Association of HFE genotypes with hemochromatosis-related phenotypes in the All of Us research program

Association of HFE genotypes with hemochromatosis-related phenotypes in the All of Us research program

Purpose: Type 1 hereditary hemochromatosis (HH) can result in iron overload and liver disease if not detected and treated early. Most cases are found among people homozygous for HFE p.Cys282Tyr variants. Compound heterozygosity with the HFE p.His63Asp variant is associated with disease to a lesser d...

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Bibliographic Details
Main Authors: Nandana D. Rao, Ramal Moonesinghe, Lu Shi, Paul C. Adams, Gail P. Jarvik, Kris V. Kowdley, Laura A. Schieve, Scott D. Grosse, W. David Dotson, Muin J. Khoury
Format: Article
Language:English
Published: Elsevier 2025-01-01
Series:Genetics in Medicine Open
Subjects:
C282Y homozygosity
Genetic testing
Hereditary hemochromatosis
Iron overload
Liver disease
Online Access:http://www.sciencedirect.com/science/article/pii/S2949774424011051

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http://www.sciencedirect.com/science/article/pii/S2949774424011051

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