18 January 2019

Hereditary hemochromatosis

Excess iron in the body was associated with an additional risk of age-related diseases

Polina Loseva, "The Attic"

Hemochromatosis is a disease in which the body absorbs excess iron from food and accumulates it in tissues. Previously, it was believed that it does not cause much harm to health. But new research shows that hereditary hemochromatosis (caused by a genetic mutation) increases the risk of developing a variety of diseases, from diabetes to liver cancer. Fortunately, it is easy to diagnose and even easier to cure.

Mutations responsible for hereditary hemochromatosis are carried in their genome by about one in ten people of Northern European origin and, according to some estimates, one in three North Americans. They affect the HFE gene, which regulates the production of hepcidin, a protein that inhibits the absorption of iron in the intestine. Homozygotes, that is, those who have both copies of the gene contain a mutation, are much smaller – about 1 person out of 150. However, all these people are at risk of developing hemochromatosis, that is, excessive iron absorption.

We used to think of iron as an absolutely useful trace element necessary for hematopoiesis. Probably, it was advantageous for human ancestors to suck maximum iron from food, since they did not always come across meat. However, in large quantities, iron can be harmful, multiplying the amount of free radicals in tissues and preventing cells from fighting 

oxidative stress. Recently, there has been a growing number of studies linking elevated levels of iron in the blood with the risk of developing many diseases, including stroke, heart failure, diabetes and even cancer.

Among homozygotes, hemochromatosis mutation is diagnosed in every second man and every fourth woman. A group of British and American scientists calculated the additional risks that arise in such patients. They analyzed the medical histories of almost three thousand people with a mutation in both copies of genes, whose average age was 63 years. It turned out that 15% of men and 10% of women developed additional diseases, and among people without mutations in the HFE gene, there were 5 and 3%, respectively. These diseases included chronic pain, diabetes, muscle weakness and joint fragility. Homozygotes by mutation were twice as likely to suffer from atritis, and four times more likely to suffer from liver diseases, including cancer.

Thus, many diseases that we are accustomed to associate with old age and consider inevitable may be just a consequence of hemochromatosis. This means that they can be prevented with the help of genetic testing and prevention.

At the moment, one effective and simple method is known to cope with heterochromatosis – this is regular bloodletting. That is why, by the way, women are less likely than men to develop this disease: they lose blood naturally during menstruation.

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