This subproject is one of many research subprojects utilizing the resources provided by a Center grant funded by NIH/NCRR. The subproject and investigator (PI) may have received primary funding from another NIH source, and thus could be represented in other CRISP entries. The institution listed is for the Center, which is not necessarily the institution for the investigator. We propose to serve as a Field Center to screen 20,000 primary-care patients for iron overload and hereditary hemochromatosis at the ambulatory clinics of the University of California, Irvine (UCI). In addition, we will arrange collaboration with the Vietnamese Community of Orange County (VNCOC), Asian Health Center, the Laguna Beach Community Clinic, Kaiser Permanente Clinic in Santa Ana, Healthcare System 2000 Health Care Clinic in Garden Grove, Nhan Hoa Comprehensive Healthcare Clinic, and the Huntington Beach Community Clinic. The overall objective of the screening effort will be to contribute to a national study of the prevalence, genetic and environmental determinants, and potential clinical, personal, and societal impact of iron overload and hereditary hemochromatosis.
Our specific aims are the following: 1. Participate in protocol development, OMB clearance, training, pilot testing, and protocol modification. 2. Conduct phenotypic and genotypic screening for iron overload and hemochromatosis in primary care-based settings and assess quantitative and qualitative ethical, legal, and social issues (ELSI) related to implementation of primary care-based screening for iron overload and hemochromatosis. 3. Perform comprehensive clinical examinations of phenotype and/or genotype-positive individuals and a random sample of control subjects. 4. Conduct family studies of genotype-positive participants and/or participants with hemochromatosis including a morbidity and mortality follow-up in all main or family study participants. 5. Conduct an investigator-initiated substudy to determine optimal screening thresholds of transferrin saturation for detection of iron overload and hemochromatosis.
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