What is Mediterranean Anemia (Thalassemia)? What Are Its Symptoms and Treatment Methods?

Mediterranean anemia, medically known as beta thalassemia, is a type of anemia that is genetically inherited from parents. It is common in Mediterranean countries, including Turkey.

What is Thalassemia?

Red blood cells contain a substance called hemoglobin, whose function is to transport oxygen to tissues. Hemoglobin consists of two parts, known as Hem and Globin, and has chains called alpha, beta, gamma, and delta. Thalassemia occurs when there is a defect in the production of these chains. A defect in the beta chain results in beta thalassemia, commonly referred to as Mediterranean anemia.

Mediterranean Anemia Carrier Status

In this group, known as thalassemia minor, one parent carries the defective gene and passes it to the child. The condition presents with mild anemia. Blood findings for this condition are similar to iron deficiency anemia, and there may be a misdiagnosis leading to unnecessary iron treatment. However, in Mediterranean anemia carrier status, serum iron is normal or elevated. Diagnosis is confirmed by a test called hemoglobin electrophoresis, which shows an HbA2 level between 3-7%. Carrier status is not considered a disease. If a person with Mediterranean anemia carrier status marries another carrier, there is a 25% chance of having a child with Mediterranean anemia.

Mediterranean Anemia (Thalassemia Major)

This is the group with severe thalassemia. Symptoms typically appear in the first six months of life. Six-month-old infants with Mediterranean anemia have significant anemia, requiring frequent blood transfusions. Without regular transfusions, life expectancy is only a few years. Physical characteristics in these patients may include a flattened nose bridge, prominent cheekbones, protruding front teeth, a square-shaped head, an enlarged liver and spleen, a distended abdomen, short stature, delayed puberty, and potential complications like diabetes due to pancreatic insufficiency, heart failure, and frequent bone fractures. There can also be iron accumulation in tissues due to increased iron levels in the blood.

In severe Mediterranean anemia, blood hemoglobin levels are significantly low, and hemoglobin electrophoresis shows 50-60% hemoglobin F.

Treatment of Thalassemia

Carriers of thalassemia do not require treatment. Patients with severe thalassemia need blood transfusions every 3-4 weeks. To remove excess iron from the body due to frequent transfusions, medication is administered. If the spleen is excessively enlarged, it may be surgically removed. Patients whose spleens are removed receive appropriate vaccinations and are protected with penicillin.

In recent years, bone marrow transplants have been performed for patients with thalassemia major. About 70-80% of patients with a suitable donor can be treated.