Thalassemia, also known as Mediterranean anemia, is an inherited disease characterized by a defect in hemoglobin synthesis, which is primarily responsible for the transport of oxygen to tissues.
Clinical manifestations of thalassemia depend on the number of cells affected and the type of genetic mutation present, which could manifest as fatigue, stunted growth, paleness and megalia of the spleen, for example.
- Thalassemia is an inherited genetic disease.
- So it is not contagious and is not caused by nutritional deficiencies.
- However.
- In the case of certain types of thalassemia.
- Treatment may involve adequate nutrition.
Typically, the lower form of thalassemia, which is the most benign form of the disease, causes mild anemia and paleness, which usually does not notice the patient, however, the most severe form of this disease can cause:
In addition, over time of the disease, it could also cause problems in the liver, liver, heart and children, as well as jaundice, which is the yellow color of the skin and eyes.
Thalassemia is divided into alpha and beta depending on the globin chain affected. In the case of alpha thalassemia, there is a lack of production of alpha cells from hemoglobin, although in beta-thalassemia, there is a lack of production of beta cells,
It is caused by a modification of the alpha globin molecule of blood hemoglobins and can be divided into:
It is produced by modifying the beta-globin molecule of blood hemoglobins and can be divided into:
In case of major thalassemia, it may be noted that growth is slower than normal, because the child is not as thin and as expected for age. In addition, in patients receiving regular blood transfusions, it is normal to indicate the use of medicines that prevent overweight in the body.
Diagnosis of thalassemia is done using blood tests, such as the blood formula, in addition to hemoglobin electrophoresis, which aims to evaluate the type of hemoglobin circulating in the blood. Learn more about electrophoresis and its normal values.
Genetic testing may also be performed to evaluate the genes responsible for the disease and differentiate the types of thalassemia.
Neonatal screening should not be performed to diagnose thalassemia, as circulating hemoglobin is different and cannot change, as diagnosis of thalassemia is possible after six months of life.
Treatment of thalassemia should be guided by a hematologist and usually varies depending on the severity of the disease:
This is the most benign type of disease and does not require specific treatment, usually the person has no symptoms, but should remain attentive to the aggravation of anemia in cases such as surgery, serious illnesses, high stress situations or during the embargo. .
In general, your doctor may recommend the use of folic acid supplements, a vitamin that stimulates blood cell production and helps relieve anemia.
In general, the treatment of this form of thalassemia is carried out with blood transfusions during childhood, in cases of non-growth retardation or in situations of increased blood and liver.
This is the most serious form of the disease, as the person should receive blood transfusions throughout their life, every 2 to 4 weeks, depending on the level of anemia, the earlier treatment is started, the fewer complications there will be in the future.
People with such a serious illness may end up having an excess of hierarchy in the body due to frequent blood transfusions, so the doctor may also prescribe a inglant from the hierarchy, because they join this organism and prevent its excess. administered directly into the vein 5 to 7 times a week or as tablets.
Complications of thalassemia occur in intermediate and severe forms of the disease, especially when not treated properly.
In the intermediate form of the disease, complications may include
In severe cases, complications such as blood and tooth deformities, enlarged liver and stomach, and heart failure can occur.