Association of <i>HFE</i> genotypes with hemochromatosis-related phenotypes in the All of Us research program.

ABSTRACT:

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 degree. We sought to examine the association of HFE variation with HH-related phenotypes and assess the prevalence of testing and diagnosis of HH using All of Us data.

Methods

We used data from 133,978 participants with genetic information linked to medical records. For different HFE genotypes, we examined the prevalence of HH diagnosis codes and related biochemical and clinical phenotypes.

Results

Among participants who were p.Cys282Tyr homozygote

SUBMITTER: Rao ND 

PROVIDER: S-EPMC11875803 | biostudies-literature | 2025

REPOSITORIES: biostudies-literature