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Jul 8
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Hemochromatosis, a genetic disease of iron

By accumulating iron in body tissues, hemochromatosis threatens organs. The treatment of hemochromatosis, however, allow patients to return to a completely normal life. Unfortunately, the diagnosis is often delayed. If the organs are affected too, hemochromatosis may cause cirrhosis, diabetes mellitus or even liver cancer ...

Hemochromatosis, presentation

Hemochromatosis is a genetic disorder causing iron poisoning. Indeed, the digestive tract of patients with hemochromatosis absorb too much iron from food (5 times more than normal). Gradually, the iron is concentrated in the tissues of the body. He eventually reach toxic levels and gradually destroys the tissue.
Cause of hemochromatosis

Hemochromatosis is a genetic disease. In France it is even the most common genetic disease, with 1 in 300 patients. Hemochromatosis is caused by mutation of a gene that will wipe hepcidin. However, hepcidin is a hormone responsible for regulating iron absorption. As a result, the body absorbs every day between 5 and 8 mg of iron as he did would take no more than 1 to 2 mg.
Symptoms of hemochromatosis

As the accumulation of iron has not reached a certain level, hemochromatosis go unnoticed. Usually the first symptoms appear about 20 years for men and 30 years for women. This difference is due to rules that allow women to remove some iron accumulated in the body. The first organs affected are primarily the glands, such as the pituitary, thyroid, adrenals, ovaries or testes. This condition causes so much fatigue. Gradually, the skin becomes grayish and heart rhythm is disturbed. Then it was the shortness of breath, sexual dysfunction or joint pain gradually settling. A sign is a fairly typical joint pain in the second and third finger, which make the handshake painful.
Evolution of hemochromatosis

The development of hemochromatosis depends essentially on early diagnosis. While the disease is handled early, patients can return to normal life. Hemochromatosis then have no effect on life expectancy. But if the diagnosis is delayed, the iron will permanently damage the organs. Patients with hemochromatosis may then suffer from diabetes mellitus, cirrhosis, liver cancer, osteoporosis, deformation of the fingers, hips destruction ... These conditions can lead to other complications or reduce life expectancy .
Treatment for hemochromatosis

The treatment of hemochromatosis is to eliminate regular part of the iron transported in the blood. For this, practice of phlebotomy, or bloodletting. After phlebotomy, the agency will seek to raise the iron levels in the blood by drawing on the accumulated stock in the tissues. This treatment is very simple the only one really effective. It is practiced in hospitals, in conditions close to a blood donation. After diagnosis, intensive treatment is practiced (1 week bleeding) to rid the body of accumulated iron from birth. Second, an intervention every month or every 3 months will suffice (maintenance therapy).

Did you know?

Contrary to what one might think, people with hemochromatosis do not need to change their diet. Just avoid alcoholic beverages and to protect the liver. Taking vitamin C in food supplements is not recommended because it facilitates the transfer of iron to the heart.