Screening for HH is controversial and is currently being debated in the medical literature. Laboratory tests to screen for HH in the asymptomatic general population are not currently 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 to confirm HH are costly for general population screening. Recent studies have shown that a high percentage of persons with C282Y mutations do not develop iron overload or HH-related clinical conditions, so screening for these mutations may falsely label an individual with a disease diagnosis. Determining which homozygotes or heterozygotes for HFE mutations will eventually develop iron overload is impossible. Furthermore, there is a potential risk of discrimination in obtaining health insurance for persons identified as having genetic disorders.
In contrast, some experts advocate screening the general population. Mutations associated with HH are prevalent 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 and widely available and offer one approach to screening for phenotypic expression of HH. Due to the high cost, molecular assays for HFE mutations are not typically recommended for population screening.
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
