Synonyms
Primary siderosis, hemosiderosis, siderophilia, iron storage disease English: hematochromatosis
Introduction
Hemochromatosis is a disease in which there is an increased absorption of iron in the upper small intestine. This increased absorption of iron causes the total iron in the body to rise from 2-6g to values up to 80g. This iron overload results in the formation of iron deposits in many different organs such as the heart, liver, spleen, pancreas, thyroid and the so-called pituitary gland, which impair organ function over a long period of time.
Epidemiology/frequency distribution
Hemochromatosis is a rare disease. About 0.3-0.5% of the Northern European population is affected by this disease. Only people with a homozygous genetic defect are affected.
Approximately 10% of the Northern European population is heterozygous for the HFE gene defect. It is currently estimated that about 200,000 people in Germany are affected by hemochromatosis. It can also happen that pure-bred people for the HFE gene defect do not develop the disease in the first place.
This is due to the different penetrance of the disease. Men fall ill 5-10 times more often than women, since women lose blood and thus iron every month. The majority of patients develop hemochromatosis between the 4th and 6th decade of life.
Hemochromatosis, like many diseases of internal medicine, can be divided into a primary and a secondary form: Since it is also important to know how this hereditary disease behaves genetically, hemochromatosis is given the additional name of an autosomal recessive hereditary disease. This means that the disease can only manifest itself when two people with the same genetic defect have a child. In contrast to the recessive hereditary diseases, the dominant hereditary diseases are the dominant hereditary diseases.
Here it is sufficient for one parent to have the faulty information for a gene. As mentioned above, in a hereditary disease a certain gene is defective, which can then lead to the manifestation of the disease. In 80% of hemochromatosis patients a mutation in the so-called HFE gene is present: The HFE gene contains the information for a protein which is called hereditary hemochromatosis protein.
The function of this protein is that it initiates the production of another substance, namely hepcidin. Together with other proteins, hepcidin prevents the absorption of ice through the intestines. So if the HFE protein is disrupted, no hepcidin can be produced and the intestine can absorb iron unchecked.
The body is dependent on removing iron from the intestine because it has no other means of excreting iron. Secondary hemochromatosis develops at the bottom of another pre-existing underlying disease:
- In this sense, primary means that hemochromatosis is the underlying disease, while secondary hemochromatosis is another causal disease responsible for iron overload. Primary hemochromatosis belongs to the group of hereditary diseases. In this case, the genetic material contains incorrect information that upsets the normal iron balance.
- This acquired iron overload can, for example, simply be the result of an excessive iron intake through food. This is more common in the southern Sahara region, where spirits are distilled in iron vessels.
- In other cases, for example, blood transfusions, which are usually used in the context of anemia, can lead to secondary hemochromatosis.
- Hemolysis (destruction of red blood cells) can also lead to iron overload, as the iron released from the red blood cells accumulates in the body.
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