Trastornos plaquetarios hereditarios poco frecuentes: Patología molecular y aspectos diagnósticos

Lina María Martínez Sánchez, Alejandro Hernández Martínez, Alejandro Arango Martínez

    Producción científica: Contribución a una revistaArtículo en revista científica indexadarevisión exhaustiva


    Introduction: Platelets have a key role in primary hemostasis through four main mechanisms: adhesion, aggregation, secretion and procoagulant activity, all of these controlled by over 50 associated genes that have been identified. Clinical signs of hereditary platelets alterations are usually variable; even though these disorders of hemostasis generally course with a notorious thrombocytopenia, they also might have thrombocytopathies, in which the hemostatic capacity of platelets is affected without altering its number. According to this, there’s a great variety of phenotypic manifestations and mutations that affect platelet function, some of these will be explained later on. Objective: To make a practical review of hereditary platelets mutations that have low incidence in population and to highlight the importance of knowing about them, how to diagnose them and early treatment. Methods: A review of literature in both Spanish and English, was done based on MEDLINE, EMBASE, Lilacs and ScienceDirect, during May 2019 and April 2020 using key words and MeSH terms such as thrombasthenia, medical genetics, hemostasis, platelets aggregation, thromopoiesis. Then, an analysis and summary of the reviewed bibliography was carried out. Conclusion: Among the hereditary alterations of platelets, many defects can be found in every mechanism involved; however, diagnostic confirmation is still complicated due to time and cost, causing inaccurate diagnoses that impact on clinic management and evolution.

    Título traducido de la contribuciónInfrequent hereditary platelets disorders: Molecular pathology and diagnostic aspects
    Idioma originalEspañol
    Número de artículoe1230
    PublicaciónRevista Cubana de Hematologia, Inmunologia y Hemoterapia
    EstadoPublicada - 2021

    Nota bibliográfica

    Publisher Copyright:
    © 2021, Editorial Ciencias Medicas. All rights reserved.

    Palabras clave

    • Hemostasis
    • Medical genetics
    • Platelet aggregation
    • Thrombasthenia
    • Thrombopoiesis

    Tipos de Productos Minciencias

    • Artículos de investigación con calidad Q4


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