Hereditary hemochromatosis: awareness and genetic testing acceptability in Western Romania

• Published in: Genetic testing and molecular biomarkers Vol. 14; no. 6; p. 847
• Main Authors: Neghina, Adriana Maria, Anghel, Andrei
• Format: Journal Article
• Language: English
• Published: United States 01-12-2010
• Subjects: Female; Genetic Testing - psychology; Health Knowledge, Attitudes, Practice; Hemochromatosis - diagnosis; Hemochromatosis - epidemiology; Hemochromatosis - genetics; Hemochromatosis Protein; Histocompatibility Antigens Class I - genetics; Humans; Male; Membrane Proteins - genetics; Middle Aged; Mutation; Romania - epidemiology
• ISSN: 1945-0257
• DOI: 10.1089/gtmb.2010.0109

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.