauma. It is caused by a defect in a specific protein on the platelet surface that is essential for platelet aggregation.

Glanzmann Thrombasthenia is an autosomal recessive platelet function disorder characterized by a deficiency or dysfunction of the platelet membrane glycoprotein complex GPIIb/IIIa (integrin αIIbβ3). This complex is crucial for platelet aggregation by binding fibrinogen and other adhesive proteins, facilitating platelet-platelet interaction. The condition results from mutations in the ITGA2B or ITGB3 genes encoding the αIIb and β3 subunits, respectively. Clinically, it presents with mucocutaneous bleeding, including petechiae, purpura, epistaxis, and menorrhagia. Laboratory findings show normal platelet count and morphology but absent platelet aggregation in response to all agonists except ristocetin. The disorder is significant due to its impact on hemostasis and the risk of severe bleeding episodes.