Dědičné trombocytopenie

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Title in English Inherited thrombocytopenias
Authors

PEŠOVÁ Michaela STAŇO KOZUBÍK Kateřina PÁL Karol ŠMÍDA Michal BALOUN Jiří RADOVÁ Lenka POSPÍŠILOVÁ Šárka DOUBEK Michael

Year of publication 2018
Type Article in Periodical
Magazine / Source Transfuze a Hematologie Dnes
MU Faculty or unit

Central European Institute of Technology

Citation
Web https://www.prolekare.cz/casopisy/transfuze-hematologie-dnes/2018-1/dedicne-trombocytopenie-63649
Keywords inherited thrombocytopenias; gene variants; next generation sequencing; megakaryopoiesis; thrombopoiesis
Description Inherited thrombocytopenias are a rare and heterogeneous group of diseases. In recent years, an exceedingly detailed diagnosis of thrombocytopenia has become possible thanks to developments in the methods of molecular biology. Using next-generation sequencing (NGS), many congenital variants in genes responsible for the development of this disease have been identified. Currently, dozens of genes are associated with the development of inherited thrombocytopenias. Causal variants are often family-specific. Identified causal variants usually lead to the malfunction (impairment) of production or structure and function of platelets (thrombocytes). The disease may manifest differently in individual patients. Bleeding due to low-platelet count is usually not present in many patients. However, some inherited thrombocytopenias are associated with additional acquired disorders, for example haematological malignancies. Correct diagnosis of thrombocytopenia is essential for specialized care, therapeutic approach and risk assessment to the offspring of affected patients. © 2018 Czech Medical Association J.E. Purkyne. All rights reserved.
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