Background: Glanzmann’sThrombasthenia (GT) is a rare autosomal recessive inherited platelet function disorder, which is characterized by decrease or absence of functional platelet αIIbβ3 or GPIIb/IIIa integrin receptors. The clinical presentation and bleeding tendencies in GT are variable.

Aims: Analysis of clinical spectrum of patients with GT and its correlation with the laboratory parameters.

Methods: Across sectional study of 19 patients diagnosed with GT in the Department of Haematology, from January 2014 to December 2019 was undertaken. A diagnosis of GT was confirmed by clinical history and laboratory investigations comprising of peripheral blood smear examination, coagulation screen, platelet aggregometry and flowcytometry.

Results: The median age our patients were 8 years (10 months-40 years). There was an unusual male preponderance with a male: female 13:6. Majority of patients presented with epistaxis, gum bleeding, ecchymosis and prolonged bleeding from trauma site. Platelet aggregation studies showed absent or decreased aggregation with ADP, Collagen, Arachdonic acid and Epinephrine in 100% of patients whereas 21% showed decreased aggregation with Ristocetin. Flowcytometric analysis showed absent expression of CD41 in all the cases analysed and normal expression of CD42b suggestive of GT. Eight of our patients required occasional transfusion of platelet rich plasma.

Conclusions: Basic haemostatic screening tests and platelet aggregometry are sufficient to establish the diagnosis in majority of the patients with GT, however more sophisticated tests like flowcytometry is required for confirmation of GT.

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ISTH Congress Abstracts - https://abstracts.isth.org/abstract/clinico-pathological-spectrum-of-glanzmannthrombasthenia/