Editing Iron overload (section)

==== Hereditary hemochromatosis ====
Hereditary hemochromatoses (HH or HHC) are genetic disorders. Hereditary hemochromatosis type 1 (HH type 1) is caused by mutations of [[HFE gene]], mainly C282Y/C282Y mutation. This mutation is present in 1:200-300 of the Caucasian population in the [[United States]] and [[Northern Europe]] with lower incidence in other ethnic groups, but only 10-33% (clinical penetrance) of them will develop iron overload.<ref>{{cite web | title = Hemochromatosis | url = http://digestive.niddk.nih.gov/ddiseases/pubs/hemochromatosis/index.htm | access-date = 2012-10-05 | archive-url = https://web.archive.org/web/20070318063028/http://digestive.niddk.nih.gov/ddiseases/pubs/hemochromatosis/index.htm | archive-date = 2007-03-18 | url-status = dead }}</ref> Mutations of the HFE gene (homeostatic iron regulator) located on chromosome 6 (responsible for iron regulatory protein [[hepcidin]] regulation) are responsible for most cases of hereditary hemochromatosis; 80-90% of cases of hereditary hemochromatosis involve a mutation of this HFE gene; 90-95% in [[Northern Europe]].<ref name="pmid35699322"/><ref name="NEJM Olynyk" /> Non-HFE hereditary hemochromatosis involves mutations in genes coding for the iron regulatory proteins [[hemojuvelin]], [[transferrin receptor-2]], [[ferroportin]], and HAMP.<ref name="NEJM Olynyk" />

Hereditary hemochromatosis is characterized by an accelerated rate of intestinal iron absorption and progressive iron deposition in various tissues. This typically begins to be expressed in the third to fifth decades of life, but may occur in children. The clinical presentation of hepatic [[cirrhosis]], [[hypogonadism]], [[cardiomyopathy]], [[diabetes]], [[arthritis]], or [[hyperpigmentation]] is uncommon in current patients. Because of the severe [[sequela]]e of this disorder if left untreated, and recognizing that treatment is relatively simple, early diagnosis before symptoms or signs appear is important.<ref name="pmid20542038">{{cite journal |last1=Pietrangelo |first1=Antonello |title=Hereditary Hemochromatosis: Pathogenesis, Diagnosis, and Treatment |journal=Gastroenterology |volume=139 |issue=2 |pages=393–408 |year=2010 |pmid=20542038 |doi=10.1053/j.gastro.2010.06.013|doi-access=free }}</ref><ref name="pmid10488796">{{cite journal |last1=Brandhagen |first1=D J |last2=Fairbanks |first2=V F |last3=Batts |first3=K P |last4=Thibodeau |first4=S N |title=Update on hereditary hemochromatosis and the HFE gene |journal=Mayo Clinic Proceedings |volume=74 |issue=9 |pages=917–21 |year=1999 |pmid=10488796 |doi=10.4065/74.9.917|doi-access=free }}</ref>