Iron storage disease - symptoms, development and therapy

Iron storage disease - symptoms, development and therapy

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Hemochromatosis: A harmful iron overload in the body

Hemochromatosis, also known as iron storage disease, is a chronic disease in which the trace element iron is taken up more and more from food and is deposited in central organs. In the long term, this excessive iron load can lead to considerable damage to the liver, heart, pancreas and joints. The disease in the primary form is genetic and therefore not curable. In order to maintain health despite hemochromatosis, bloodletting is the first choice in therapy. This is a very old rejection process of holistic medicine.

Definition and causes

Hemochromatosis is a primarily hereditary iron storage disease in which too much iron (ferrum) is absorbed and is deposited or accumulated in the tissues of various organs. Organ damage can occur as a long-term consequence of the toxic effects.

The most common form is a genetic disorder, also known as primary or hereditary (congenital) hemochromatosis. Depending on which gene mutation is present, four different types are distinguished.

Type one is the most common form in Europe and also in Germany and also one of the most common autosomal recessive inherited metabolic disorders. Across Europe, the incidence of emerging diseases is reported to be around one in a thousand people, with men being affected significantly more often. Women are usually only affected at an advanced age (after the menopause), probably due to the increased iron requirement in childbearing years.

Type 1 disease is also known as classic (adult) hemochromatosis, in which there is a mutation of the so-called HFE gene on chromosome 6. If the mutated gene was passed on from both parents, the disease typically manifests itself (with a probability of up to twenty-five percent) between the ages of thirty and fifty. The result is a disturbance in the iron metabolism with an increased iron absorption via the intestine. The juvenile form (type two), which expresses itself before the age of thirty, is very rare.

A distinction must be made between secondary hemochromatosis, which can be attributed to other underlying diseases. Often this is caused by a congenital or acquired malfunction in blood formation with anemia. Because this condition not only increases iron absorption in the intestine, but also requires additional blood transfusions. As a result, the body is overloaded with iron. Examples of a genetic disease in this context are thalassemia or sickle cell anemia. Myelodysplastic syndrome or myelofibrosis, on the other hand, are examples of acquired diseases that disrupt the bone marrow and blood formation there. In addition, alcoholism and chronic liver disease can lead to a secondary iron storage disease.

The term hemosiderosis (or siderosis) is sometimes used synonymously for hemochromatosis. This term is derived from hemosiderin, an iron-containing protein complex that can store iron in certain immune cells. In general, this can also take place very locally and proceed without tissue damage.


The first symptoms of the disease are rather non-specific, such as chronic fatigue, joint pain and abdominal pain or upper abdominal pain. Hormone disorders can also lead to a decreased libido and a change in menstruation in women and impotence in men.

Later complications, which are less common today due to previous diagnoses, are typically diabetes and dark skin pigmentation (also called bronze diabetes) and liver damage.

The long-term overload of iron causes cell damage in the liver, which can lead to cirrhosis of the liver and thus to an organ dysfunction. Other organs and structures can also be attacked. For example, enlargement of the spleen (splenomegaly), heart problems due to damage to the heart muscles (cardiomyopathies) or joint diseases occur.

Cancers such as liver cancer and pancreatic cancer are other serious consequences.

Disease development

In classic inherited hemochromatosis, involving the HFE gene, the specific gene mutation leads to a disruption of the regulatory mechanism for iron absorption via the small intestine. The iron absorption is mainly controlled by the hepcidin protein, which is synthesized in the liver, and the HFE protein. Hepcidin inhibits the absorption of iron from the intestine by binding to the cellular iron exporter (ferroportin). The HEF protein registers the iron content and has a corresponding effect on hepcidin production. If there is a corresponding mutation on the HFE gene, this mechanism is disrupted by hepcidin and there is permanent excessive absorption of iron.


Because of the initially rather uncharacteristic symptoms, it is often difficult to make a diagnosis. In addition to the anamnesis and clinical examinations, certain blood values ​​(iron values) primarily provide the decisive indications for an iron storage disease, but other examination methods are also used.

Blood tests

A large part of iron is also excreted after being ingested through food. Around two thirds of the remaining amount in the body is bound to the red blood pigment hemoglobin in order to ensure the oxygen supply to the body. Since free iron is harmful to the organism, the rest of the protein is coupled and stored in cells (mainly in the liver, spleen, intestine and bone marrow). An important protein molecule in this context is transferrin, which transports the bound iron to the corresponding organs and tissues, where it is then deposited together with the ferritin protein.

To determine an excess of iron, the determination of iron, ferritin and transferrin in the blood is therefore important. Three laboratory values ​​are usually determined for this: the ferritin value (serum or plasma ferritin), the transferritin saturation and the serum iron concentration.

