General Practice 2022

Thalassaemia: what é, symptoms and treatment optionsç&otyld;

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Thalassaemia: what é, symptoms and treatment optionsç&otyld;
Thalassaemia: what é, symptoms and treatment optionsç&otyld;

Thalassaemia, also known as Mediterranean anemia, is an inherited disease characterized by defects in the production of hemoglobin, which is primarily responsible for transporting oxygen to the tissues.

Clinical manifestations of thalassemia depend on the number of affected chains in hemoglobin and the type of genetic mutation that occurred, which can lead to fatigue, growth retardation, pallor and splenomegaly, for example.

Thalassaemia is a genetic and hereditary disease, not being contagious and not caused by nutritional deficiencies, however, in the case of some types of thalassemia, the treatment may involve an adequate diet for the case. See how the diet for thalassemia is made.

Main symptoms

In general, the minor form of thalassemia, which is the mildest form of the disease, causes only mild anemia and pallor, which is usually not noticed by the patient. However, the major form, which is the strongest type of the disease, can cause:

  • Fatigue;
  • Irritability;
  • Weak immune system and vulnerability to infections;
  • Growth delay;
  • Easy short or gasping breaths;
  • Pale;
  • Lack of appetite.

In addition, over time the disease can also cause problems with the spleen, liver, heart and bones, as well as jaundice, which is the yellow color of the skin and eyes.

Types of Thalassemia

Thalassaemia is divided into alpha and beta according to the affected globin chain.In the case of alpha thalassemia, there is a decrease or absence of production of hemoglobin alpha chains, while in beta thalassemia there is a decrease or absence of production of beta chains.

1. Alpha Thalassemia

It is caused by a change in the alpha-globin molecule of blood hemoglobins, and can be divided into:

  • Alpha thalassemic trait: is characterized by mild anemia due to a decrease in only one alpha-globin chain;
  • Hemoglobin H disease: which is characterized by the absence of production of 3 of the 4 alpha genes related to the alpha globin chain, being considered one of the severe forms of the disease;
  • Bart's Hemoglobin hydrops fetalis syndrome: is the most severe type of thalassemia as it is characterized by the absence of all alpha genes, resulting in fetal death even during pregnancy;

2. Beta Thalassemia

It is caused by a change in the beta-globin molecule of blood hemoglobins, and can be divided into:

  • Thalassaemia Minor (Minor) or Beta Thalassemia Trait: which is one of the mildest forms of the disease, in which the person does not experience symptoms and is therefore only diagnosed after hematological tests. In this case, specific lifelong treatment is not recommended, but the doctor may recommend the use of a folic acid supplement with the aim of preventing mild anemia;
  • Beta-Thalassaemia Intermediate: causes mild to severe anemia, and the patient may need to receive blood transfusions sporadically;
  • Beta thalassemia major or major: is the most serious clinical picture of beta thalassemias, as there is no production of beta globin chains, and the patient must receive blood transfusions regularly to decrease the degree of anemia. Symptoms begin to appear in the first year of life, being characterized by pallor, excessive tiredness, drowsiness, irritability, prominent face bones, poorly aligned teeth and swollen belly due to the enlargement of organs.

In cases of thalassemia major, you can still see slower than normal growth, causing the child to be shorter and thinner than expected for their age. In addition, in patients who receive blood transfusions regularly, the use of drugs that prevent excess iron in the body is usually indicated.

How to confirm the diagnosis

The diagnosis of thalassemia is made through blood tests, such as the blood count, in addition to hemoglobin electrophoresis, which aims to assess the type of hemoglobin circulating in the blood. Here's how to interpret hemoglobin electrophoresis.

Genetic tests can also be performed to evaluate the genes responsible for the disease and differentiate the types of thalassemia.

The heel prick test should not be performed to diagnose thalassemia, because at birth the circulating hemoglobin is different and has no changes, and the diagnosis of thalassemia is only possible after six months of life.

How the treatment is done

Thalassemia treatment should be guided by a doctor and usually varies according to the severity of the disease:

1. Thalassemia minor

This is the mildest type of the disease and does not require specific treatment. In general, the person does not feel symptoms, but should be aware of the worsening of anemia in cases such as surgery, serious illness, high stress situations or during pregnancy.

In general, your doctor may recommend taking supplements of folic acid, a vitamin that stimulates blood cell production and helps relieve anemia. See foods rich in folic acid and how diet can help treat thalassemia.

2. Thalassemia intermedia

In general, the treatment of this form of thalassemia is done with blood transfusions during childhood, if the child has growth delays, or in situations where there is an enlarged spleen and liver.

3. Thalassemia Major

It is the most serious form of the disease, in which the person needs to receive blood transfusions throughout life, every 2 to 4 weeks, depending on the level of anemia. The earlier the treatment is started, the fewer the complications of the disease for the future.

People with thalassemia major may end up having too much iron in the body due to frequent blood transfusions, so the doctor may also prescribe iron chelating drugs, which bind iron in the body and prevent its excess. These medications can be given directly into a vein 5 to 7 times a week or as pills.

Possible complications

The complications of thalassemia arise only in the intermediate and severe forms of the disease, especially when it is not treated properly.

In the intermediate form of the disease, complications can be:

  • Deformities in bones and teeth;
  • Osteoporosis;
  • Gallbladder stones;
  • Leg ulcers due to lack of oxygen in the extremities of the body;
  • Kidney problems;
  • Increased risk of thrombosis;
  • Heart problems.

In severe cases, complications such as bone and tooth deformities, enlarged liver and spleen, and heart failure may arise.

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