Hemochromatosis (Iron Overload) (cont.)
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Once the diagnosis of hemochromatosis is made in an individual, screening of the first-degree relatives is of utmost importance. This is the most significant step in preventing the disease manifestations in family members of the affected person, and it is considered the standard of care.
Screening of the first-degree relatives of the patient with hemochromatosis may be done by measuring serum ferritin and transferrin saturation. Genetic testing for the HFE gene mutation has also been recommended in this population for both screening and confirmation of the diagnosis. The ages between 20-30 are generally recommended for screening of the first degree relatives.
Routine screening for hemochromatosis in the general population has undergone considerable debate. Despite its relatively significant prevalence, a population-based genetic screening (testing the entire population) for hereditary hemochromatosis is not advocated based on recent studies.
Recent studies promote screening tests for at-risk individuals who may have clinical suggestion of iron overload, such as elevated liver enzymes or early arthritis, in people of Northern European ancestry. This approach is not an established recommendation as of yet.
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