Thalassemia, also known as Mediterranean anemia, is an inherited disease characterized by defects in hemoglobin production, which is primarily responsible for the transport of oxygen to tissues.
Clinical manifestations of thalassemia depend on the number of chains affected in hemoglobin and the type of genetic mutation that has occurred, which can lead to fatigue, stunted growth, paleness and megalia of the spleen, for example.
- Thalassemia is a genetic and inherited disease.
- Not contagious or caused by nutritional deficiencies.
- However.
- In the case of certain types of thalassemia treatment it may involve an adequate diet.
- See how the thalassemia diet is done.
In general, the lower form of thalassemia, which is the most benign form of the disease, only causes mild anemia and paleness, which the patient usually does not notice; However, the main form, which is the strongest type of disease, may cause:
In addition, over time, the disease can also cause problems in the spleen, liver, heart and bones, as well as jaundice, which is the yellowish color of the skin and eyes.
Thalassemia is divided into alpha and beta depending on the affected globin chain, in the case of alpha thalassemia there is a decrease or absence of production of alpha-hemoglobin chains, while in beta-thalassemia there is a decrease or absence of beta chain production..
It is caused by a modification of the alpha-globin molecule of blood hemoglobins and can be divided into:
It is caused by a modification of the beta-globin molecule of blood hemoglobins and can be divided into:
In case of major thalassemia, you can always see slower than normal growth, making the child smaller and thinner than expected for his age.In addition, in patients receiving regular blood transfusions, the use of medicines that prevent excess iron in the body is generally indicated.
The diagnosis of thalassemia is made through blood tests, such as the blood formula, in addition to hemoglobin electrophoresis, which is designed to evaluate the type of hemoglobin circulating in the blood.Learn how to interpret hemoglobin electrophoresis.
Genetic testing may also be done to evaluate the genes responsible for the disease and differentiate the types of thalassemia.
Heel puncture tests should not be performed to diagnose thalassemia, as at birth circulating hemoglobin is different and shows no changes, and thalassemia can be diagnosed only at six months of life.
Treatment of thalassemia should be guided by a doctor 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 be aware of the aggravation of anemia in cases such as surgeries, serious illnesses, high stress situations or during pregnancy.
In general, your doctor may recommend the use of folic acid supplements, a vitamin that stimulates blood cell production and helps relieve anemia.Learn about folic acid-rich foods and how foods can help treat thalassemia.
In general, treatment for this form of thalassemia is done with blood transfusions during childhood, in case the child has atrophy growth or in situations where the spleen and liver are enlarged.
This is the most severe form of the disease, in which the person must receive blood transfusions for 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 major thalassemia may end up with excess iron in the body due to frequent blood transfusions, so your doctor may also prescribe medications for iron shear, which join the body and prevent iron overload.These medicines can be given directly into the vein 5 to 7 times a week or in pill form.
Complications of thalassemia occur only in the 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 bone and tooth deformities, enlarged liver and spleen, and heart failure may occur.