Glanzmann's Thrombasthenia, Correlation by Flow, Platelet Aggregometry and Platelet Function Assay (PFA)

Glanzmann’s thrombasthenia (GT) is an inherited bleeding disorder which was described in 1918 by Dr. Glanzmann as bleeding tendency with normal platelet count and prolonged bleeding time; it was called hereditary hemorrhagic thrombasthenia 1,2 . It is an autosomal recessive bleeding disorder, which is common in consanguineous marriage due to mutation of platelet glycoprotein. Glycoprotein IIb/IIIa leads to loss of GP receptor function, detected as abnormality in platelet aggregation, adhesion and clot retraction. Patients present as epistaxis, menorrhagia, gum bleeding, bruises, ecchymosis and petechia. Laboratory investigations reveal normal platelet count, but abnormal clot retraction, high PFA, absent response to all agonists except ristocetin induced aggregation by platelet aggregometry and decreased or absent platelet glycoprotein by flow cytometry.