Hereditary Hemochromatosis is a genetic disorder in which there is excessive accumulation of iron in the body (iron overload).
Hemochromatosis allows iron (a vital nutrient element used in hemoglobin) to build up in the bloodstream after red blood cells are disposed of. The iron instead builds up in the body's organs, slowly poisoning them. The excess iron also has other side effects that may or may not be present in any given patient. The build up occurs regardless of the amount of iron in a patient's diet. (see Iron toxicity for the other condition).
As the metabolism of iron is poorly understood, the mechanism of the disease is similarly a mystery. Humans (as well as other mammals) do not excrete iron, but can process it from dietary sources. It is believed the body regulates its uptake of iron from the diet when iron levels in the body are low. However, in patients with hemochromatosis, the body continuously absorbs iron from the diet, building it to levels the body cannot use for hemoglobin production. It is known that patients with the disorder have a malformed HFE gene. It is believed that this malformed gene either does not allow the body to regulate its intake of iron from the diet, or prevents it from discharging iron in stool. In either case, iron from dead red blood cells is not passed out of the body and continues to accumulate indefinitely. the heart and liver are usually affected first, followed by the pancreas.
Hemochromatosis is difficult to diagnose because the patient may present with only a few of the symptoms depending on how the disease progresses. It also requires Invasive procedures in order to test for it. It is therefore often overlooked or mistaken for more common conditions.
The disease can also be induced in patients who get large amounts of blood transfusions. As such, transfusions and iron supplements will only make the symptoms worse and must be avoided.
Bleeding is the preferred treatment - a similar amount of blood to that in a blood donation is removed on a regular basis, and the iron in the hemoglobin is removed from the body as well. Certain foods must be avoided, such as alcohol and Vitamin C (both of which increase iron absorption) and red meat (which is high in dietary iron). Chelation therapy is also effective.
Hemochromatosis is one of the most common diseases found in patients on House M.D. Apart from Cancer, the most frequent diagnosis, only different forms of porphyria are diagnosed in a patient as often as hemochromatosis.