prikaz prve stranice dokumenta Genetic testing of inherited thrombophilia
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master's thesis
Genetic testing of inherited thrombophilia
Rijeka: University of Rijeka, Faculty of Medicine, 2024. urn:nbn:hr:184:261911
Risch, Teresa Laura
University of Rijeka
Faculty of Medicine

Institutional repository: Repository of the University of Rijeka, Faculty of Medicine

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Risch, T. L. (2024). Genetic testing of inherited thrombophilia (Master's thesis). Rijeka: University of Rijeka, Faculty of Medicine. Retrieved from https://urn.nsk.hr/urn:nbn:hr:184:261911

Risch, Teresa Laura. "Genetic testing of inherited thrombophilia." Master's thesis, University of Rijeka, Faculty of Medicine, 2024. https://urn.nsk.hr/urn:nbn:hr:184:261911

Risch, Teresa Laura. "Genetic testing of inherited thrombophilia." Master's thesis, University of Rijeka, Faculty of Medicine, 2024. https://urn.nsk.hr/urn:nbn:hr:184:261911

Risch, T. L. (2024). 'Genetic testing of inherited thrombophilia', Master's thesis, University of Rijeka, Faculty of Medicine, accessed 26 November 2024, https://urn.nsk.hr/urn:nbn:hr:184:261911

Risch TL. Genetic testing of inherited thrombophilia [Master's thesis]. Rijeka: University of Rijeka, Faculty of Medicine; 2024 [cited 2024 November 26] Available at: https://urn.nsk.hr/urn:nbn:hr:184:261911

T. L. Risch, "Genetic testing of inherited thrombophilia", Master's thesis, University of Rijeka, Faculty of Medicine, Rijeka, 2024. Available at: https://urn.nsk.hr/urn:nbn:hr:184:261911

Metadata
TitleGenetic testing of inherited thrombophilia
AuthorTeresa Laura Risch
MentorSanja Dević Pavlić (mentor)
Committee memberNina Pereza (predsjednik povjerenstva)
Committee memberSaša Ostojić (član povjerenstva)
Committee memberNada Starčević Čizmarević (član povjerenstva)
GranterUniversity of Rijeka
Faculty of Medicine
Rijeka
Defense date and country2024, Croatia
Scientific / art field,
discipline and subdiscipline		BIOMEDICINE AND HEALTHCARE
Clinical Medical Sciences
Abstract
Inherited thrombophilia refers to a genetic predisposition to thrombosis. Genetic testing identifies at-risk individuals and supports clinical decisions. Key mutations are associated with various thrombophilias, guiding molecular genetic testing approaches such as PCR and Sanger sequencing. In Factor V Leiden (FVL), a mutation in the F5 gene causes resistance to APC, increasing the procoagulant state. The Prothrombin G20210A mutation in the F2 gene raises prothrombin levels, a key protein in coagulation. Deficiencies in Protein C, Protein S, and Antithrombin III, though less common, impair natural anticoagulant pathways and can cause severe conditions in homozygotes. Indications for genetic testing vary by scenario, essential for personalized patient care. Benefits must be balanced against limitations like psychological impact, cost, ethical issues, and privacy concerns. Testing should follow scientific guidelines and involve genetic counseling for informed decision-making and proper use of genetic information.
Keywords
Languageenglish
URN:NBNurn:nbn:hr:184:261911
Study programmeTitle: Medicine
Study programme type: university
Study level: integrated undergraduate and graduate
Academic / professional title: doktor/doktorica medicine (doktor/doktorica medicine)
Type of resourceText
File originBorn digital
Access conditionsOpen access
Terms of useLicence In copyright icon
Created on2024-06-26 16:22:38