Hemochromatosis Update

If a person must have a genetic disease, hemochromatosis is the one to have. Although its mutation is the most common potentially fatal mutation in North America, hemochromatosis can be diagnosed early, treated simply and effectively, and can even be prevented. Hemochromatosis has also recently been selected by the National Institutes of Health as a model for helping physicians learn about treating genetic disease. As an update to a 1999 clinical article on hemochromatosis that appeared in The Permanente Journal, the present article presents information from a recent study of 41,038 Kaiser Permanente (KP) members in San Diego, each of whom had comprehensive biopsychosocial evaluation, genetic analysis for the HFE (hemochromatosis) gene, and measurement of iron load; this testing allowed genotype to be matched against iron load and physical findings. For the first time, a large control group was included to determine the extent to which the symptoms compatible with iron overload were actually caused by—not merely coincident with—iron overload. The purpose of the present article is to help physicians integrate this new clinical information into daily practice throughout the Kaiser Permanente Medical Care Program.