What is Hemochromatosis?

Hemochromatosis is a condition in which the body absorbs and retains too much iron. This can cause multiple organ failures, as various organs struggle to cope with the iron overload. It has also been linked to various organ cancers and other medical problems which are caused by a failure to diagnoses hemochromatosis in a timely fashion. Primary hemochromatosis is a genetic disorder, while secondary hemochromatosis can be caused by a variety of factors including alcoholism. This condition can be tricky to diagnose, because it presents with a range of symptoms which can make it difficult to identify.

In small amounts, iron is an essential dietary nutrient, and it is a very important constituent of red blood cells. In someone with hemochromatosis, the body absorbs a high volume of iron and it is unable to flush the excess. Iron accumulates in various body tissues, causing a range of symptoms from darkened skin to diabetes; darkened skin is such a common symptom that some people call hemochromatosis “bronzing disease”. The condition is also associated with liver and kidney failure, and symptoms can ebb and flow, making it even more challenging to diagnose hemochromatosis.

Diagnosis is usually accomplished with a blood test which checks for elevated iron levels. Treatment involves periodic phlebotomy, or blood letting, in which a pint or so of blood is removed to lower the iron concentration in the blood. Some doctors also use clues from other diagnostic tests like medical imaging to uncover a case of hemochromatosis. In people with a family history of the condition, a doctor may monitor a patient carefully to catch the early signs of hemochromatosis.

If left untreated, hemochromatosis can cause serious medical problems, as it will damage the organs of the body. The earlier a patient is diagnosed, the better the long term prognosis will be, as the patient can receive regular phlebotomy to reduce iron volume in the blood. Doctors may also make dietary recommendations which are designed to decrease the amount of stored iron in the body, and patients are encouraged to avoid substances with a high iron content.

Hemochromatosis is among the most common of genetic defects, especially among Northern Europeans. The condition may have once been useful, when humans had difficulty eating a balanced diet, as the increased storage of iron would have benefited malnourished early humans. Primary hemochromatosis is recessive, meaning that someone must get the defective gene from both parents in order to develop hemochromatosis.