Neghina Adriana Maria, Anghel Andrei
Biochemistry Department, Victor Babes University of Medicine and Pharmacy, Timisoara, Romania.
Genet Test Mol Biomarkers. 2010 Dec;14(6):847-50. doi: 10.1089/gtmb.2010.0109. Epub 2010 Oct 28.
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.
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%).
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.
促进血色素沉着症基因（HFE）相关血色素沉着症（HFE-HH）早期诊断的公共卫生策略在很大程度上取决于人们对现有筛查测试的接受程度。本研究旨在评估罗马尼亚西部患者对HFE-HH的知晓情况及其对DNA检测的接受程度。
从罗马尼亚蒂米什瓦拉县急诊医院的门诊随机招募了221名参与者。他们收到了关于HFE-HH的简要信息，并接受了血色素沉着症体征和症状的评估。所有参与者都接受了HFE基因分型。只有两例（0.9%）之前了解HFE-HH。21例（9.5%）接受了基因检测。与检测接受度相关的特征为年龄<45岁、男性和教育程度。接受检测与想知道自己是否患有HFE-HH的意愿相关（85.7%）。最常见的拒绝原因是希望获得更多信息（41%）。
需要开展更大规模的教育项目以提高罗马尼亚西部民众对HFE-HH的认识。然而，在医疗环境中，疾病检测的重要性和患者的教育背景对于实现基因检测的高参与率似乎至关重要。
