Classification of Glanzmann’s Thrombasthenia patients on flow cytometry

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Background: Glanzmann’s Thrombasthenia (GT) is an autosomal recessive platelet disorder caused by mutations in the ITGA2B and ITGB3 genes, leading to partial or complete deficiency of the GPIIb/IIIa (CD41/CD61) complex on platelets, causing a quantitative or qualitative defects of platelet fibrinogen receptors αIIbβ3 glycoprotein complex. This results in abnormal platelet aggregation, diminished clot retraction and mild to severe bleeding episodes. Affected individuals suffer from lifelong moderate to severe bleeding, mostly mucocutaneous in nature. The present study was designed to characterize GT subtypes through quantitative flow cytometry Material and Methods: A descriptive study was conducted on 46 GT patients attending Allama Iqbal medical college / Jinnah Hospital. After obtaining written informed consent, blood samples were taken, severity of bleeding was assessed by Glanzmann’s Thrombasthenia Italian Team protocol (GLATIT) and expression of platelet integrin was determined by quantitative flow cytometry. Results: On flow cytometry 20 patients were categorized as type І (43.5%), 07(15.2%) as type ІІ and 19(41.3%) as type ІІІ according to the level of receptor deficiency. Conclusion: Type І is the most common followed by type ІІІ then type ІІ. Most cases were severe bleeders followed by mild then moderate bleeders. Initial yet important account of clinical and phenotypic characterization of GT in local patients, which may spark further studies to help molecular diagnosis, optimal disease management and genetic counselling-based prevention efforts.

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