Thalassemia: Causes, Symptoms, Treatment
Thalassemia is an inherited blood disease that is not treatable. By thalassemia there is usually recognized a group of genetic abnormalities that are responsible for the change in hemoglobin synthesis. Hemoglobin consists of a pigment part, which is called heme and a protein. In turn, protein is a complex, which consists of several polypeptide chains: two alpha chains and two beta chains. When there is a failure in the synthesis of abnormal alpha chains, the disease is called alpha thalassemia. Accordingly, beta-thalassemia is a failure in the synthesis of beta chains, and it is the most common form of thalassemia.
Causes of thalassemia
Thalassemia is recognized as the most common hereditary disease in the world. This pathology is transmitted from parents to children only in case both parents are the carriers of the illness. The development of the pathology occurs due to the formation of point mutations in genes, which encode beta globin. Alpha-thalassemia is associated by many scientists with malaria, as it is most common in the Mediterranean and Africa. It is believed that the Plasmodium falciparum is the genetic cause of the failure.
The symptoms of thalassemia
Symptoms of the disease are rather bright. It is almost always accompanied by anemia. Typically, anemia develops at an early age, so the child can have mental disabilities and other physiological disorders associated with iron deficiency and the destruction of red blood cells. At an early age among many children there is also found hyperplasia of the brain, with leads to subsequent developmental disorders of the skull. It forms a square forehead, bite changes, the nose becomes saddle-shaped. Not rarely there occurs yellowness and spleen size increases. Patients are highly susceptible to infectious diseases. Often children with thalassemia die in the first year of life, but if the disease is mild, patients may live till the old age.
Treatment of thalassemia
Thalassemia is diagnosed exclusively by the means of laboratory tests. Red blood cells in the blood of patients with this disorder may have a much smaller size than the ones in the blood of healthy people. Molecular studies make it possible to establish the exact form of the disease. These days you can even diagnose the pathology in utero fetus.
Thalassemia is an incurable disease, which you can only control the duration of. The treatment is performed to keep anemia at an acceptable level. This result can be achieved only by transfusion of erythrocytes. The doctor calculates the dose for the patient so that hemoglobin does not fall below eighty-five. In some cases, at an early stage of disease development modern medicine recommends bone marrow transplantation.
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