Narmin Verdiyeva, hematologist of the National Hematology and Transfusion Center of the Ministry of Health: as a result of preventive and educational measures, a serious decrease in the number of newborn thalassemia patients is observed compared to previous years.

- Mrs. Narmin, first of all, we would like to know what is thalassemia disease and what are the symptoms of the disease?

- Thalassemia is a hereditary blood disease caused by a genetic defect and characterized by chronic anemia. It is also called Mediterranean anemia because it is more common in Mediterranean countries. As a congenital disease, it can be found in children born as a result of the marriage of two carriers. Thalassemia carriers are usually detected during random examination or screening. In most cases, there are no clinical signs. If one of the persons to be married is a thalassemia carrier, there is a 50% chance that the children to be born will be healthy, and a 50% chance that they will be carriers. If both have thalassemia carriers, there is a 25% chance that the children will be healthy, 50% carriers, and 25% sick.
The disease usually manifests itself in the early stages of life (up to 1 year) with symptoms such as anemia, general weakness, loss of appetite, retardation of development, frequent infections, paleness and icterus of the skin, visible mucous membranes, growth in the liver and spleen. Diagnosis is confirmed by Hb electrophoresis analysis.

- How is the disease treated and what are its complications?

- Thalassemia patients receive hemotransfusion one or more times a month in order to improve their quality of life and ensure the normal functioning of vital organs. Hemotransfusion, started on time and carried out regularly, prevents or minimizes possible bone deformations, ensures a better and longer life of the patient. However, every time during hemotransfusion, along with red blood cells, a certain amount of iron is introduced into the body. The iron introduced into the body accumulates in various organs and tissues and disrupts their normal functioning, which leads to a number of unwanted complications. In order to prevent these complications, patients are prescribed the process of chelation therapy (removal of heavy metals from the bloodstream) in parallel. These medicines prevent complications related to iron overload by removing the iron from the body that is loaded into organs and tissues during hemotransfusion.
At present, four types of iron-repelling preparations are used all over the world and in Azerbaijan. Our patients are provided with these medicines at the expense of the state.

- Is it possible to be completely cured of the disease?

- The only radical treatment method of the disease is bone marrow transplantation. Since 2014, this method of treatment has been implemented in the Thalassemia section of the National Hematology and Transfusion Center within the framework of the State program. To date, more than 150 patients have been transplanted from a fully tissue-matched donor. Our results are quite satisfactory. However, our main goal is to become one of the World Donor Bank member countries by establishing a marrow donor bank in the future.

- What measures are taken to prevent thalassemia in our country? How is psychosocial support for patients organized?

- The requirements for the mandatory medical examination of those who want to enter into marriage in Azerbaijan came into force on June 1, 2015. Hb electrophoresis analysis was also included in the range of pre-marriage examinations. In the case of marriage of two carriers, the couple is educated by specialized specialists and informed about the necessity of prenatal diagnosis.
Psychological support is an integral part of treatment for both the thalassemia patient and the parents. In most cases, parents cannot accept the presence of this disease in their children during the initial diagnosis and experience a short-term shock. Psychological support is important for them to understand and accept the situation they are facing at this stage. Because the parent's initial reaction and, of course, their support for their child play a big role in how the thalassemia patient will fight this disease in the future. The role of highly qualified local and foreign psychiatrists and psychologists working in our center is indispensable. Regular and individual sessions are held with our patients and their parents. So, psychosocial support has a very positive effect in both hemotransfusion and chelation therapy.

- What are the statistics of people suffering from this disease in Azerbaijan?

- According to the World Health Organization, there are more than 250 million thalassemia carriers and about 300 thousand thalassemia patients in the world. If we look at the statistics of Azerbaijan, there are more than 3,000 patients with hemoglobinopathy officially registered in the Center of the National Hematology and Transfusion Center. As a result of preventive and educational measures, there is a significant decrease in the number of newborn thalassemia patients compared to previous years. In particular, the role of genetic counseling and prenatal diagnosis is very important. As a result of the examination carried out in the 14-16th week of pregnancy, it is possible to find out whether the fetus is healthy, a carrier or a patient with thalassemia.

- Finally, what can you say about the innovations in the treatment of thalassemia in the world?

- Currently, the attention of world scientists is focused on genetic engineering. The main goal of globin gene transfer is to ensure the synthesis of erythrocytes with normal hemoglobin of the thalassemia patient's own hematopoietic stem cells. The target is the transfer of a vector containing the globin gene into the patient's own hematopoietic stem cells. So is getting a healthy bone marrow that synthesizes all blood cells, including red blood cells. In this way, it is to free the patient from the high risks and complications of bone marrow transplantation and bring him back to a healthy life.