Hereditary Hemochromatosis (Disease/Disorder Overview‪)‬

Hereditary hemochromatosis (HH) is a genetic disease that causes the body to absorb and store unhealthy amounts of iron. The name HH stems from "hemo" (blood) and "chroma" (color), referring to the characteristic bronze skin tone that iron overload can cause. Hemochromatosis was first described by Tousseau in 1865, who cared for a diabetic patient with cirrhosis of the liver and bronzed skin pigmentation, classic symptoms of HH. HH was given its name in 1889 by Von Recklinghausen who also identified an iron-containing pigment in the liver cells of cirrhosis patients. Then in 1935, Sheldon described the hereditary nature of the disease in his text Haemochromatosis. Iron is found in a number of foods and in many over-the-counter vitamin preparations. Each of us needs iron mostly to synthesize the heme in hemoglobin. We lose a certain amount each day (women lose more during their menstrual cycle); this iron must be replaced. Normally the body absorbs approximately 10% of the iron found in foods; people with hemochromatosis absorb double that amount and store it in synovium (joints) and major organs including the liver, heart, brain, pancreas, and lungs. Over many years, this excess stored iron accumulates to toxic levels that can damage or even destroy an organ. The iron overload can cause many health problems, most frequently a form of diabetes that is often resistant to insulin treatment. Because of pigmentation of the skin for the excess iron, hereditary hemochromatosis (HH) is sometimes called "bronze diabetes."