Abstract
GENETICS OF PLATELET DISORDERS
Platelet disorders encompass adiverse group of inherited and acquired conditions affecting platelet count,function, or structure, often leading to bleeding or clotting abnormalities.Inherited platelet disorders are predominantly caused by mutations in genesinvolved in platelet production, adhesion, aggregation, and signaling pathways.These mutations impact the function and integrity of platelet membraneglycoproteins, intracellular proteins, and the cytoskeleton, leading to variousclinical presentations ranging from mild mucocutaneous bleeding to se verehemorrhagic episodes. Diagnostic approaches for genetic platelet disordersenable the precise identification of mutations and protein deficiencies.Treatment strategies focus on managing bleeding risks through platelettransfusions, recombinant factor VIIa, and antifibrinolytic agents, with genetherapy and targeted treatments showing promise for the future. Understandingthe genetic basis of platelet disorders allows for improved diagnosis, patientmanagement, and genetic counselling, emphasizing the need for ongoing researchinto novel mutations and therapeutic options.