A genetic disorder characterised by enhanced absorption of iron. European prevalence 1:200, approximately 10% penetrance giving clinical disease prevalence of 1:2000.
Iron overload results in tissue deposits of haemosiderin. These may cause pancreatic damage ("bronzed diabetes" with characteristic cutaneous pigmentation), heart failure and arrhythmias, arthritis, and cirrhosis of the liver.
Treatment may include regular phlebotomy to control ferritin levels, dietary manipulation of iron absorption, and the management of end-organ disease.
