A genetic defect that causes iron overload disease is the most common inherited disorder among whites, affecting one in 188 people of northern European descent. The study found that a simple test caught 94 percent of people with the inherited flaw.
However, the defect in the HLE gene does not account for all inherited forms of the disease, known as hemochromatosis. Other flawed genes apparently cause the disease in other ethnic groups. In hemochromatosis, the body is unable to get rid of excess iron. Over time, iron accumulation in the organs can cause skin discoloration, arthritis, diabetes, liver disease and heart failure.
The only effective treatment is bloodletting. If untreated, men generally start suffering permanent liver damage and other problems in their mid-40s; women usually don't get sick until a decade later, probably because they have lost blood regularly through menstruation and childbirth.
New England Journal of Medicine September 2, 1999.
COMMENT: This is an important observation, as heart disease is, of course, the number one cause of death in this country. About one in every 200 people have this problem of iron overload, most of whom are unaware of it.
The simple screening test to check for this problem is the serum ferritin level. It should be below 80. If it is significantly above 100, there is a high likelihood of hemochromatosis. As the article states, the only known treatment at this time is therapeutic phlebotomy, having one’s blood donated every month or so. This will prevent high levels of iron from accumulating and causing severe problems with oxidation reactions that accelerate the aging process and increase the risk for heart disease. I screen all of our heart disease patients for this and I probably see it on nearly ten percent of these patients.