Trombastenia de glanzmann: Conceptos clave de la enfermedad

Translated title of the contribution: Glanzmann thrombasthenia: Key concepts of the disease

Lina María Martínez Sánchez, Dayana Andrea Quintero Moreno

    Research output: Contribution to journalArticlepeer-review

    Abstract

    Glanzmann’s thrombasthenia (GT) is an autosomal recessive disorder in which there is a severe reduction or absence of platelet aggregation. It is due to the qualitative or quantitative alterations of integrin α IIb or integrin β 3, encoded by the ITGA2B and ITGB3 genes and related to glycoprotein IIb / IIIa, which intervene in platelet activation. The highest incidence of GT has been reported in the Jewish-Iraqi population, but it has also been reported in Israel, Jordan, Saudi Arabia, Italy, and in smaller numbers in Gypsy and Pakistani families. Despite being uncommon, this disorder should be suspected in cases of severe spontaneous or trauma-induced bleeding disorders, ranging from gastrointestinal and mucocutaneous hemorrhages such as epistaxis and recurrent, difficult to manage gingival hemorrhages, which are potentially fatal and more than 75% of cases require blood or platelet transfusion. To confirm the diagnosis, the laboratory findings are characterized by prolonged bleeding times, decreased clot retraction and abnormal platelet aggregation responses to physiological stimuli. Although there is currently no cure for the disease, adequate treatments with platelet transfusions and in case of refractoriness, the use of factor VIIa, allow a good prognosis for patients. There is still much to study in these cases, because of this, new studies are being conducted for the possibility of other treatments, including platelet gene therapy.

    Translated title of the contributionGlanzmann thrombasthenia: Key concepts of the disease
    Original languageSpanish
    JournalRevista Cubana de Hematologia, Inmunologia y Hemoterapia
    Volume35
    Issue number2
    StatePublished - 1 Apr 2019

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