Trombotické a aterogenní genetické predispozice u polyglobulických dárců krve a krevních složek

Abstract

The results of genetic haematological examinations are processed in this diploma thesis. The majority group of patiens consists of men. Examined patiens are predisposed to have atherosclerosis and venous theombosis, but do not show primary myeloproliferative diseases such as Polycytemia vera characterized by JAK V617F mutation. A homogeneous group of 199 individuals whose genetic testing was provided by the Nový Jičín Hospital is used for the analysis. The results of the work evaluate why a portion of the male population consistently produces high hemoglobin levels in their blood, without the diagnosis of myeloproliferative disease, and how the investigated parameters are atherogenic and thrombogenic in terms of heterozygosity and homozygosity or age. A data mining program Rapid Miner is used for data processing, enabling the creation of contingency matrices. The greatest contributions of the study are the groups of endothelial ischemia, cardiovascular thrombogenic dysfunction, metabolic homocysteine thrombogenic dysfunction, thrombogenesis and thrombolysis, and receptor endothelial thromboembolism. Predictive model of risk donor capture is described in this work, the model was created according to previously created classification and is based on a decision tree. Graphical user interface was also created in this work to simplify the interpretation of results.

Description

Subject(s)

Polycythemia vera, eNOS, JAK2, Decision Tree, Rapid Miner

Citation