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Iron deficiency and iron overload: effects of diet and genes

Published online by Cambridge University Press:  28 August 2007

Wylie Burke ,
Giuseppina Imperatore  and
Michelle Reyes
Wylie Burke*
Affiliation:
Department of Medical History and Ethics, University of Washington, Seattle, WA 98195, USA
Giuseppina Imperatore
Affiliation:
Division of Nutrition and Physical Activity, National Center for Chronic Disease Prevention and Health Promotion, Centers for Disease Control and Prevention, Atlanta, GA, USA
Michelle Reyes
Affiliation:
Division of Nutrition and Physical Activity, National Center for Chronic Disease Prevention and Health Promotion, Centers for Disease Control and Prevention, Atlanta, GA, USA
*
*Corresponding author: Dr Wylie Burke, fax +1 206 685 7515, email [email protected]
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Abstract

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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 HFE 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.

Keywords

Iron deficiencyIron overloadHereditary haemochromatosisIron regulatory pathway
Type
Micronutrient and Reprod. and Dev. Grps Sym. on relative contribution of diet and genotype to dev.
Information
Proceedings of the Nutrition Society , Volume 60 , Issue 1 , February 2001 , pp. 73 - 80
Copyright
Copyright © The Nutrition Society 2001

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