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Hereditary Hemochromatosis: Awareness and Genetic Testing Acceptability in Western Romania

机译:遗传性血色素沉着症:意识和遗传在罗马尼亚西部测试可接受性

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Aims: A public health strategy to promote early diagnosis of hemochromatosis gene (HFE)-related hemochromatosis (HFE-HH) largely depends on people's acceptance of available screening tests. The present study aimed at evaluating patient awareness of HFE-HH and their acceptance of DNA testing in western Romania. Results: A total of 221 participants were randomly recruited from the ambulatory unit of the Emergency County Hospital in Timisoara, Romania. They received brief information on HFE-HH and were assessed for the signs and symptoms of hemochromatosis. HFE genotyping was offered to all of them. Only two cases (0.9%) had previous knowledge of HFE-HH. Twenty-one cases (9.5%) underwent genetic testing. Characteristics associated with test acceptance were age <45 years, male gender, and educational attainment. Acceptance was associated with a desire to know if they had HFE-HH (85.7%). The most prevalent refusal reason was a desire for more information (41%). Conclusions: Larger educational programs are required to increase people's awareness about HFE-HH in western Romania. Nevertheless, within health care settings, the importance of disease detection and patient's educational background appear to be essential for achieving high rates of participation in the genetic test.
机译:目的:促进早期的公共卫生策略血色沉着病基因(HFE) -相关的诊断血色沉着病(HFE-HH)很大程度上取决于人民接受筛查。本研究旨在评估病人HFE-HH意识及其接受的DNA测试在罗马尼亚西部。221名参与者被随机招募的动态单元紧急县医院在蒂米什瓦拉,罗马尼亚。HFE-HH和评估的信息血色沉着病的症状和体征。基因分型是提供给所有的人。例(0.9%)以前HFE-HH的知识。21例(9.5%)接受了基因测试。验收是< 45岁,男性,年龄受教育程度。想知道如果他们HFE-HH(85.7%)。最普遍的拒绝原因是欲望更多信息(41%)。教育项目需要增加关于HFE-HH在西方人们的意识罗马尼亚。设置、疾病检测的重要性病人的教育背景似乎基本实现高参与基因测试。

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