Impact of hemochromatosis screening in patients with indeterminate results: The hemochromatosis and iron overload screening study
| Autor: | Andrea Ruggiero, Elizabeth J. Thomson, Ann P. Walker, Tara E Power, Lari Wenzel, Diane C. Tucker, Ronald T. Acton, Mark A. Hall, Joan Holup, Barbara Harrison, Catherine Leiendecker-Foster, Roger T. Anderson, Edmund G Howe, Paul C. Adams |
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| Rok vydání: | 2006 |
| Předmět: |
Adult
Male medicine.medical_specialty Iron Overload Quality of life Internal medicine Genotype Ethnicity medicine Humans Clinical significance Genetic Testing Genetics (clinical) Hemochromatosis Aged Genetic testing medicine.diagnostic_test biology Transferrin saturation business.industry Middle Aged medicine.disease Ferritin Social Class Mutation Quality of Life biology.protein Female Observational study business Attitude to Health |
| Zdroj: | Genetics in Medicine. 8:681-687 |
| ISSN: | 1098-3600 |
| Popis: | Purpose: Assess the quality of life impact of receiving indeterminate test results for hemochromatosis, a disorder involving HFE genetic mutations and/or elevated serum transferrin saturation and ferritin. Methods: The study sample was from the Hemochromatosis and Iron Overload Screening Study, a large observational study of hemochromatosis among primary care patients in the US and Canada using HFE genotype and serum transferrin saturation and ferritin screening. Study subjects included 2,304 patients found with hemochromatosis risk of uncertain clinical significance. Assessed was SF-36 general health and emotional well-being before screening and six weeks after participants received their test results. Health worries were assessed after screening. Results: Of the study subjects, 1,268 participants (51.5%) completed both assessments. Compared to normal controls, those with HFE mutations or elevated serum transferrin saturation and ferritin levels of uncertain significance were more likely to report diminished general health and mental well-being, and more health worries. These effects were associated with participants' belief of having tested positive for hemochromatosis or iron overload. Conclusion: Notification of indeterminate results from screening may be associated with mild negative effects on well-being, and might be a potential participant risk in screening programs for disorders with uncertain genotype-phenotype. |
| Databáze: | OpenAIRE |
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