Prevalence of C282Y and H63D Mutations in the Hemochromatosis (HFE) Gene in the United States
Open Access
- 2 May 2001
- journal article
- research article
- Published by American Medical Association (AMA) in JAMA
- Vol. 285 (17) , 2216-2222
- https://doi.org/10.1001/jama.285.17.2216
Abstract
Now that the human genome has been sequenced, and as scientists elucidate the location and function of all human genes, public health policymakers face the daunting task of making complex decisions about the appropriateness and usefulness of genetic screening. To make such decisions, they will first need population-based estimates of the prevalence and penetrance of these mutations. Hereditary hemochromatosis (HH), a major form of iron overload disease, can serve as a model for making such decisions.Keywords
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