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Hemochromatosis aka Iron Overload

Hemochromatosis or iron overload is one of the most common inherited diseases in the U.S. and yet you've probably never heard of it. About one in 250 Americans has two copies of the mutated gene responsible for the disease. The gene is most prevalent in people of northern European descent and in men more than women because menstruation and childbirth re-moves some of the body's excess iron.

Hemochromatosis occurs when the intestine absorbs too much iron from food. Most people store 2-4 grams of iron while those with iron overload may accumulate 20 or more grams. Iron is normally stored in the bone marrow, but in people with the defective gene, iron may settle into the liver, pancreas, heart, skin, and pituitary gland. When large quantities of iron collect in these vital organs, it may injure the cells and cause potentially fatal problems.

The majority of people with iron overload don't know they have it because they are symptom-free or the disease's symptoms - fatigue, weight loss, joint pain, infertility (in both men and women), early menopause, and loss of libido, don't occur until the 40s or older when they may be attributed to other conditions. The disease, once thought to be rare, is often an unsuspected cause of some cases of arthritis, diabetes, congestive heart failure, and liver disease. The liver is usually the first organ to be affected by iron overload. Over time, liver deposits cause scarring or cirrhosis which destroys the liver's ability to manufacture proteins and remove toxic chemicals from the blood. Liver failure causes approximately 25% of deaths from untreated hemochromatosis. Between 10-30% of those with cirrhosis develop liver cancer. Alcohol accelerates the progression of liver disease so patients should avoid all alcohol. When the heart accumulates iron, arrhythmia (irregular heartbeat) or congestive heart failure may result. The pituitary gland makes hormones that control sex organs. Iron overload in the pituitary can cause a man's testicles to shrink and in both men and women, a loss of libido and/or fertility. In advanced cases of hemochromatosis, iron may accumulate in the skin, giving it a bronze or gray tone.

Diabetes is common in people with untreated hemochromatosis because high amounts of iron destroy the pancre-atic cells responsible for making insulin. Because it often goes unrecognized, all diabetics should ask their physicians to request a screening for hemochromatosis.

The blood tests used to detect hemochromatosis are simple and inexpensive. The body's iron stores are gauged by three blood measurements. When these three measurements are evaluated together, hemochromatosis can be diagnosed about 90% of the time.

  1. The amount of iron present. The normal range for men is 70-150 micrograms per deciliter and 80-150 micro-grams per deciliter for women.
  2. The degree to which transferrin (a protein that transports iron in the blood to the liver, spleen, and bone marrow) is saturated with iron. Normal transferrin levels range from 220-400 micrograms per deciliter, 65-170 mcg of which are bound to iron
  3. Ferritin - the storage form of iron - level is directly related to the amount of iron stored in the body.

Given the high incidence of the gene mutation and the fact that symptoms generally don't occur until middle age, people most at risk - those of northern European descent - would be wise to be tested. For an accurate test, do not take any supplements containing iron for at least a week and preferably, two weeks and do not eat for at least 8 hours prior to having the blood test performed.

If the blood tests confirm high iron levels, a liver biopsy may be recommended to determine the degree of liver damage. At present, liver biopsy is the "gold standard" for diagnosing hemochromatosis. Genetic testing is used primarily to confirm a diagnosis or to identify affected family members. First-degree relatives of someone with hemochromatosis should be screened for the disease.

Treatment for hemochromatosis involves removing blood from the body, known as phlebotomy. A pint of blood is drawn weekly for up to two years, depending on how much iron has accumulated. Each pint removes 200 to 250 milligrams of iron from the body - about the amount of excess iron absorbed by the intestine over three months. Once a patient's iron level is normalized, phlebotomy every three to four months is usually enough to prevent further accumulation. Patients who begin treatment before developing organ damage generally have a normal life-span. In more advanced cases, phlebotomy slows or halts further organ damage.



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