Health and MedicineDiseasesHemochromatosis: what is it, causes, symptoms and treatment?

Hemochromatosis: what is it, causes, symptoms and treatment?

Hemochromatosis is a disease that affects iron metabolism, causing too much iron in the body. Find out what causes it, symptoms and treatment.

There is no doubt that the liver is one of the most important organs in our body, mainly because without it -and the very important functions it performs- we could not survive.  Among these main functions we can mention the storage and release of sugar in the blood, synthesizing glycogen, processing alcoholic beverages and various medications, removing impurities from the blood…

However, there are a number of liver diseases that can obviously affect the liver, especially directly. A good example is hemochromatosis, a disease that can be inherited or acquired.

What is hemochromatosis?

Hemochromatosis is an alteration characterized by poor iron metabolism in our body. It goes without saying that this is an essential component in our body if we want all our organs to function properly. It is estimated that the correct amount of iron in the blood should be around at least 4 or 5 grams, an amount that is secreted thanks to hemoglobin.

However, this condition is characterized when the body is not able to break down this element and therefore causes iron levels to increase excessively throughout the entire digestive tract. This is something that can have a very negative effect on our health and especially on the functioning of the liver.

Hemochromatosis is a disease that occurs in people of all ages. It can affect around one in 200-300 people and is much more common in men since women have other ways to get rid of iron thanks to pregnancy or the appearance of the period.

What can be the causes of hemochromatosis?

Now that we have known what hemochromatosis consists of, then we are going to break down what its causes may be:

  • Excessive intake of wine. This alcoholic beverage is characterized by having large doses of iron. Therefore, if it is taken in too high amounts, it is possible that the person in question will later suffer from hemochromatosis.
  • Hepatitis C. This liver virus can also cause blood iron levels to skyrocket.
  • Lots of blood transfusions. When a person is receiving multiple transfusions for whatever reason, this process also causes iron deposits to begin to accumulate throughout the intestinal stone.
  • Deficit in the production of transferrin. Transferrin is a protein that is responsible for transporting all the iron through the body. However, problems appear when the person is not able to secrete this protein naturally, causing a clear case of hemochromatosis.

Symptoms of hemochromatosis

The symptoms of hemochromatosis can vary depending on how advanced the disease is.  Hence, it is very important to treat it as soon as possible. Among the most common symptoms, the following should be highlighted:

  • Liver damage: One of the most common symptoms in hemochromatosis is what is known as hepatomegaly. This means that the left lobe of the liver becomes inflamed, something that can later cause ascites, edema and even jaundice.
  • Excess iron can also build up through the various heart muscles, which can then lead to mild heart failure. The clearest symptoms of this condition are extreme tiredness and edema in the feet.
  • Skin hyperpigmentation: Most cases of hemochromatosis usually translate later into cases of hyperpigmentation of the skin to very dark tones. It is also normal for alopecia or hair loss to appear.

Types of hemochromatosis

As we indicated at the beginning of this note, there are two different types of hemochromatosis: one hereditary (the most common) and another acquired. We discover their main differences below.

Hereditary hemochromatosis

Hereditary hemochromatosis is a genetic disease of the autosomal recessive type  (or recessive inheritance), which means that to manifest it, it must be inherited from the father and the mother; that is, both parents must carry the gene.

It is estimated that one in 20-25 people carries the gene, which means that we are facing a hereditary liver disease that is actually very common.

In the case of hereditary hemochromatosis, two mutations have been identified in the HFE protein gene, known as C282Y and H63D. According to scientific studies, it is estimated that in Europe between 60% and 100% of affected patients inherit a C282Y gene from both parents (C282Y homozygotes), or they inherit an H63D gene from one and a C282Y gene from the other. (Double heterozygotes).

Acquired hemochromatosis

Also known as secondary hemochromatosis, it is caused by a wide variety of disorders and conditions, without a single or specific cause, which generate an increase in iron deposits in the body.

Among the causes that most commonly cause the appearance of this hemochromatosis, we can mention:

  • Liver diseases, such as alcoholic liver disease or hepatitis C.
  • Chronic alcohol consumption that affects the liver.
  • Performing multiple blood transfusions.
  • Congenital transferrin deficiency.
  • Porphyriacatenaetrade.
  • Neonatal hemochromatosis.
  • Aceruloplasminemia.
  • Excessive intake of iron.

What treatment is there for hemochromatosis?

As hemochromatosis is characterized by an excessively high dose of iron in our body, obviously the levels of this component will have to be reduced. For this, the following indications must be taken into account:

  • Reduce alcohol consumption. The consumption of some beverages such as red or rosé wine can cause the appearance of hemochromatosis. Hence, it is highly recommended to stop taking them from the precise moment that the first symptoms appear.
  • Avoid white fish and shellfish. Fish is also a powerhouse of iron. Therefore, it will be necessary to stop taking it for a while to reduce iron levels. The same goes for shellfish or vitamin supplements that contain iron or vitamin C.
  • Stay away from utensils made with iron. And it is that its handling or manipulation can cause us to later ingest this element accidentally.


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