Flowcytometry immunophenotypic characterization of platelet function disorders in clinically suspected patients: A tertiary center experience

Objective: To carry out the flowcytometry based immunophenotypic characterization of platelet function disorders in clinically suspected patients at a reference laboratory. Material and Methods: A descriptive cross-sectional study, conducted at Immunology Department, Armed Forces Institute of Pathology (AFIP) / National University of Medical Sciences (NUMS) from May 2019 to March 2023. A total of 308 patients suspected of PFDs were analyzed using CD41, CD61, CD42a and CD42b on BD FACS Canto II flow cytometer. Results: Out of 308 suspected patients, 104 (34%) were positive for platelet disorders. Total 30 were positive for GT and 74 were positive for BSS. Out of these patients, 35 females were positive for BSS and 14 were positive for GT. In males, 39 were positive for BSS and 26 for GT. Highest number of positive patients were found to be among age group from new born to 20 years. Conclusion: Flowcytometry based assessment of abnormalities in glycoproteins on platelets is an important diagnostic modality. Bernard Soulier Syndrome (BSS) and Glanzmann Thrombasthenia (GT) are autosomal recessive hereditary diseases. These diseases are more prevalent in countries where consanguineous marriages are common. Genetic counselling of such families is essential and prenatal diagnosis will be helpful. Keywords: Bernard Soulier syndrome, Consanguinity, Flowcytometry, Glanzmann thrombasthenia, Platelet function disorders