Iron Metabolism: Disorders


Recently, major advances have been made in understanding iron metabolism and genetic defects that cause abnormalities of iron homeostasis. While most clinicians appreciate the prevalence and morbidity of iron deficiency, many are still ignorant about hemochromatosis. There are several types of hemochromatosis; the genes for some have been identified and mapped, but others remain elusive.

Keywords: iron; anemia; hemochromatosis; erythropoiesis; transferrin

Figure 1.

Current understanding of non‐heme iron transport in intestinal epithelial cells. The diagram shows essential transporters and accessory proteins as described in the text.



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Further Reading

Aisen P, Enns C and Wessling‐Resnick M (2001) Chemistry and biology of eukaryotic iron metabolism. International Journal of Biochemistry and Cell Biology 33: 940–959.

Andrews NC (1999) Medical progress: disorders of iron metabolism. New England Journal of Medicine 341: 1986–1995.

Andrews NC (2000) Iron homeostasis: insights from genetics and animal models. Nature Reviews Genetics 1: 208–217.

Camaschella C, De Gobbi M and Roetto A (2001) Hereditary hemochromatosis: progress and perspectives. Reviews in Clinical and Experimental Hematology 4: 302–321.

Web Links

Hemochromatosis (HFE); LocusID: 3077. LocusLink:

Transferrin receptor 2 (TFR2); LocusID: 7036. LocusLink:

Hemochromatosis (HFE); MIM number: 235200. OMIM:‐post/Omim/dispmim?235200

Transferrin receptor 2 (TFR2); MIM number: 604720. OMIM:‐post/Omim/dispmim?604720

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Andrews, Nancy C(Jan 2006) Iron Metabolism: Disorders. In: eLS. John Wiley & Sons Ltd, Chichester. [doi: 10.1038/npg.els.0006072]