Asymptomatic individuals at genetic risk of haemochromatosis take appropriate steps to prevent disease related to iron overload.

摘要

BACKGROUND/AIMS: If community screening for hereditary haemochromatosis is to be considered, compliance with preventative measures and absence of significant psychological morbidity must be demonstrated. METHODS: Workplace screening for the HFE C282Y mutation and then clinical care for C282Y homozygotes was instituted. Data were collected on understanding of test results, perceived health status and anxiety for C282Y homozygotes compared with controls. Uptake of clinical care, compliance and response to treatment and changes in diet were monitored for up to 4 years for C282Y homozygotes. RESULTS: After 11 307 individuals were screened, 40/47 (85%) newly identified C282Y homozygotes completed questionnaires 12 months after diagnosis compared with 79/126 (63%) of controls. Significantly more C282Y homozygotes correctly remembered their test result compared with controls (95 vs 51%, P<0.0001). No significant difference in perceived health status was observed within or between the two groups at 12 months compared with baseline. Anxiety levels decreased significantly for C282Y homozygotes at 12 months compared with before testing (P<0.05). Forty-five of the 47 (95.8%) C282Y homozygotes accessed clinical care for at least 12 months. All 22 participants requiring therapeutic venesection complied with treatment for at least 12 months (range 12-47 months). CONCLUSION: Individuals at a high genetic risk of developing haemochromatosis use clinical services appropriately, maintain their health and are not 'worried well'. Population genetic screening for haemochromatosis can be conducted in the work place in a way that is acceptable and beneficial to participants.