Screening for Hereditary Hemochromatosis

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Screening for Hereditary Hemochromatosis

Screening for HH is controversial and is currently being debated in the medical literature. Using laboratory tests to screen for HH in the asymptomatic general population is currently not recommended due to issues of testing costs, low genetic penetrance, and the possible risk of discrimination.16 The optimal age for screening has not been determined.

Molecular-based (DNA) assays required for confirmation of HH are costly when used for general population screening. Because recent studies have shown that a high percentage of persons with C282Y mutations do not develop iron overload or HH-related clinical conditions, screening for these mutations may falsely label an individual with a disease diagnosis. At present, it is impossible to determine which homozygotes or heterozygotes for HFE mutations will eventually develop iron overload. Furthermore, there is a potential risk of discrimination in obtaining health insurance for persons identified as having genetic disorders.
In contrast, some experts do advocate for screening the general population. Mutations associated with HH are very common in Caucasians in the US. Individuals who know they carry mutations associated with HH may benefit from periodic testing for iron overload. Finally, laboratory tests that assess iron status are relatively inexpensive, widely available, and offer one approach to screening for phenotypic expression of HH. Molecular assays for HFE mutations are not typically recommended for population screening due to the high cost.
Screening first-degree family members of a person with documented HH is generally considered worthwhile. Early detection of HH in relatives with common mutations may permit treatment before developing substantial iron overload and related disease due to organ damage.16