Hematologically important mutations: Glanzmann thrombasthenia

DL French, BS Coller - Blood Cells, Molecules, and Diseases, 1997 - Elsevier
Glanzmann thrombasthenia is an autosomal recessive bleeding disorder characterized by a
quantitative or qualitative abnormality of platelet GPIIb/IIIa receptors. This life-long bleeding
diathesis is characterized by mucocutaneous hemorrhage with easy bruising, menorrhagia,
epistaxis, gingival hemorrhage, and intermittent episodes of gastrointestinal bleeding. The
dysfunctional GPIIb/IIIa receptor can either be absent or present on the platelet surface, but
the platelets of all patients with Glanzmann thrombasthenia are functionally …