Hemochromatosis and iron overload screening (HEIRS) study design for an evaluation of 100,000 primary care-based adults

摘要: ABSTRACT Background The HEIRS Study will evaluate the prevalence, genetic and environmental determinants, potential clinical, personal, societal impact of hemochromatosis iron overload in a multiethnic, primary care-based sample 100,000 adults over 5-year period. Participants are recruited from 5 Field Centers. Laboratory testing data management analysis performed Central Coordinating Center, respectively. Methods undergo for serum measures common mutations gene ( HFE ) on chromosome 6p answer questions demographics, health, attitudes. with elevated values transferrin saturation ferritin and/or C282Y homozygosity invited to comprehensive clinical examination (CCE), as frequency-matched control subjects. These examinations provide personal family medical history, lifestyle characteristics, physical examination, counseling, assessment ethical, legal, social implications. Primary secondary causes be distinguished by criteria. Iron confirmed quantification stores. Recruiting members cases permit DNA additional factors that affect overload. Results Of first 50,520 screened, 51% white, 24% African American, 11% Asian, Hispanic, 3% other, mixed, or unidentified race; 63% female 37% male. Conclusions Information inform policy regarding feasibility, optimal approach, individual public health benefits risks screening hemochromatosis.