Thalassemia

What is it about ?

Thalassemias are common hereditary diseases in the Mediterranean region. The word is derived from the Greek “thalassa”, which means “sea”. In these conditions, hemoglobin production is impaired by a birth defect.

Hemoglobin is a protein found in red blood cells. Hemoglobin fixes oxygen. It contains iron. Due to the abnormality, the red blood cells are smaller and more fragile and break down prematurely (hemolysis). It results anemia and iron deficiency (hemolytic anemia).

Depending on the severity of the condition, we distinguish:

• Minimal thalassemia: there is an inherited abnormality, but without changes in the blood and without symptoms.
• Thalassemia minor: red blood cells are too small, but there are no symptoms.
• Thalassemia intermediate and major: there is a chronic breakdown of abnormal red blood cells, accompanied by symptoms.

Oddly enough, these diseases also offer an advantage. Because red blood cells are abnormal, they cannot be infected with the malaria (malaria). Therefore, people with thalassemia cannot contract malaria (malaria).

Where and with whom does it occur?

Thalassemia occurs most often in people (originally) from the Mediterranean region and parts of Africa, India and the Far East.

How to recognize it?

Thalassemia minor and thalassemia minor do not have symptoms.

Thalassemia intermedia and thalassemia major cause moderate to severe breakdown of red blood cells. This degradation is associated with symptoms ofanemia, such as tired and a pallor. The accumulation of degradation products of red blood cells can also lead to jaundice. If so, the whites of the eyes and the skin are yellow.

How is the diagnosis made?

The doctor can diagnose thalassemia based on a blood test to determine the number and shape of red blood cells, as well as the presence of red blood cell breakdown products. Blood iron levels and iron stores are also measured.

In doubtful cases, special blood tests may be done to better assess hemoglobin (liquid chromatography). Genetic testing is also possible.

What can you do ?

In our country, cases of thalassemia mainly concern migrants who come from regions where the disease is present. You are not at risk of contracting the disease while traveling to these countries, but only through genetic predisposition. If you want to have children, you can benefit from a genetic counseling to assess the risk that you or your partner could pass thalassemia to your child.

With thalassemia intermedia or thalassemia major, iron supplements are of no use because red blood cells cannot absorb iron properly.

What can your doctor do?

People with thalassemia intermediate and major are treated in specialized centers. In the presence of a serious anemia, the doctor may prescribe a transfusion red blood cells.

Iron therapy (iron therapy) will increase the buildup of iron in the blood and therefore makes no sense. Asymptomatic carriers do not require treatment or follow-up.

Source

Foreign clinical practice guide ‘Thalassemias’ (2012), updated on 13.01.2017 and adapted to the Belgian context on 11.04.2019 –www.ebpnet.be