Glanzmann Thrombasthenia (ITGA2B)

Glanzmann thrombasthenia (ITGA2B-related) is an autosomal recessive disorder caused by pathogenic variants in the gene ITGA2B. The onset of symptoms is typically during infancy. This disorder is characterized by spontaneous mucocutaneous bleeding. This condition is found to be most prevalent in individuals of Romani ethnicity, particularly within the French Gypsy Manouche community. Additional clinical features may include abnormal bleeding, easy bruising, nosebleeds, bleeding from the gums, and/or heavy menstrual bleeding. Rarely internal bleeding and blood in the urine may occur. Affected women also have an increased risk of excessive blood loss during pregnancy and childbirth. Pathogenic variants in ITGA2B may also cause autosomal dominant platelet-type, bleeding disorder, 16. This disease is characterized by congenital macrothrombocytopenia and spontaneous bleeding starting in infancy. There is no clear genotype-phenotype correlation.

For information about carrier frequency and residual risk, please see the residual risk table.

This gene is included on the following panel(s):