The hereditary condition hemochromatosis, also called iron storage disease, is among the most common inherited metabolic diseases. It is caused by defects in the genes that are responsible for regulating the absorption of iron from food. These defects impair the function of these genes and lead to excessive absorption of iron, which, over the years, is deposited in the organs such as liver, heart, pancreas, pituitary gland, and the joints, and damages them. In this case, accompanying diseases such as diabetes
and liver cancer may appear.

Hemochromatosis is an “autosomal recessive” which usually occurs only when a person has inherited a defective iron storage gene from both parents. People with only one defective gene have a somewhat increased risk of disease, but only 540% of people with one gene have elevated iron levels. The inherited form of hemochromatosis is very common. One in ten persons has a defective gene and is
thus a carrier, while about one in 200 people have two defective genes and has a high risk of developing the iron storage disease.

Some symptoms of iron storage disease, for example, elevated liver function, are often misdiagnosed, which leads to a wrong treatment and to the worsening of the symptoms. Misdiagnoses are a common problem and, according to experts, 76% of cases are misdiagnosed. If left untreated, this disease can lead to early death, but it can be treated and even prevented by regular blood donations (4-6 times per year) or through phlebotomy therapy. Therefore, it is helpful to detect a genetic predisposition before symptoms appear. It may be possible to avoid symptoms with the help of preventive measures.

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