A mutation in SLC11A3 is associated with autosomal dominant hemochromatosis


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. 14). 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.

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Figure 1: a, Pedigree of Dutch autosomal dominant hemochromatosis family with haplotypes for chromosome 2q markers (ordered from centromere to telomere).
Figure 2: Sequence alignment of region around the mutant residue in SLC11A3 (human) and other proteins.


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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.

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