Testing and Management of Iron Overload After Genetic Screening-Identified Hemochromatosis.

ABSTRACT:

Importance

HFE gene-associated hereditary hemochromatosis type 1 (HH1) is underdiagnosed, resulting in missed opportunities for preventing morbidity and mortality.

Objective

To assess whether screening for p.Cys282Tyr homozygosity is associated with recognition and management of asymptomatic iron overload.

Design, setting, and participants

This cross-sectional study obtained data from the Geisinger MyCode Community Health Initiative, a biobank of biological samples and linked electronic health record data from a rural, integrated health care system. Participants included those who received a p.Cys282Tyr homozygous result via genomic screening (MyCode identified), had previously diagnosed HH1 (clinically identified), and those negative for p.Cys282Tyr homozygosity betw

SUBMITTER: Savatt JM 

PROVIDER: S-EPMC10594145 | biostudies-literature | 2023 Oct

REPOSITORIES: biostudies-literature