Definition:
Hemochromatosis is a hereditary disease characterized by excessive absorption of dietary iron resulting in a pathologic increase on total body iron stores. Human, like virtually all animals, have no means to excrete excess iron. Excess iron accumulates in tissues and organs disrupting their normal function.
Diagnosis:
Early diagnosis is important due to the late effects of iron accumulation can be wholly prevented by periodic phlebotomies (by venesection) comparable in volume to blood donations.
Treatment:
Treatment is initiated when ferritin levels reach 300 milligrams per liter or 200 in non-pregnant premenopausal women. Phlebotomy or bloodletting is usually done during weekly interval until ferritin levels are less than 20 milligrams per liter. After that, 1-4 donations per year are needed to maintain iron balance.
Symptoms and Signs:
Haemochromatosis is protean in its manifestations, example is often presenting with signs or symptoms suggestive of other diagnoses that affect specific organ systems. Several signs and symptoms below are uncommon and for most patients with the hereditary form of haemochromatosis do not show any overt signs of disease nor do they suffer premature morbidity.
Causes:
The most susceptible organs include the liver, adrenal glands, the heart and the pancreas; patients can present with cirrhosis, adrenal insufficiency, heart failure or diabetes. The hereditary form of the disease is very common to those Northern European ancestry in particular those of British descent.
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