Hemochromatosis

Hemochromatosis is an excess accumulation of iron stored in the body. On this site, the term hemochromatosis should be assumed to refer to Hemochromatosis Type 1, also know as HFE Hereditary Hemochromatosis, unless otherwise specified. This is the most common form of iron storage disorders, especially among those with Northern European ancestry. There are other forms of hemochromatosis which are less common.

Hemochromatosis is a genetic disorder caused by variants of the HFE gene. It is a recessive disorder which means that you must inherit two variants of the gene to be affected, one from each parent. If you inherit only one variant gene, then you will be a carrier and unlikely to be affected. In addition, even those with two variants are not always affected.

Variants of the HFE gene are more common in those with Northern European ancestry and extremely rare in other ethnic groups. In this context, Northern Europe means non-Mediterranean Europe, including the British Isles. Since it is a recessive disorder, those without Northern European ancestry are unlikely to be affected by this form of hemochromatosis.

Hemochromatosis is believed to cause increased absorption of iron compared to normal. The human body has no mechanism to eliminate excess iron. The only means to deal with excess iron is to convert the iron to stored iron in various organs, most commonly the liver. When the amount of stored iron in the organs becomes too high it can cause damage to the organ, and in severe cases can cause serious organ damage which could be fatal. With early diagnosis and treatment, serious organ damage can be avoided.

Diagnosis is primarily determined by blood tests, and can include genetic tests and liver tests. It is also typical to do additional tests to eliminate other causes for abnormal results from blood tests. If the results of the blood tests are very high, treatment might begin immediately, even before further testing it done, as this may indicate risk of serious organ damage.

The common treatment is frequent phlebotomy or blood donation to reduce the body's stored iron. Normal blood donation is usually limited to no more often than every two months, but for treating hemochromatosis a more frequent schedule is required. A typical schedule is one phlebotomy per week, though in serious cases it may be done as often as twice a week. In less serious cases, or as iron storage levels decrease, a bi-weekly schedule may be used. If for some reason it is not possible to treat with phlebotomy, the alternative treatment is iron chelation, which is the use of drugs which can bind to iron in your blood in such a way that your body can eliminate it, though this treatment is less effective. When iron levels go below the goal, treatment is completed.

Since this disorder will cause iron storage to increase again, after iron levels are below the goal it is necessary to start the process of maintenance to keep your iron at a safe levels. This can involve changes of diet to reduce the amount of dietary iron ingested, and less frequent phlebotomy to periodically eliminate excess iron. Unlike during treatment, during maintenance it is usually only necessary to undergo phlebotomy 1-6 times per year depending on your rate of accumulation and changes to diet. Periodic blood tests will be done to ensure your iron is kept to safe levels. This will be a continual process to avoid future increases of iron.