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
This review focuses on the management of iron metabolism and iron overload experienced in the hereditary condition, human factors engineering (HFE)-associated hemochromatosis. Hemochromatosis refers to a group of genetic diseases that result in iron overload; the major one globally is HFE-associated hemochromatosis. The evolution in understanding of the most common form of hereditary hemochromatosis, being the substation of cysteine to a tyrosine at position 282 in the HFE gene, has been extensively studied Novel mutations in both HFE and non-HFE genes have been indicated in this disease which hold significance in its application for the Asia-Pacific region. In conditions with iron overload, the storage of excess iron in various body tissues leads to complications and toxic damage. The most common presenting complaint for this disease is malaise, lethargy and other non-specific symptoms. In order to diagnose hereditary hemochromatosis, there are biochemical, imaging and genetic testing options. Currently, cascade screening of affected families is preferred over population-level screening. The mainstay of treatment is venesection and the appropriate approach to treatment has been consolidated over the years. Recently, the indications for venesection therapy of hemochromatosis have been challenged and are the subject of ongoing research.
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.