The cross-talk which has taken place in recent years between clinicians and scientists has resulted in a greater understanding of
iron metabolism with the discovery of new
iron-related genes including the
hepcidin gene which plays a critical role in regulating systemic
iron homeostasis. Consequently, the distinction between (a) genetic
iron-overload disorders including
haemochromatosis related to mutations in the HFE, hemojuvelin,
transferrin receptor 2 and
hepcidin genes and (b) non-haemochromatotic conditions related to mutations in the
ferroportin,
ceruloplasmin,
transferrin and di-
metal transporter 1 genes, and (c) acquired
iron-overload syndromes has become easier. However, major challenges still remain which include our understanding of the regulation of
hepcidin production, the identification of environmental and genetic modifiers of
iron burden and organ damage in
iron-overload syndromes, especially HFE
haemochromatosis, indications regarding the new oral
chelator,
deferasirox, and the development of new therapeutic tools interacting with the regulation of
iron metabolism.