A mutation in SLC11A3 is associated with autosomal dominant hemochromatosis

  • Nat Genet. 2001 Jul;28(3):213-4. doi: 10.1038/90038.
O T Njajou  1 ,  N Vaessen ,  M Joosse ,  B Berghuis ,  J W van Dongen ,  M H Breuning ,  P J Snijders ,  W P Rutten ,  L A Sandkuijl ,  B A Oostra ,  C M van Duijn ,  P Heutink
Affiliations
  • 1. Genetic-Epidemiology Unit: Department of Epidemiology & Biostatistics and Department of Clinical Genetics, Erasmus University Rotterdam, The Netherlands.
PMID: 11431687 DOI: 10.1038/90038
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.