Thalassemia

Main article: Human blood

Thalassemia is a genetic blood disorder that leads to a decrease in hemoglobin levels and prevents oxygen from being transported through the body. People with thalassemia experience constant fatigue, weakness and other problems due to lack of oxygen in the body. The disease is inherited from parents and comes in small, intermediate and large forms.

Disease in Russia

According to statistics available in May 2024, 1,778 children suffer from hereditary anemias in Russia, 964 children are registered with a hemoglobin anomaly. Another part is undiagnosed cases.

In Russia, 163 children with a large form of beta-thalassemia suffer, with an intermediate form - 66.

β-thalassemia

One of the most dangerous varieties of the disease is beta-thalassemia. This type of disease disrupts the synthesis of beta chains of hemoglobin and the exchange of iron in the body. In young children, in the first year of life, external signs of the disease appear:

• Mongoloid oval of the face,
• the quadrangular shape of the skull,
• dilated nasal septum,
• enlarged upper jaw,
• wrong bite.

There is a deformity of the skeleton, jaundice of the skin. Already in 1-2 years, transfusions of donor red blood cells are required for a child every 2-4 weeks.

Symptoms of beta-thalassemia: abdominal pain, bone pain, stunted growth and development, enlarged liver and spleen, headaches and dizziness, frequent infections.

Children with beta-thalassemia are outwardly different from others, experiencing problems heart with due to constant transfusion blood and overload of the body with iron. The accumulation of this mineral leads to diseases of the liver, pancreas and other organs. Physical suffering does not pass without a trace for either children or adults: depression anxiety and low self-esteem accompany many of them daily.

Treatment of thalassemia

Until 2024, the main method of combating thalassemia was transfusion. blood However, this treatment leads to hemolysis, risks of infectious and bacterial infections of the body, refractory. platelets

In 2024, there was a revolutionary breakthrough in the treatment of the disease. Genetic engineering therapy has appeared: after a single intravenous infusion of a gene-therapeutic drug, adult patients get a chance to permanently get rid of the need for a blood transfusion.

Unfortunately, there have been no studies on the safety of the drug for children, therefore, neither babies nor more adult children under 18 years old can be cured. Treatment can be used within the off-label, as a medicine outside the list of officially approved indications by decision of the medical commission.