The work of understanding the molecular genetics of hemochromatosis is underway, but many unresolved issues still remain. Most importantly, there are very few data on persons who were diagnosed with hemochromatosis on the basis of screening or early symptoms. We do not yet have a clear understanding of how the disease progresses in people who test positive by either serum iron measures or a test for hemochromatosis mutations. We are carefully reviewing the many issues related to screening, diagnosis, and treatment of hemochromatosis before we make any recommendations on a population basis. Without this information, it is not possible to determine the benefits of screening versus the potential for screening that could lead to unnecessary treatment.
Different methods are available for measuring transferrin saturation and serum ferritin.
Variation in results from different laboratories has been observed. Universal screening will require a standardized, reliable method for these laboratory measurements. CDC is conducting a study to compare analytic methods for measuring iron overload among national and international laboratories, as the first step in improving diagnostic approaches. Similar issues must also be addressed for genetic testing. Potential for harm from hemochromatosis diagnosis People diagnosed with hemochromatosis may face difficulties acquiring health, life, or disability insurance, or they may face discrimination based on having a genetic condition.