Content
Thalassemia, also known as Mediterranean anemia, is a hereditary disease characterized by defects in hemoglobin production, which is primarily responsible for transporting oxygen to tissues.
The clinical manifestations of thalassemia depend on the amount of chains affected in hemoglobin and the type of genetic mutation that has occurred, which can lead to fatigue, growth retardation, pallor and splenomegaly, for example.
Thalassemia is a genetic and hereditary disease, not contagious or caused by nutritional deficiencies, however, in the case of some types of thalassemia, treatment may involve an appropriate diet. See how the thalassemia diet 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 not normally 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;
- Short or labored breathing with ease;
- Pallor;
- Lack of appetite.
In addition, over time the disease can also cause problems in the spleen, liver, heart and bones, in addition to jaundice, which is the yellowish color of the skin and eyes.
Types of Thalassemia
Thalassemia 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 alpha hemoglobin chains, whereas 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 thalassemia trait: it is characterized by mild anemia due to the decrease of 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 serious forms of the disease;
- Bart's hemoglobin hydrops fetal syndrome: it is the most severe type of thalassemia, since it is characterized by the absence of all alpha genes, resulting in the death of the fetus even during pregnancy;
2. Thalassemia Beta
It is caused by a change in the beta-globin molecule of blood hemoglobins, and can be divided into:
- Thalassemia minor (minor) or Beta-thalassemia trait: which is one of the mildest forms of the disease, in which the person does not feel symptoms, and is therefore only diagnosed after hematological tests. In this case, it is not recommended to carry out specific treatment throughout life, but the doctor may recommend the use of folic acid supplement in order to prevent mild anemias;
- Beta-Thalassemia Intermediate: causes mild to severe anemia, and it may be necessary for the patient to receive blood transfusions sporadically;
- Beta thalassemia major or major: it is the most severe clinical picture of beta thalassemia, as there is no production of beta globin chains, requiring the patient to receive blood transfusions regularly to reduce 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 enlarged organs.
In cases of greater thalassemia, you may still see a slower than normal growth, making the child shorter and thinner than expected for their age. In addition, in patients who receive blood transfusions regularly, it is usually indicated to use medications that prevent excess iron in the body.
How to confirm the diagnosis
The thalassemia diagnosis is made by means of blood tests, such as blood count, in addition to hemoglobin electrophoresis, which aims to assess the type of hemoglobin circulating in the blood. See how to interpret hemoglobin electrophoresis.
Genetic tests can also be performed to assess 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, being possible to diagnose thalassemia only after six months of life.
How the treatment is done
The treatment of thalassemia must 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 experience symptoms, but must be aware of the worsening of anemia in cases such as surgery, serious illnesses, situations of high stress or during pregnancy.
In general, your doctor may recommend using folic acid supplements, a vitamin that stimulates blood cell production and helps to relieve anemia. See foods rich in folic acid and how food can help treat thalassemia.
2. Intermediate thalassemia
In general, the treatment of this form of thalassemia is done with blood transfusions during childhood, in case the child has growth retardation, or in situations in which 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 for life, every 2 to 4 weeks, depending on the level of the anemia. The sooner treatment is started, the less complications the disease will have in the future.
People with thalassemia major may end up with excess iron in the body due to frequent blood transfusions, so the doctor may also prescribe iron-chelating drugs, which bind to the body and prevent iron overload. These drugs can be given directly into the vein 5 to 7 times a week or through pills.
Possible complications
Thalassemia complications 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;
- Gall stones;
- Leg ulcers, due to lack of oxygen at the ends of the body;
- Kidney problems;
- Higher risk of thrombosis;
- Heart problems.
In severe cases, complications such as bone and tooth deformities, enlarged liver and spleen and heart failure can occur.