Seyed Mehrab Safdari: Bridging the Molecular Diagnosis Gap in Inherited Platelet Disorders
Seyed Mehrab Safdari, Molecular Laboratory Technician at Tehran University of Medical Sciences, shared a post on LinkedIn ab0ut a recent article he and his colleagues co-authored, published in Thrombosis Journal, adding:
“I’m pleased to share one of our recent publications in Thrombosis Journal, in which I had the opportunity to contribute as the first author:
‘Molecular diagnosis of inherited platelet disorders: a tale of two realities – advanced vs. resource-limited setting.’
Inherited platelet disorders remain among the most challenging bleeding disorders to diagnose. While advances in next-generation sequencing and other molecular approaches have significantly improved diagnostic precision, access to these technologies remains highly unequal across healthcare settings.
In this review, we discuss current molecular diagnostic approaches for inherited platelet disorders, from Sanger sequencing and targeted gene panels to WES and WGS, while highlighting the continuing importance of platelet function testing and flow cytometry.
Working on this paper further strengthened my interest in platelet biology, molecular diagnostics, and inherited bleeding disorders.
I am especially grateful to my supervisor, Shadi Tabibian, for her valuable guidance and support throughout this work, and to all my co-authors for their contributions and collaboration.”
Title: Molecular diagnosis of inherited platelet disorders: a tale of two realities – advanced vs. resource-limited setting
Authors: Seyed Mehrab Safdari, Sina Jozdani, Mahsa Mottaghizadeh-Jazi, Maryam Shayanmanesh, Alireza Khanahmad, Mehdi Bakhtiyaridovvombaygi, Azadeh Rezazadeh, Shadi Tabibian
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