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Human Molecular Genetics, 2001, Vol. 10, No. 20 2181-2186
© 2001 Oxford University Press

Recent advances in disorders of iron metabolism: mutations, mechanisms and modifiers

Cindy N. Roy1,2 and Nancy C. Andrews1,3,+

1Division of Hematology/Oncology, Children’s Hospital, Department of Pediatrics, Harvard Medical School, 2Division of Hematology/Oncology, Brigham and Women’s Hospital and 3Howard Hughes Medical Institute, Boston, MA 02115, USA

The spectrum of known disorders of iron metabolism has expanded dramatically over the past few years. Identification of HFE, the gene most commonly mutated in patients with hereditary hemochromatosis, has allowed molecular diagnosis and paved the way for identification of other genes, such as TFR2, that are important in non-HFE-associated iron overload. There are clearly several other, unidentified, iron overload disease genes yet to be found. In parallel, our understanding of iron transport has expanded through identification of Fpn1/Ireg1/MTP1, Sfxn1 and Dcytb. Ongoing studies of Friedreich’s ataxia, sideroblastic anemia, aceruloplasminemia and neurodegeneration with brain-iron accumulation are clarifying the role for iron in the nervous system. Finally, as the number of known iron metabolic genes increases and their respective functions are ascertained, new opportunities have arisen to identify genetic modifiers of iron homeostasis.

+ To whom correspondence should be addressed at: Division of Hematology, Enders 720, Children’s Hospital, 300 Longwood Avenue, Boston, MA 02115, USA. Tel: +1 617 355 7265; Fax: +1 617 734 6791; Email: nancy_andrews@hms.harvard.edu


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