Quantitative Immunophemotyping of Platelet Surface Glycoproteins among Iranian Patients with Bernard-Soulier Syndrome

Bernard-Soulier syndrome is a rare inherited bleeding disease caused by quantitative or qualitative defect of GPIb/IX/V, a platelet complex that binds the Von Willebrand factor. The expression of GPIb-IX-V complex can be evaluated by flow cytometry and confirmed by the absence of ristocetin-induced platelet aggregation in platelet-rich plasma. The main aim of the present study was to classify Iranian Bernard-Soulier syndrome patients by a flow cytometric method, and to evaluate the correlation between platelet immunophenotype and clinical findings among patients. Patients and The surface expression level of GPIb-IX-V on platelets was assessed in fifteen Bernard-Soulier syndrome patients, using a panel of antibodies using a quantitative flow cytometry method. The results of the physical examination, family history and clinical presentation were also recorded by a physician. The present study showed that all the patients suffer from a severe form of GPIb-IX-V complex deficiency. The study also found no correlation between the platelet surface glycoprotein expression and severity of bleeding among patients. Severe quantitative defect is the most common subtype among Iranian patients with Bernard-Soulier syndrome. Platelet Immunophenotyping alone does not determine the severity of hemorrhage in patients with Bernard-Soulier syndrome. Key words: Bernard Soulier Syndrome, GPIb-IX-V, flow cytometry, bleeding.