Problems related to counseling in genetic thrombophilias. 2002

Daniela Turchetti, and Giovanni Romeo
Cattedra di Genetica Medica, Università di Bologna, Italy. danielat@med.unibo.it

Venous Thrombosis is a major cause of mortality and morbidity in Western populations and in 30% of cases is associated to genetic susceptibility. Ideally, the identification of carriers of such susceptibility, known as thrombophilia, may allow for predicting the likelihood of recurrence in symptomatic patients and the risk of thrombosis in their relatives, leading to tailored plans of therapy and prophylaxis. In practice, this is greatly complicated by the high heterogeneity of both genotype and phenotype of inherited thrombophilia and by the lack of evidence-based guidelines for managing carriers. These issues and their impact on the process of genetic counseling for individuals suspected to have an inherited thrombophilia are discussed.

UI MeSH Term Description Entries
D005820 Genetic Testing Detection of a MUTATION; GENOTYPE; KARYOTYPE; or specific ALLELES associated with genetic traits, heritable diseases, or predisposition to a disease, or that may lead to the disease in descendants. It includes prenatal genetic testing. Genetic Predisposition Testing,Genetic Screening,Predictive Genetic Testing,Predictive Testing, Genetic,Testing, Genetic Predisposition,Genetic Predictive Testing,Genetic Screenings,Genetic Testing, Predictive,Predisposition Testing, Genetic,Screening, Genetic,Screenings, Genetic,Testing, Genetic,Testing, Genetic Predictive,Testing, Predictive Genetic
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D012307 Risk Factors An aspect of personal behavior or lifestyle, environmental exposure, inborn or inherited characteristic, which, based on epidemiological evidence, is known to be associated with a health-related condition considered important to prevent. Health Correlates,Risk Factor Scores,Risk Scores,Social Risk Factors,Population at Risk,Populations at Risk,Correlates, Health,Factor, Risk,Factor, Social Risk,Factors, Social Risk,Risk Factor,Risk Factor Score,Risk Factor, Social,Risk Factors, Social,Risk Score,Score, Risk,Score, Risk Factor,Social Risk Factor
D019851 Thrombophilia A disorder of HEMOSTASIS in which there is a tendency for the occurrence of THROMBOSIS. Hypercoagulability,Hypercoagulabilities,Thrombophilias

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