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Screening and diagnosis of inherited platelet disorders.
Bourguignon, Alex; Tasneem, Subia; Hayward, Catherine P.
Afiliación
  • Bourguignon A; Department of Pathology and Molecular Medicine, McMaster University, Hamilton, Canada.
  • Tasneem S; Department of Pathology and Molecular Medicine, McMaster University, Hamilton, Canada.
  • Hayward CP; Department of Pathology and Molecular Medicine, McMaster University, Hamilton, Canada.
Crit Rev Clin Lab Sci ; 59(6): 405-444, 2022 09.
Article en En | MEDLINE | ID: mdl-35341454
Inherited platelet disorders are important conditions that often manifest with bleeding. These disorders have heterogeneous underlying pathologies. Some are syndromic disorders with non-blood phenotypic features, and others are associated with an increased predisposition to developing myelodysplasia and leukemia. Platelet disorders can present with thrombocytopenia, defects in platelet function, or both. As the underlying pathogenesis of inherited thrombocytopenias and platelet function disorders are quite diverse, their evaluation requires a thorough clinical assessment and specialized diagnostic tests, that often challenge diagnostic laboratories. At present, many of the commonly encountered, non-syndromic platelet disorders do not have a defined molecular cause. Nonetheless, significant progress has been made over the past few decades to improve the diagnostic evaluation of inherited platelet disorders, from the assessment of the bleeding history to improved standardization of light transmission aggregometry, which remains a "gold standard" test of platelet function. Some platelet disorder test findings are highly predictive of a bleeding disorder and some show association to symptoms of prolonged bleeding, surgical bleeding, and wound healing problems. Multiple assays can be required to diagnose common and rare platelet disorders, each requiring control of preanalytical, analytical, and post-analytical variables. The laboratory investigations of platelet disorders include evaluations of platelet counts, size, and morphology by light microscopy; assessments for aggregation defects; tests for dense granule deficiency; analyses of granule constituents and their release; platelet protein analysis by immunofluorescent staining or flow cytometry; tests of platelet procoagulant function; evaluations of platelet ultrastructure; high-throughput sequencing and other molecular diagnostic tests. The focus of this article is to review current methods for the diagnostic assessment of platelet function, with a focus on contemporary, best diagnostic laboratory practices, and relationships between clinical and laboratory findings.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Trastornos de las Plaquetas Sanguíneas Tipo de estudio: Diagnostic_studies / Prognostic_studies / Screening_studies Límite: Humans Idioma: En Revista: Crit Rev Clin Lab Sci Asunto de la revista: TECNICAS E PROCEDIMENTOS DE LABORATORIO Año: 2022 Tipo del documento: Article País de afiliación: Canadá Pais de publicación: Reino Unido

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Trastornos de las Plaquetas Sanguíneas Tipo de estudio: Diagnostic_studies / Prognostic_studies / Screening_studies Límite: Humans Idioma: En Revista: Crit Rev Clin Lab Sci Asunto de la revista: TECNICAS E PROCEDIMENTOS DE LABORATORIO Año: 2022 Tipo del documento: Article País de afiliación: Canadá Pais de publicación: Reino Unido