Abstract
Hereditary hemochromatosis (HH) is a very common disorder characterized by iron overload and multi-organ damage. Several genes involved in iron metabolism have been implicated in the pathology of HH (refs. 1–4). We report that a mutation in the gene encoding Solute Carrier family 11, member A3 (SLC11A3), also known as ferroportin, is associated with autosomal dominant hemochromatosis.
This is a preview of subscription content, log in via an institution to check access.
Similar content being viewed by others
References
Feder, J.N. et al. Nature Genet. 13, 399–408 (1996).
Camaschella, C. et al. Nature Genet. 25, 14–15 (2000).
Roetto A. et al. Am. J. Hum. Genet. 64, 1388–1393 (1999).
Kato, J. et al. Am. J. Hum. Genet. (in press).
Goossens, J.P. et al. Lancet 1106–1107 (1977).
Eason, R.J. et al. Aust. N. Z. J. Med. 20, 226–230 (1990).
Pietrangelo, A. et al. N. Engl. J. Med. 341, 725–732 (1999).
Haile, D.J. et al. Cytogenet. Cell Genet. 88, 328–329 (2000).
Donovan, A. et al. Nature. 403, 776–781 (2000).
McKie, A.T. et al. Molec. Cell 5, 299–309 (2000).
Abboud, S. et al. J. Biochem 26, 19906–19912 (2000).
Cairo, G. et al. Biochem J. 352, 241–250 (2000).
Kaplan, J. et al. Nature 403, 711–712 (2000).
Fleming, M.D. et al. Nature Genet. 16, 383–386 (1997).
Fleming, M.D. et al. Proc. Natl. Acad. Sci. USA. 95, 1148–1153 (1998).
Acknowledgements
We thank the patients and relatives from the Genetic Research in Isolated Populations, the local healthcare centers and the municipality for making this study possible, J. Janssens and local physicians T.W.C. Snieders, G. Droge, P. van Wouw, M. Kraanen, C. Van Broeckoven, W.H.A. Bettink, C.J.M. Beukers and L.J. Dronkers for their help during the study, and E. Wauters and J. Houwing-Duistermaat for technical assistance.
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Njajou, O., Vaessen, N., Joosse, M. et al. A mutation in SLC11A3 is associated with autosomal dominant hemochromatosis. Nat Genet 28, 213–214 (2001). https://doi.org/10.1038/90038
Received:
Accepted:
Issue Date:
DOI: https://doi.org/10.1038/90038
- Springer Nature America, Inc.
This article is cited by
-
Type 4B hereditary hemochromatosis due to heterozygous p.D157A mutation in SLC40A1 complicated with hypopituitarism
Medical Molecular Morphology (2021)
-
Haemochromatosis
Nature Reviews Disease Primers (2018)
-
The mechanisms of systemic iron homeostasis and etiology, diagnosis, and treatment of hereditary hemochromatosis
International Journal of Hematology (2018)
-
Genetics of primary sclerosing cholangitis and pathophysiological implications
Nature Reviews Gastroenterology & Hepatology (2017)
-
Targeting iron metabolism in drug discovery and delivery
Nature Reviews Drug Discovery (2017)