Thalassemia: symptoms, types and how the diagnosis is made

Thalassemia, also known as Mediterranean anemia, is an inherited disease characterized by a defect in hemoglobin synthesis, resulting in functional changes. This is because in thalassemias one or more globin chains that make up hemoglobin are affected, interfering with the process of transporting oxygen to the tissues.

The clinical manifestations of thalassemia depend on the amount of chains affected and the type of genetic mutation that has occurred, which can lead to fatigue, growth retardation, pallor and hepatomegaly, 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 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; Stunted growth; Short or wheezing easily; Paleness; 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: 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 Thalassemic beta 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 major thalassemia, you can 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, the use of medications that prevent excess iron in the body is usually indicated.

How the diagnosis is made

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 to 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 the third month of life.