Hemochromatosis: what it is, causes, symptoms and treatment

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

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

What is hemochromatosis?

Hemochromatosis is an alteration that is characterized by poor metabolization of iron in our body. Needless to say, this is an essential component in our body if we want all our organs to function correctly. It is estimated that the correct amount of iron in blood should be around at least about 4 or 5 grams, an amount that is segregated thanks to hemoglobin.

However, this condition is characterized when the body is not able to break down this element and therefore causes the iron levels to increase excessively throughout the 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 about one in 200-300 people and is much more common in men because women have other ways to get rid of iron thanks to pregnancy or the appearance of the rule.

What can be the causes of hemochromatosis?

Now that we have already known what hemochromatosis consists of, then we are going to explain 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 quantities, it is possible that the person in question suffers after hemochromatosis.
  • Hepatitis C. This liver virus can also cause blood iron levels to skyrocket.
  • Crowd of blood transfusions. When a person is receiving a multitude of transfusions for any reason, this process also causes iron deposits to begin to accumulate throughout the intestinal calculus.
  • Deficit in transferrin production. Transferrin is a protein that is responsible for transporting all the iron through the body. However, the 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. Therefore, it is very important to treat it as soon as possible. Among the most common symptoms, include the following:

  • Damage to the liver: 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 accumulate through the different cardiac muscles, something that can later cause mild heart failure. The clearest symptoms of this condition are extreme tiredness and edema of the feet.
  • Hyperpigmentation of the skin: Most cases of hemochromatosis are usually translated later in cases of hyperpigmentation of the skin to very dark tones. It is also normal to see pictures of alopecia or hair loss.

Types of hemochromatosis

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

Hereditary hemochromatosis

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

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

In the case of hereditary hemochromatosis, two mutations have been identified in the HFE protein gene, known as C282YY H63D. According to scientific studies, it is estimated that in Europe between 60 to 100% of affected patients inherit a C282Y gene from both parents (homozygous C282Y), or inherit a H63D gene from one and a C282Y gene from the other (double heterozygotes).

Acquired hemochromatosis

Also known as secondary hemochromatosis, is caused by a wide variety of disorders and conditions, there being no 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.
  • Consumption of chronic alcohol that affects the liver.
  • Performing multiple blood transfusions.
  • Congenital deficiency of transferrin.
  • Porphyria cutaneous tarda.
  • Neonatal hemochromatosis.
  • Aceruloplasminemia.
  • Excessive intake of iron

What treatment is there for hemochromatosis?

As hemochromatosis is characterized by too high a dose of iron in our body, obviously it will be necessary to reduce the levels of this component. For this, the following indications must be taken into account:

  • Reduce alcohol consumption The consumption of some drinks such as red or rosé wine can cause the appearance of hemochromatosis. Therefore, it is highly recommended to stop taking them from the moment the first symptoms appear.
  • Avoid white fish and seafood. Fish is also an inexhaustible source of iron. Therefore, it will be necessary to stop taking it for a while to reduce iron levels. The same applies to 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 that later we ingest this element accidentally.
This article is published for informational purposes only. It can not and should not replace the consultation with a Physician. We advise you to consult your Trusted Doctor. ThemesLiver

Mayo Clinic: William Palmer, M.D. - Hereditary Hemochromatosis (May 2022)