Association of HFE genotypes with hemochromatosis-related phenotypes in the All of Us research program
Limited serum transferrin-iron saturation measures or HH diagnosis codes among p.Cys282Tyr homozygotes, even those with liver disease, suggests potential undertesting and underdiagnosis of type 1 HH in clinical practice and a need for improved awareness, education, and testing around HH.
Authors
- Ramal Moonesinghe (ORCID: https://orcid.org/0000-0001-5327-533X)
- Muin J. Khoury (ORCID: https://orcid.org/0000-0002-9887-443X)
- Nandana D. Rao (ORCID: https://orcid.org/0000-0001-8078-0999)
- Lu Shi (ORCID: https://orcid.org/0000-0001-8352-2813)
- W. David Dotson (ORCID: https://orcid.org/0000-0002-9606-6594)
- Laura A. Schieve (ORCID: https://orcid.org/0000-0003-1215-0682)
- Scott D. Grosse (ORCID: https://orcid.org/0000-0003-1078-6855)
- Gail P. Jarvik (ORCID: https://orcid.org/0000-0002-6710-8708)
- Kris V. Kowdley (ORCID: https://orcid.org/0000-0002-8553-3652)
- Paul C. Adams
Institutions
- Western University (CA)
- Centers for Disease Control and Prevention (US)
- University of Washington Medical Center (US)
- National Center on Birth Defects and Developmental Disabilities (US)
- Liver Institute Northwest (US)
Publication Details
- Journal
- Genetics in Medicine Open
- Published
- 2025-01-01
- DOI
- https://doi.org/10.1016/j.gimo.2024.101959
- Citations
- 1
- Primary Topic
- Iron Metabolism and Disorders
- Type
- article
- Field-Weighted Citation Impact
- 1.77
Funders
- U.S. Department of Energy
- National Institutes of Health
- Centers for Disease Control and Prevention
- Oak Ridge Institute for Science and Education