Beta Thalassemia Test

Thalassemia is a hereditary condition of a low hemoglobin concentration (which is the protein that carries oxygen to tissues) resulting with severe anemia. The skin of these people is pale, and abnormal coagulation increase is observed. It is classified into two types according to the severity of symptoms. Cooley Anemia, a condution dependent on blood transfusions for treatment, is known as Thalassemia Major. The other type is Thalassemia Minor, which does not require a blood transfusion. The cases of Thalassemia are seen in Mediterranean countries, North Africa, the Middle East, India and Asia in hundreds of thousands of people.
Symptoms of the disease occur until the individual reaches the age of two. Anemia can be a life threat in children. These children show up with growth retardation.
Its biochemical mechanism of action is the hereditary absence of the beta chain of hemoglobin molecule. Its complete absence is called beta zero. The presence of a small amount is known as beta + Erythoblastic anemia, Mediterranean anemia and thalassemia beta are the other medical names of this condution.
Apart from this, when women and men genetically do not show symptoms of thalassemia, but they are carriers, the probability of children being born diseased is 25%, being carrier is %50, and being healthy is %25. If one of the partners is affected and the other is a carrier, the child becomes 100% carrier. If one is affected and the other is not, there is a 50% chance that the baby is affected or 50% carrier.
If the carrier gene has been detected in the parents, preimplantation is possible in in- vitro fertilization to choose the proper embryo by performing PGT (Preimplantation Genetic Analysis)
Especially in marriages between relatives, the risk increases even more.
Interpretation:The Beta Thalassemia test is a hemoglobin electrophoresis. After a low total hemoglobin in the blood count is detected, a definitive diagnosis is made by hemoglobin electrophoresis. In addition, there are more detailed genetic tests (such as Beta globin sequence analysis and Beta thalassemia Deletion test).
Sample: Arm venous plasma (EDTA). Nonfasting
Working day: Wednesday, Friday
Result Time: Next day at 6 PM