An inherited blood disorder, Thalassemia is characterized by less hemoglobin and fewer red blood cells in your body than normal and its prevalence is higher in the Mediterranean region. Recent studies in Turkey introduce better treatment opportunities with new drugs
Thalassemia (Mediterranean anemia) is a hereditary blood disease commonly seen in those of Mediterranean origin. It emerges with a mutation in the hemoglobin in the red blood cells as a result of gene disruptions. This deterioration prevents blood, which is tasked with carrying oxygen throughout the body, from carrying oxygen, and causes anemia.
Thalassemia is a very serious disease that can result in death if not treated properly. Paleness in the skin is among the most important symptoms of the said disease in addition to fatigue and lethargy. It emerges at infancy. In case these symptoms are intense, a specialist should be contacted and a simple blood test should be conducted.Thalassemia is tested with a complete blood count and a blood test that determines the proportion of the hemoglobin types present in the blood. If hemoglobin A2 is present at a higher rate in blood than expected, the person is identified as a carrier of thalassemia. Thalassemia major and thalassemia minor can be diagnosed – and distinguished from one another – not only through conventional clinical and blood testing, but also through molecular and genetic tests. These tests permit accurate diagnosis to be made at any time, even before birth. It is commonly found in people of Mediterranean descent, such as Italians and Greeks, as well as those from the Arabian Peninsula, Iran, Africa, Southeast Asia and southern China.
The treatment of thalassemia starts with blood transfusion and supportive medication. If the bone marrow, which can be taken from healthy individuals with compatible tissues, is found, a marrow transplant can also be performed. It is crucial to make an early decision. Too many blood transfusions may make a marrow transplant difficult. The rate of success for the treatment of thalassemia in Turkey is very high with approximately 70-80 percent.
The disease is not contagious. It passes from a carrier mother and father to the child through genetic transmission, meaning that it is a genetic feature transmitted from parents just like hair color and eye color. Every feature develops with a pair of genes inherited one from the mother and the other from the father.
Parents can transfer any of this gene pair to the child. If the mother and father are carriers there is a 25 percent chance that the children are sick. So every child born to these couples will have a 25 percent chance of being sick and 50 percent chance of being a carrier. The risk of delivering a sick child is the same in every pregnancy.
However, it is not enough for only one of the parents to be sick for one to become a carrier. Both parents must carry the disease. If one of the parents suffers from thalassemia, then this person is defined as carrier. Children with a single parent suffering from the disease are usually carriers and do not have the disease. Turkey is a Mediterranean country and kinship marriages are frequent. Close relatives carry the common gene in particular. Degenerated genes are also included in this situation, and when they come together, it is inevitable for the parents to pass them on to their children. Recent studies indicate that more than 1.5 million people have been diagnosed with thalassemia in Turkey.
Thalassemia can be detected and treated prenatally in the mother’s womb. Hence, doubtful couples should make it a point to take a blood test to determine if they are carriers. When the couples, who are determined to be carriers, want to have children, the Ministry of Health leads them to centers for genetic counseling and advanced genetic tests and helps them bring healthy children to the world through prenatal genetic diagnosis methods.
The Preimplantation Genetic Diagnosis (PGD) method has been successfully applied for about 10 years and healthy babies are selected before being placed in the mother’s womb. The egg is fertilized by the sperm with a microinjection in a laboratory dish by means of the In Vitro Fertilization (IVF) method and embryos are obtained.
Cells taken from this embryo by biopsy under microscope are examined for genetic disease. Healthy embryos are transferred to the mother. Thus, the baby is protected from this disease without being placed in the mother’s womb. In November, Turkish scientists have developed a new drug molecule to be used in the treatment of thalassemia. Following a three-year study by Üsküdar University in collaboration with Sabancı University, a new chelating drug molecule from microalgae has been developed. The European Patent has been applied to transform the drug candidate molecule into a drug that prevents iron overload, which can lead to death in patients with thalassemia.