Published online Mar 18, 2016. doi: 10.4254/wjh.v8.i8.395
Peer-review started: August 10, 2015
First decision: September 21, 2015
Revised: January 27, 2016
Accepted: March 7, 2016
Article in press: March 9, 2016
Published online: March 18, 2016
Processing time: 221 Days and 5.6 Hours
Core tip: The concept of hemochromatosis as a single disease entity has changed to an iron storage disease resulting from several genetic disorders although the final common metabolic pathway is inappropriate iron absorption from the intestine and progressive tissue iron loading. The most common form of the disease is due to a mutation in the human factors engineering gene resulting in cysteine tyrosine substitution at position 282 in the molecule. This mutation is relatively common in populations of northern European extraction but is rare in other populations. In contrast other rarer forms of hemochromatosis resulting from other mutations in the hepcidin pathway are quite ubiquitous. The main stay of treatment remains venesection although new oral iron-chelating agents show promise.