General Practice 2022

Hemochromatosis: what é, symptoms and treatment

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Hemochromatosis: what é, symptoms and treatment
Hemochromatosis: what é, symptoms and treatment

Hemochromatosis is a disease in which there is excess iron in the body, favoring the accumulation of this mineral in various organs of the body and the emergence of complications such as cirrhosis of the liver, diabetes, darkening of the skin, heart failure, pain in the joints or dysfunction of the sex glands, for example.

Treatment for hemochromatosis is indicated by the hematologist, with phlebotomies, which are periodically removed from blood so that the iron deposited is transferred to the new red blood cells that the body produces, and may also be indicated in some cases the use of iron chelators, as they help in its elimination.

Symptoms of hemochromatosis

The symptoms of hemochromatosis arise when the levels of iron circulating in the blood are very high, which causes it to be deposited in some organs such as the liver, heart, pancreas, skin, joints, testes, ovaries, thyroid and pituitary. Thus, the main signs and symptoms that may arise are:

  • Fatigue;
  • Weakness;
  • Liver cirrhosis;
  • Diabetes;
  • Heart failure and arrhythmias;
  • Joint pain;
  • Absence of menstruation.

Also, in some cases, excess iron can cause sexual impotence, infertility and hypothyroidism. Learn about other symptoms that indicate excess iron.

How the diagnosis is made

The diagnosis of hemachromatosis is initially made through the evaluation of symptoms and blood tests indicated by the hematologist or general practitioner with the aim of evaluating the levels of iron present in the body, in addition to the concentration of ferritin and transferrin saturation, which are related to the storage and transport of iron in the body.

In addition, other tests may be requested to help investigate the causes of hemochromatosis, and may be recommended:

  • Genetic tests, which may show changes in the genes that cause the disease;
  • Liver biopsy, especially when it has not yet been possible to confirm the disease or to prove the deposit of iron in the liver;
  • Phlebotomy response test, which is done with blood draw and monitoring of iron levels, and is mainly indicated for people who cannot undergo a liver biopsy or where there are still doubts about the diagnosis;

The hematologist may also request measurements of liver enzymes, investigate the function or deposit of iron in the organs that may be affected, as well as exclude other diseases that can cause similar symptoms.

Hemochromatosis should be investigated in people who have suggestive symptoms, when there is liver disease, diabetes, heart disease, sexual dysfunction, or unexplained joint disease, and also in people who have first-degree relatives with the disease or who have changes in iron levels from blood tests.

Causes of hemochromatosis

Hemochromatosis can happen as a result of genetic alterations or be a consequence of diseases related to the destruction of red blood cells, which promotes the release of iron in the blood. Thus, according to the cause, hemochromatosis can be classified as:

  • Hereditary hemochromatosis,which is the main cause of the disease and which happens due to mutations in the genes responsible for the absorption of iron in the digestive tract, which are absorbed in large amounts, increasing the amount of circulating iron in the body;
  • Secondary or acquired hemochromatosis,in which iron accumulation occurs due to other conditions, mainly hemoglobinopathies, in which the destruction of red blood cells releases large amounts of iron into the bloodstream. Other causes are repeated blood transfusions, chronic cirrhosis, or misuse of anemia medications, for example.

It is important that the cause of hemochromatosis is identified by the doctor, so that the most appropriate treatment can be indicated, helping to prevent complications and relieve symptoms caused by excess iron.

How the treatment is done

Hereditary hemochromatosis has no cure, however, treatment can be done as a way to reduce iron stores in the blood and avoid depositing it in the organs. Thus, in these cases, the main form of treatment is phlebotomy, also called bleeding, in which part of the blood is removed so that the excess iron starts to compose the new red blood cells that the body produces.

This treatment has a more aggressive initial session, but maintenance doses are required, in which about 350 to 450 ml of blood are withdrawn 1 to 2 times a week. Then, the sessions can be spaced according to the results of the follow-up exams, indicated by the hematologist.

Another treatment option is the use of drugs known as iron chelators or "sequestrants", such as Desferroxamine, as they promote a decrease in circulating iron levels. This treatment is indicated for people who cannot tolerate phlebotomy, especially those with severe anemia, heart failure, or advanced cirrhosis of the liver.

See more details on treatment for excess iron in the blood.

How to eat

In addition to the treatment indicated by the doctor, it is also important to pay attention to food, and it is recommended to avoid excessive consumption of foods rich in iron. Some food-related guidelines are:

  • Avoid eating meat in large quantities, giving preference to white meat;
  • Eat fish at least twice a week;
  • Avoid eating iron-rich vegetables such as spinach, beets or green beans more than once a week;
  • Eat whole-grain bread instead of white or iron-fortified bread;
  • Eat cheese, milk or yogurt daily because calcium decreases iron absorption;
  • Avoid eating nuts such as raisins in large quantities because they are rich in iron.

In addition, the person should avoid alcoholic beverages in order to avoid liver damage and not consume vitamin supplements with iron and vitamin C, as this increases iron absorption.

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