Population Screening for Hereditary Hemochromatosis More than a Quarter Century After Gene Discovery – Current Status and the Path Forward

Current data suggest that 1 in 300 non-Hispanic White individuals in the United States carry a genetic variation in the HFE gene (C282Y homozygosity) that accounts for most cases of hereditary hemochromatosis (HH). This variation can lead to iron overload and life-threatening complications, such as severe liver disease. However, complications are preventable with early diagnosis and periodic phlebotomies to remove excess iron from the body. At present, Tier 1 evidence-based guidelines support family-based genetic testing for HH. However, uncertainty remains concerning the best strategy for pre-symptomatic case identification and the suitability of HFE-associated HH as a target for population screening or ancestry-targeted screening using either measures of iron status or direct genetic testing. To devise optimal preventive strategies for HH, we must consider existing evidence about HH genetics, penetrance, and prevalence and the acceptability, cost, and effectiveness of potential screening strategies. In this webinar, our speakers will discuss how knowledge about HH has evolved since the discovery of the HFE gene in 1997, current opportunities for clinical and public health action to prevent disease, and future research priorities to advance case detection and reduce clinical complications from HH.