What is Mediterranean anemia (thalassemia)? What are the symptoms and treatment methods?

Mediterranean anemia is medically called beta thalassemia. It is a type of anemia that is genetically transmitted from mother and father. It is common in Mediterranean countries including Turkey.

What is Thalassemia?

Red blood cells contain a substance called hemoglobin. The function of hemoglobin is to carry oxygen to the tissues. Hemoglobin consists of two parts called Heme and Globin. Hemoglobin contains chains called alpha, beta, gamma and delta. Thalassemia occurs as a result of a structural defect in these chains. Beta thalassemia occurs as a result of a production defect in the beta chain and is called Mediterranean anemia.

Mediterranean anemia carrier

In this group, called thalassemia minor, one of the parents carries the diseased gene and passes it on to their child. The disease progresses with mild anemia. The blood findings of the disease are very similar to iron deficiency anemia and iron treatment may be applied mistakenly. In fact, serum iron is normal or high in Mediterranean anemia carriers. Diagnosis is made with a test called hemoglobin electrophoresis. In this test, the HbA2 level is between 3-7%. Carriage of Mediterranean anemia is not considered a disease. If an individual who is a carrier of Mediterranean anemia marries someone like him, there is a 25% chance of having children with Mediterranean anemia.

Mediterranean anemia (Thalassemia major)

This is the group of patients with severe thalassemia. Usually the first signs of the disease appear in the first 6 months of life. 6-month-old babies with Mediterranean anemia have significant anemia. Frequent blood transfusions are required to correct this anemia. The life expectancy of patients who cannot receive regular blood transfusions is several years. In these patients, the root of the nose is sunken and the cheekbones are protruding. The front teeth are projected forward. The head structure is square shaped. The liver and spleen are enlarged. As a result, the abdomen appears swollen and the height remains short. Puberty is delayed. Diabetes may develop due to pancreatic insufficiency. Heart failure may occur. In addition, bone fractures may occur frequently and iron accumulation may occur in the tissues due to increased iron in the blood.

In severe Mediterranean anemia, the blood hemoglobin level is significantly low. In hemoglobin electrophoresis, 50-60% hemoglobin F is seen.

Treatment of thalassemia disease

Thalassemia carriers do not require treatment. Severe thalassemia patients need blood transfusion every 3-4 weeks. Drug treatment is applied to remove the increased iron due to continuous blood transfusion. If the spleen is overgrown, it can be removed surgically. Appropriate vaccines are given to patients whose spleen has been removed and protection is provided with penicillin.

Bone marrow transplantation has been performed for thalassemia major patients in recent years. 70-80% of patients with a suitable donor can be treated.