Iron deficiency and iron overload: effects of diet and genes.
Like most essential nutrients, Fe needs to be maintained in the body at a defined level for optimal health, with appropriate adaptation to varying Fe needs and supply. The primary mechanism for controlling Fe level is the regulation of Fe absorption. Several different proteins have been identified as contributors to the process. Despite a complex regulatory system, Fe disorders (both Fe deficiency and Fe overload) occur. Fe deficiency is a common problem worldwide, resulting from inadequate dietary Fe and blood loss. Complications include pre-term labour, developmental delay, and impaired work efficiency. No specific genetic syndromes causing isolated Fe deficiency have been described, but animal studies and clinical observations suggest that such a relationship may be a possibility. Conversely, the known causes of Fe overload are genetic. Fe overload is less common than Fe deficiency, but can result in serious medical complications, including cirrhosis, primary liver cancer, diabetes, cardiomyopathy and arthritis. The most common and best characterized syndrome of Fe overload is hereditary haemochromatosis (HHC), an autosomal recessive disorder. Mutations in the HFE protein cause HHC, but the clinical presentation is variable. Of particular interest is the factor that some FIFE genotypes appear to be associated with protection from Fe deficiency. Other genetic variants in the regulatory pathway may influence the likelihood of Fe deficiency and Fe overload. Studies of genetic variants in HFE and other regulatory proteins provide important tools for studying the biological processes in Fe regulation. This work is likely to lead to new insights into Fe disorders and potentially to new therapeutic approaches. It will not be complete, however, until coordinated study of both genetic and nutritional factors is undertaken.
Burke
W
W
Department of Medical History and Ethics, University of Washington, Seattle 98195, USA. wburke@u.washington.edu
Imperatore
G
G
Reyes
M
M
D018798:Anemia, Iron-Deficiency / Q000150:complications / Q000209:etiology; D005838:Genotype; D006801:Humans; D007408:Intestinal Absorption; D007501:Iron / Q000097:blood; D000090463:Iron Deficiencies; D019190:Iron Overload / Q000150:complications / Q000235:genetics*; D019266:Iron, Dietary / Q000493:pharmacokinetics*; D009154:Mutation
D019266:Iron, Dietary; D007501:Iron