Inherited disorders of platelet function and challenges to diagnosis of mucocutaneous bleeding

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dc.contributor.authorIsraels, S. J.
dc.contributor.authorEl-Ekiaby, M.
dc.contributor.authorQuiroga, T.
dc.contributor.authorMezzano, D.
dc.date.accessioned2025-01-21T00:05:30Z
dc.date.available2025-01-21T00:05:30Z
dc.date.issued2010
dc.description.abstractPlatelets play a pivotal role in the arrest of bleeding at sites of vascular injury. Following endothelial damage, they respond rapidly by adhesion to subendothelial matrix proteins resulting in platelet activation, spreading, aggregation, secretion and recruitment of additional platelets to form the primary haemostatic plug. This mass provides a surface for thrombin generation and fibrin mesh formation that stabilizes the clot. Careful study of patients with inherited platelet disorders and, subsequently, of informative animal models, has identified structural platelet abnormalities that have enhanced our understanding of platelet function. The investigations of rare, but severe, inherited platelet disorders have led us to the discovery of causative molecular defects. One of the most informative is the rare autosomal recessive disorder Glanzmann thrombasthenia, caused by defect or deficiency in the platelet integrin alpha IIb beta 3, resulting in absent platelet aggregation and a significant clinical bleeding diathesis. Our new challenge is to understand the mechanisms underlying more common, but less well-defined, mucocutaneous bleeding (MCB) disorders. Present diagnostic testing for platelet function disorders and von Willebrand's Disease often fails to identify the cause of bleeding in individuals with inherited MCB.
dc.fuente.origenWOS
dc.identifier.eissn1365-2516
dc.identifier.issn1351-8216
dc.identifier.urihttps://repositorio.uc.cl/handle/11534/95550
dc.identifier.wosidWOS:000279076100027
dc.language.isoen
dc.pagina.final159
dc.pagina.inicio152
dc.revistaHaemophilia
dc.rightsacceso restringido
dc.subjectGlanzmann thrombasthenia
dc.subjecthaemostasis
dc.subjectmucocutaneous bleeding
dc.subjectplatelet disorders
dc.subjectplatelet function tests
dc.subject.ods03 Good Health and Well-being
dc.subject.odspa03 Salud y bienestar
dc.titleInherited disorders of platelet function and challenges to diagnosis of mucocutaneous bleeding
dc.typeartículo
dc.volumen16
sipa.indexWOS
sipa.trazabilidadWOS;2025-01-12
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