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Thalassemia: EveryThing You Want to Know About.

on - June 19, 2020

Thalassemia

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Thalassemia is a genetic disease in the blood, caused by impaired production of the hemoglobin molecule, which is the central protein present in red blood cells, which carries oxygen from the lungs to the rest of the body. Hemoglobin consists of two types of protein chains, two alpha and two beta chains.


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There is a partial deficiency of alpha-thalassemia, in the amount of alpha-chains, while in beta-thalassemia there is a complete or partial deficiency of beta chains. This disease is an inherited recessive disease, that is, it is caused by the inheritance of two different genes from both parents, who carry Thalassemia disease.

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The carrier of thalassemia is gaining immunity against malaria, and the chances of surviving malaria are high in areas known to spread malaria; For this reason, this disease is prevalent in the tropics and near them. Thalassemia is particularly prevalent among the peoples of the Mediterranean basin, the Arab world and the peoples of Asia.

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Beta thalassemia: It is the most dangerous face of the disease, major thalassemia, which appears in the form of anemia (Read More About Anemia) that begins with childhood, needs to provide the patient with blood between short periods (a blood meal for several weeks), and accompanied by other difficult complications, which lead to the suffering of patients and reduce the life span. Patients also develop splenomegaly, osteoporosis and other bone problems, and delayed growth and development. The most dangerous phenomenon is the excess iron that accumulates in the body, as a result of frequent blood transfusions. Excess iron requires regular treatment, to prevent premature death due to heart problems; This disease can be cured by implanting a bone marrow from a healthy donor, which is appropriate for the patient in terms of tissue (usually a brother or sister).

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The carrier of the disease develops very slight anemia, called thalassemia minor; The main characteristic is the smaller than expected red blood cell volume (MCV); This condition, called anemia microcytic, appears as a result of other factors as well, such as iron deficiency. There are checks that help us to know, if Thalassemia Minor, is the cause of small blood cells anemia or other factors; But the results are not always accurate, therefore, and because of the importance of knowing the people who are carrying the disease, it is necessary to refer to a specialist.

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This disease occurs, due to more than 200 different mutation (defects) with the beta-globin gene, located on chromosome 11. Most of the mutations that cause beta-thalassemia are point mutations, that is, changing one letter of the genetic code. Different mutations cause beta chain dysfunction in different ways. It is the quantitative difference in the lack of production of protein chains, which indicates the risk of disease and is responsible for the differences found in laboratory tests; Hence, DNA tests by molecular methods, in order to detect mutations in patients and carriers, allow the severity of the disease to be predicted. With the help of these molecular methods, it is possible to diagnose the disease in the fetus early in pregnancy (prenatal diagnosis). If a fetus is detected, which can seriously ill, then it is his parents' right to stop the pregnancy. The prevention program, which includes pregnant surveys and prenatal examinations, has resulted in a significant decrease in the number of patients in many countries.

Alpha thalassemia: the alpha-faglobin gene is located on 16 chromosomes (chromosomes) in two copies; Hence, every human being has 4 copies of this gene. This disease is caused by a deficiency in the gene or by point mutations. There is a correlation between the difficulty of disease and the number of missing or dysfunctional genes due to the presence of certain mutations. The deficiency or defect of all four genes leads to the death of the fetus at the end of pregnancy, before birth. A deficiency or defect in three genes causes the disease to appear in its most difficult form, which is called hemoglobin H. It is similar to the symptoms of major thalassemia, but it is less dangerous. Anemia can be moderate or very difficult, but in most cases there is no need for a blood transfusion.

Carrying the disease due to a deficiency or defect in two genes, appears as a small-cell anemia; Carrying the disease due to a deficiency or defect in one gene, appears as small changes in red blood cells. Alpha thalassemia pregnancy is diagnosed conclusively, only by examining DNA. In cases of mild anemia, for a long time, which has not been cured by iron therapy, a DNA diagnosis can give a clear answer to the cause of anemia, help us how to treat, and deny the involvement of other factors, which can lead to anemia.




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