In recent years many new genes and proteins were identified with crucial fu
nctions in iron metabolism. This gave an explosion of our knowledge and und
erstanding of iron related disorders. Mutations have been found that are re
sponsible for disturbances in iron transport, leading to either iron overlo
ad or iron deficiency. For experts in the field, these new findings clarify
the sky and open new routes for exploring hitherto hidden fields of resear
ch. For the physician, however, iron metabolism may become even more compli
cated. In this review, we have tried to assemble all new iron related genes
into the context of pathophysiology. Important results from animal experim
ents, mainly derived from knockout mouse models, are included in this revie
w as they often explain the phenotype of human disease. (C) 2000 Elsevier S
cience Ltd. All rights reserved.