Hemochromatosis Support Group

Haemochromatosis, also spelled hemochromatosis, is a hereditary disease characterized by improper processing by the body of dietary iron which causes iron to accumulate in a number of body tissues, eventually causing organ dysfunction. It is the main iron overload disorder. Haemochromatosis is notoriously protean, i.e., it presents with symptoms that are often initially attributed to other diseases. Males are usually diagnosed after their forties, and women about a decade later, owing to regular iron loss by menstruation (which ceases in menopause), but cases have been found in young children as well.

Hemochromatosis is one of the most common inheritable genetic defects, especially in people of northern European extraction, with about 1 in 10 people carrying the defective gene. The prevalence of haemochromatosis varies in different populations. In Northern Europeans it is of the order of one in 400 persons. Other populations probably have a lower prevalence of this disease. It is presumed, through genetic studies, that the "first" haemochromatosis patient, possibly of Celtic ethnicity, lived 60-70 generations ago. Around that time, when diet was poor, the presence of a mutant allelle may have provided a heterozygous advantage in maintaining sufficient iron levels in the blood. With our current rich diets, this 'extra help' is unnecessary and indeed harmful.

Early diagnosis is important because the late effects of iron accumulation can be wholly prevented by periodic phlebotomies (venesection) (comparable in volume to blood donations). Treatment is initiated when ferritin levels reach 300 micrograms per litre (or 200 in nonpregnant premenopausal women).

Every bag of blood (450-500 ml) contains 200-250 milligrams of iron. Phlebotomy (or blood letting) is usually done at a weekly interval until ferritin levels have returned to normal. After that, 1-4 donations per year are usually needed to maintain iron balance.

Other parts of the treatment include:

* Treatment of organ damage (heart failure with diuretics and ACE inhibitor therapy).
* Limiting alcohol intake, vitamin C intake (increases iron absorption in the gut), red meat (is high in iron) and potential causes for food poisoning (shellfish, seafood).
* Increasing intake of substances that inhibit iron absorption, such as high-tannin tea, calcium, and oxalic and phytic acid. (These must be consumed at the same time as the iron-containing foods in order to be effective.)