The amount of ferritin in blood plasma or serum is usually proportional to the amount of iron stored in the body. It is important to note that the normal values ​​vary due to age, gender and also depending on the iron requirement. In addition, the reference values ​​can be different for different measurements. Elevated values ​​in adults are around more than two hundred micrograms per liter (women) or three hundred micrograms per liter (men). With primary hemochromatosis, however, the values ​​are often significantly increased with more than a thousand micrograms per liter. Seen in isolation, this value does not constitute a reliable diagnosis.

Transferritin saturation is considered the most meaningful value. If saturation is over forty-five percent in women and over fifty percent in men, there is a very high probability of an iron storage disease. Conversely, normal satiety largely excludes this disease.

The serum iron concentration has no direct correlation with the iron store. Most of the time, however, those affected also show elevated values ​​that are over one hundred and seventy micrograms per milliliter.

In many cases, these parameters are used to randomly detect iron storage disease in blood tests.

Genetic diagnostics

In order to investigate a further suspected disease, genetic tests can now be used to prove or exclude corresponding gene mutations in the HFE gene. The main focus of the “C282Y” mutation is on this, because homozygosity is present in up to ninety percent of those affected with classic hemochromatosis. This means that the paternal as well as the maternal HFE gene have the mutation. If this is confirmed, taking the other examination results into account, the diagnosis is considered to be certain.

In the event of a proven mutation, it is recommended to carry out a systematic screening of family members.

Liver examinations

If the previous results do not allow a reliable diagnosis, a detailed examination of the liver may be necessary in individual cases. Before that, there are a number of factors and risks to consider. If there is a tissue sample (biopsy) from the liver, in addition to the histological examination, a biochemical determination of the iron concentration in the liver is particularly meaningful (Berlin blue staining).

In general, no other examination methods using MRI and biomagnetometry are used.

If there is already organ damage or subsequent complaints, further examination methods are used to determine the respective condition.


Therapy generally aims to reduce iron levels. The possible measures are relatively simple and if they are started on time and taken regularly, they are also very effective. In addition to a low-iron diet, bloodletting therapy and drug therapy using iron chelators (chelation therapy) are recommended.

Bloodletting therapy

Bloodletting is a very old healing method, which is also one of the rejection procedures in holistic medicine. Treatment consists of eliminating excess iron along with the blood. The blood tests offer a corresponding follow-up. If a ferritin value of less than 50 micrograms per liter is reached, the bloodletting to maintain this condition is continued regularly but at larger intervals.

The Haemochromatosis Association Germany HVD e. V. recommends taking five hundred milliliters of blood a week at the beginning. This removes approximately two hundred and fifty milligrams of iron. Starting from an advanced stage, this procedure removes the iron stores after about one and a half years. After that, the required number of bloodletting treatments can be set individually to four to twelve per year.

If the hemoglobin level is low during therapy, this indicates anemia and the treatment may need to be interrupted. Alternatively, an erythrocytapheresis can be performed, in which only the red blood cells are removed.

Chelation therapy

Drug therapy is said to achieve increased iron excretion in the urine and stool. So-called chelating agents are used, which bind iron and are then excreted together with it (in particular deferoxamine or deferasirox).

This form of therapy is particularly suitable for hemochromatoses with anemia and for secondary forms. A number of indication conditions (including age) as well as possible risks and side effects must be clarified before starting therapy. The therapy is usually started with particularly high iron values.

Low iron diet

Accompanying the other therapeutic measures, giving up iron-rich foods (such as meat and offal) or reducing iron intake (for example, by drinking black tea with meals) can curb further iron accumulation in the body. In contrast to effective home remedies for iron deficiency, changing the diet is by far not sufficient for iron overload. Regular removal of iron is necessary for every diet and is usually sufficient.


If there is no cirrhosis of the liver yet, successful therapy enables normal life expectancy. As a rule, existing symptoms cannot be completely eliminated. If severe organ damage has already occurred, organ transplants are also necessary. (jvs, cs)

Author and source information

This text corresponds to the specifications of the medical literature, medical guidelines and current studies and has been checked by medical doctors.

Dr. rer. nat. Corinna Schultheis


  • Pschyrembel: Clinical dictionary. 267th, revised edition, De Gruyter, 2017
  • Herold, Gerd and co-workers: internal medicine. Self-published by Gerd Herold, 2019
  • German Society for Human Genetics and Professional Association of German Geneticists (ed.): Guideline for the molecular genetic diagnosis of hereditary hemochromatosis, status 2008, gfhev.de
  • Society for Pediatric Oncology and Hematology (Ed.): S2k guideline for the diagnosis and therapy of secondary iron overload in congenital anemia, as of June 2015, AWMF registry number. 025/029, awmf.org
  • Gattermann, Norbert: Therapy of secondary hemochromatosis, in: Deutsches Ärzteblatt International, Volume 106, Issue 30, 2009, pp. 499-504, aerzteblatt.de

ICD codes for this disease: E83.1ICD codes are internationally valid encodings for medical diagnoses. You can find yourself e.g. in doctor's letters or on disability certificates.

Video: Preventing and Diagnosing Iron Overload (October 2022).