Nature Genetics
28, 213 - 214 (2001)
doi:10.1038/90038
A mutation in SLC11A3 is associated with autosomal dominant hemochromatosisOmer T. Njajou1, Norbert Vaessen1, Marijke Joosse1, Bianca Berghuis1, Jeroen W.F. van Dongen1, Martijn H. Breuning2, Pieter J.L.M. Snijders1, Wim P.F. Rutten3, Lodewijk A. Sandkuijl1, Ben A. Oostra1, Cornelia M. van Duijn1
& Peter Heutink11
Genetic-Epidemiology Unit: Department of Epidemiology & Biostatistics and Department of Clinical Genetics, Erasmus University Rotterdam, The Netherlands
2
Department of Anthropogenetics Leiden University Medical Center, The Netherlands
3
Stichting Huisarts Laboratorium Breda, The Netherlands. 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.
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