Yeditepe University Hospitals Infectious Diseases and Clinical Microbiology specialist Prof. Dr. Meral Sönmezoğlu talked about thalassemia.
"The prevalence of consanguineous marriages in our country increases the frequency of thalassemia, which is a genetically transmitted disease, and unfortunately, hundreds of diseased children are born every year," said Prof. Dr. Meral Sönmezoğlu gave the following information about the symptoms of the disease:
In the thalassemia disease group, which is among the diseases called “hemoglobinopathy”, Beta Thalassemia is the most common in our country. Beta Thalassemia is known as “Mediterranean Anemia” in our country. This disease causes a decrease in the oxygen transport of the blood to the tissues and organs due to the insufficiency and disorder in the production of hemoglobin. As a result, patients experience pallor, weakness, fatigue, palpitations, and growth retardation. Disease-specific enlargement of the facial bones occurs when the bone marrow is overstimulated and overworked for blood production.”
Stating that screening programs are extremely important because his treatment is very tiring for the patient and his family, Prof. Sönmezoğlu gave the following information about the studies carried out on this subject in our country:
The frequency of beta-thalassemia carriers in the healthy Turkish population is 2,1 percent, and there are approximately 1 million 400 thousand carriers and 4 thousand 513 patients. The approximate total number of patients with thalassemia is around 6 thousand. Hereditary Blood Diseases Regulation was published by the Ministry of Health on 24.10.2002. Hemoglobinopathy Control Program was initiated in 33 provinces determined by the Ministry to prevent hereditary blood diseases including thalassemia. While screening was carried out in 2013 provinces in 41, it has become mandatory for all couples to have this test before marriage in 2018 cities with a 100-day action plan since 81. Since November 01, 2018, the program has been started to be implemented by family physicians as Premarital Hemoglobinopathy Screening Program in 81 provinces. With these studies, the number of children born with thalassemia dropped from 300 to 30 a year.”
Stating that thalassemia treatment differs according to the complaints and symptoms experienced by the patient, Prof. Dr. Meral Sönmezoğlu, “The most applied and effective way for anemia is blood transfusion. Patients with thalassemia major often receive this treatment every month. Iron accumulated in the body due to transfusions is removed with special iron binding therapy (Chelation therapy). Today, stem cell and gene therapy, prenatal diagnosis and preimplantation genetic diagnosis methods are also used.
Pointing out that in addition to the difficulty of treatment for thalassemia patients, infections also pose a significant risk, Prof. Dr. Meral Sönmezoğlu said, “Infections are the second most common cause of death in thalassemia patients and one of the leading causes of morbidity. Among the predisposing factors in thalassemia patients are deep anemia, iron overload, removal of the spleen and some immune disorders. The main agents of bacterial infections are Klebsiella spp in Asian countries and Yersinia enterocolitica in western countries.
Mentioning that thalassemia major patients receive two units of blood transfusion almost every month throughout their lives, this treatment is also a risk factor for infection transmission. Dr. Meral Sönmezoğlu continued her words as follows:
“The most common diseases are viral infections. Although blood donors are questioned and screened for diseases and safe blood supply is ensured, this risk still exists as in every country in the world. Therefore, all thalassemia patients should be vaccinated against hepatitis B disease, which can be prevented by vaccination. Also to prevent infections: Patients with thalassemia should be treated immediately when they have a febrile illness. It should be prevented from turning into a systemic disease. If the spleen of thalassemia patients is removed, they should be vaccinated against encapsulated bacteria. With this. Thalassemia patients should not consume raw meat, milk, shellfish and fresh cheese, which can be sources of infection.
Reminding that since thalassemia carriers in the community have a normal appearance, it will not be possible to understand whether they are carriers unless special thalassemia tests are performed, Infectious Diseases and Medical Microbiology specialist Prof. Dr. Sönmezoğlu said, “For this reason, young people living in risky areas should definitely have a thalassemia test before marriage.”
In the hemoglobinopathy control program; Stating that the screening of couples who will marry before marriage and the screening of other family members and relatives of individuals who are sick or carriers, Prof. Dr. Sönmezoğlu said, “In addition, as parents of the future, it is also important to implement Hemoglobinopathy education and screening programs for students studying in secondary education. Apart from these, Hemoglobinopathy test can be applied at the request of the physician or the person. he said.