Population Screening for Hereditary Hemochromatosis More than a Quarter Century After Gene Discovery – Current Status and the Path Forward
February 15, 2024, 1:00 pm – 2:00 pm ET
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.
![Adams2 headshot of Kris V. Kowdley](./pop_screen_hereditary_hemochromatosis_2024_htm_files/Adams2.jpg)
Paul C. Adams, MD,
Professor, the Division of Gastroenterology,
Western University in London, Ontario, Canada
![Jarvik2 headshot of Gail Jarvik](./pop_screen_hereditary_hemochromatosis_2024_htm_files/Jarvik2.jpg)
Gail P. Jarvik, MD, PhD,
Head and Professor, Division of Medical Genetics
The Arno Motulsky Endowed Chair in Medicine
University of Washington
Seattle, Washington
![Kowdley2 headshot of Paul C Adams](./pop_screen_hereditary_hemochromatosis_2024_htm_files/Kowdley2.jpg)
Kris V. Kowdley, MD, FACP, FACG, AGAF, FAASLD
Director, Liver Institute Northwest
Clinical Professor, Elson S. Floyd College of Medicine
Washington State University
Spokane, Washington
Selected References
- Adams PC, et al. 2023. Haemochromatosis. Lancet 401(10390):1811-1821.
- Atkins JL, et al. 2020. Association of Hemochromatosis HFE p.C282Y Homozygosity With Hepatic Malignancy. JAMA 324(20):2048-2057.
- Burke W, et al. 1998. Hereditary Hemochromatosis: Gene Discovery and Its Implications for Population-Based Screening. JAMA 280(2):172-178.
- Gallego CJ, et al. Penetrance of Hemochromatosis in HFE Genotypes Resulting in p.Cys282Tyr and p.[Cys282Tyr];[His63Asp] in the eMERGE Network. American Journal of Human Genetics 97(4):512-520
Hosted by
- Public Health Genomics Branch in the Division of Blood Disorders and Public Health Genomics
- Precision Public Health Network