Characterization of Pathogenic Variants Associated with Hereditary Thrombocytopenias in Families from the Czech Republic

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F65269705%3A_____%2F19%3A00071824" target="_blank" >RIV/65269705:_____/19:00071824 - isvavai.cz</a>

Result on the web

<a href="https://ashpublications.org/blood/article/134/Supplement_1/2343/422894/Characterization-of-Pathogenic-Variants-Associated?searchresult=1" target="_blank" >https://ashpublications.org/blood/article/134/Supplement_1/2343/422894/Characterization-of-Pathogenic-Variants-Associated?searchresult=1</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.1182/blood-2019-122696" target="_blank" >10.1182/blood-2019-122696</a>

Result language

angličtina

Original language name

Characterization of Pathogenic Variants Associated with Hereditary Thrombocytopenias in Families from the Czech Republic

Original language description

Inherited thrombocytopenias (IT) are a heterogeneous group of 33 different forms of monogenic disorders caused by molecular defects affecting 40 genes at least. The pathogenic germline variants play an important role in the development and maintenance of hematopoietic system (megakaryopoesis and thrombopoesis). These changes lead to disruption of these processes and are presented as the thrombocytopenia phenotype (low platelet count, blood-examination). However, patients are occasionally misdiagnosed with the immune thrombocytopenia and unsuccessfully treated with steroid therapy and splenectomy. In some patients, accurate diagnosis of IT can only be established based on the results of molecular genetic testing. Furthermore, it has also been shown that some hematological conditions with Mendelian type of hereditability precede the development of hematooncological disease. The pathogenic variants were detected in unrelated affected families with macrothrombocytopenia, platelet-type bleeding disorders and hereditary erythrocytosis with megakaryocytic atypia, Sebastian syndrome, and ANKRD26-related thrombocytopenia. Moreover, the genetic variants predispose to myeloid malignancy were identified. Molecular genetic testing helped the clinicians to determine the correct diagnosis in these patients.

Czech name

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Czech description

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Type

O - Miscellaneous

CEP classification

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OECD FORD branch

30205 - Hematology

Project

Result was created during the realization of more than one project. More information in the Projects tab.

Continuities

P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)

Publication year

2019

Confidentiality

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů