Sickle-cell anemia

hemoglobinopathy is the most common anomaly of hemoglobin structure. In the case of homozygous carriage of the mutant gene of this disease, it is said about sickle cell anemia, and in case of heterozygous carriage - about sickle cell anomaly. The name of this type of anemia is due to the fact that the erythrocytes in this disease acquire a crescent shape, which is determined by a microscope.

Homozygous form of hemoglobinopathy S is manifested by mild anemia and a number of complications. The disease begins to appear only a few months after birth, since fetal hemoglobin( F), present in the blood of the child in the first few months after birth, does not contain an abnormal β-chain. In addition, a high level of fetal hemoglobin in young children after the appearance of an abnormal chain reduces the sickle-shapedness of red blood cells due to increased affinity for oxygen.

The most typical manifestation of sickle-cell anemia in young children is the defeat of the osteoarticular system: sharp soreness of the joints, swelling of the feet, hands, legs. These changes are associated with thrombosis of blood vessels that feed bones. Often there are "melting" of the heads of the femoral and humerus bones. Thrombosis often causes lung infarcts. People suffering from

sickle cell anemia , in most cases of high growth, are thin, with a twisted backbone. They often have a high tower skull, altered teeth, delayed development, sometimes signs of eunuchoidism. Abdominal pain can mimic various diseases of the abdominal cavity. A frequent complication of sickle-cell anemia is visual disturbances associated with changes in the vessels of the retina. Hemorrhages in the vitreous and retinal detachment often lead to blindness. On the shins ulcers often occur. Thrombosis of large vessels lead to heart attacks in the kidneys, in the lungs. Quite often develop thrombosis of the vessels of the brain. The spleen in small children greatly increases in size, but in the future it decreases, and after 5 years, its increase is a rarity. The liver with sickle-cell anemia is also increased. In adult men, there may be a prolonged erection of the penis, not associated with arousal( pathological nature) - priapism.

Anemia in most cases is relatively small( hemoglobin content 60-80 g / l).In the blood smear under the microscope, sometimes sickle erythrocytes are detected. The content of immature forms of erythrocytes is increased, the content of bilirubin is increased. ESR with sickle-cell anemia is usually within normal limits.

Sometimes during exacerbation of the articular or pulmonary process, children develop severe hemolytic crises with the appearance of black urine, a sharp drop in hemoglobin level, an increase in temperature.

Most people with sickle-cell anemia die in early childhood. Some, however, can live to adulthood. In connection with this, the question of the course of pregnancy in women suffering from sickle-cell anemia is currently being discussed. Pregnancy worsens the condition of such women. The maternal mortality rate for sickle-cell anemia is 6%.Fetal death is also very high.

Heterozygous form of hemoglobinopathy S( sickle-cell anomaly).People never know about their illness. The hemoglobin content and well-being remain normal. The only sign in some people is the appearance of blood in the urine, which is associated with small infarcts of the kidney vessels. The content of abnormal hemoglobin in erythrocytes with heterozygous form of hemoglobinopathy is small, and manifestations of the disease are observed only in the period of insufficient intake of oxygen: in case of severe pneumonia, during flights on unsealed aircraft, during anesthesia.

Thrombosis can affect any organs that suffer from sickle-cell anemia. In 10% of individuals observed for sickle cell anomaly, spleen infarctions were detected. Sickling red blood cells can be detected only when using a special sample, which is conducted in specialized laboratories.

The prognosis for sickle cell anomaly is good. With sickle-cell anemia, most people die in childhood.

Treatment of sickle-cell anemia. Adults with mild sickle-cell anemia need treatment only during exacerbations of the disease. It is very important to fight infectious diseases, especially in young children. In connection with pulmonary infections, thrombosis in people with sickle-cell anemia, there are often signs of pulmonary insufficiency. This leads to an "oxygen starvation" of tissues, which increases the sickle-shapedness of the erythrocytes. Oxygen therapy( oxygen inhalation treatment) is recommended, with severe anemia - transfusion of donor red blood cells.

Treatment of sickle cell anomalies in most cases is not required. However, with exacerbations, treatment should be carried out in the intensive care unit, as well as treatment of sickle-cell anemia.