Beta-Thalassemia

Thalassemia is a group of congenital microcytic hemolytic anaemia that is characterized by a defect in haemoglobin synthesis. Beta-thalassemia is more common in persons of Mediterranean, Middle Eastern, South Asian and Indian descent. Symptoms and signs are due to anaemia, hemolysis, splenomegaly, bone marrow hyperplasia, with multiple hemotransfusion, iron overload can be observed. Diagnosis is based on genetic investigation and quantitative analysis of haemoglobin structure. Treatment of severe forms may include hemotransfusion, splenectomy, chelator therapies, and stem cell transplantation.

Symptoms of the disease

In thalassemia, the usual symptoms for anaemia are observed: pale, shortness of breath, poor tolerability of physical activity, reduced appetite. With a large form of beta-thalassemia, anaemia usually begins to manifest at the age of several months.

Children often experience stunting. Abdominal pain can occur due to enlargement of the spleen and gallstones. Often there is an increase in the liver, jaundice of the skin and mucous membranes, bone deformities (due to impaired functioning of the bone marrow), bite abnormalities, heart failure and/or arrhythmias, etc.

Treatment of the disease

The effect of therapy will be significantly higher if the disease is diagnosed at an early stage, has not yet produced serious complications by entering other organs. An important role is played by the 100% reliability of the diagnosis, on which the tactics of the developed treatment depend, and as a result the patient’s health and life. The Tel Aviv Medical Clinic examines patients according to a complex scheme that eliminates errors.

For the treatment of anaemia in a large form of thalassemia, transfusions of the red blood cell mass are used – for example, once a month or two months. They allow you to maintain an acceptable level of haemoglobin. If the spleen (splenomegaly) is greatly enlarged, surgical removal may be recommended. Since we are talking about a genetically determined disease, no conservative therapy can lead to a complete cure. The only chance of normalizing hematopoiesis is given by allogeneic bone marrow transplantation. However, this is a complex procedure associated with a risk to life. In the presence of a compatible healthy donor among the patient’s siblings, transplantation is usually successful. Transplants from other donors are often very difficult. However, in recent years, new protocols have appeared that allow them to be carried out quite successfully.