Glanzmann thrombasthenia

Disease Overview

Glanzmann thrombasthenia (GT) is a rare inherited blood clotting disorder that is present at birth. It is characterized by the impaired function of specialized blood cells, called platelets, that are essential for proper blood clotting. Signs and symptoms vary greatly from person to person. Symptoms usually include abnormal bleeding, which can be severe. Other symptoms may include easy bruising, nose bleeds, bleeding from the gums, and/or heavy menstrual bleeding. Rarely, internal bleeding and blood in the urine (hematuria) can occur. Prolonged untreated or unsuccessfully treated bleeding may be life threatening. This condition is inherited in an autosomal recessive fashion and is caused by mutations in either the ITGA2B or ITGB3 genes.[4329]

Synonyms

• Thrombasthenia of Glanzmann and Naegeli
• GT
• Platelet fibrinogen receptor, deficiency of
• Platelet glycoprotein 2B 3A deficiency
• Deficiency of GP 2B 3A complex
• Glanzmann thrombasthenia type A
• Diacyclothrombopathia 2B 3A