The doctor listed the symptoms of thalassemia.

Thalassemia, or, as it is also called, Mediterranean anemia, is a group of blood diseases that are inherited. Olga Ulankina, an expert physician at the Gemotest laboratory, told Izvestia on February 5 what the symptoms are and how dangerous this disease is.

"Before we talk about thalassemia, we need to understand what hemoglobin is. Its molecule consists of heme (the non-protein part) and globin - a protein, which in its structure resembles four intertwined chains. The HBB gene is responsible for synthesizing the chains. If there is a breakage in the gene, globin chains will be formed in negligible amounts or not at all. As a result, hemoglobin will not be able to function properly - oxygen delivery to tissues and organs will be impaired, and a large amount of iron will accumulate in the body," the doctor explained.

Thalassemia is inherited by the autosomal recessive type: for the disease to manifest itself, the child must receive "broken" genes from both the father and the mother. In rare cases, the type of inheritance is autosomal dominant. To develop the disease, it is enough to get one "broken" gene from the father or from the mother, the doctor clarified.

"Usually the symptoms of thalassemia begin to appear in children at a very early age - starting from 6-12 months. Characteristic signs of the disease include anemia, pallor or jaundice of mucous membranes, skin, enlarged spleen, curved spine, thickened nose bridge, quadrangular ("tower") skull, long non-healing ulcers (their favorite localization - shins)," - said Ulankina.

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The disease can be mild, moderate or severe. In the first case, the main signs of the disease will be anemia and increased fatigue. In the second - moderate anemia, enlargement of the spleen, sometimes - the liver. In the severe form of thalassemia, a person will regularly - once a month - will require a blood transfusion, the doctor pointed out.

"To make an accurate diagnosis of thalassemia is helped by genetic research. In the arsenal of modern laboratories there are tests that can not only detect this disease, but also determine its type, as well as assess the risk of developing the disease in children. That is why it is advisable to take genetic tests for both future parents, even at the stage of planning pregnancy. Especially if there is a history of chronic anemia (it may be a consequence of impaired globin synthesis), "- said Ulankina.

According to the expert, if thalassemia runs in a mild form, treatment is not required in most cases. With a moderately severe form may recommend transfusion of red blood cells. In the severe form of the disease transfusions (transfusions) of red blood cells will have to be carried out regularly to maintain hemoglobin at the level of 90-100 g / l. The most radical method of thalassemia treatment so far remains bone marrow transplantation.

Earlier, on January 28, the expert of the laboratory "Hemotest", doctor-gastroenterologist Ekaterina Kashukh told "Izvestia" that due to poor assimilation of trace elements, a person may have iron deficiency, which leads to anemia. This condition is characterized by dry and pale skin, brittle hair and nails. In addition, an imbalance of important nutrients can eventually lead to a weakening of the immune system.