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

Background: 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 methods: 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. result: 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. conclusion: 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.