Thalassemia major

Thalassemia Major: Understanding, Symptoms and Treatment

Thalassemia major, also known as Mediterranean anemia, erythroblastic anemia or coolie anemia, is an inherited blood disorder that results in a lack of healthy red blood cells. This condition is a form of thalassemia, which is characterized by impaired synthesis of hemoglobin, a protein that is essential for transporting oxygen in the body.

Thalassemia Major is inherited as a recessive gene, that is, for the disease to develop, it is necessary to have two affected genes, one from each parent. People with one affected gene are called thalassemia carriers and usually have no symptoms.

In thalassemia major, red blood cells are destroyed faster than they are produced, resulting in anemia. Symptoms can range from moderate to severe and may include:

1. Pale skin
2. Fatigue and weakness
3. Short breath
4. Enlargement of lymph nodes
5. Enlargement of the spleen and liver
6. Delayed growth and development in children

Blood tests such as hemoglobin test, hematocrit and reticulocyte count are used to diagnose thalassemia major. Additional tests, such as genetic tests, may be needed to confirm the diagnosis.

Treatment for thalassemia major involves regular blood transfusions, which help replace missing red blood cells. However, frequent transfusions can cause iron to accumulate in the body, so chelation therapy may be necessary to remove excess iron.

Other treatments, such as bone marrow transplants and gene therapy, can also be used, but they can be expensive and have limitations.

Overall, thalassemia major is a serious disease that can lead to serious complications if not treated correctly. Therefore, it is important to undergo regular medical examinations and follow prescribed treatment to manage this disease and reduce the risk of complications.

Thalassemia, or Gunther's disease, is a systemic hereditary disease that develops slowly and is characterized by a change in the shape or color of red blood cells due to a decrease in hemoglobin levels. It is characterized by a low content of Hb in red blood cells, which is manifested by blueness of the skin and mucous membranes, enhanced by their jaundice and hoarseness of the voice. Erythrocytes in T. are enlarged, deformation of their nucleus often causes spherocytic disease and often causes the development of hemolytic anemia (there is a possibility of the formation of excess reticulocytes and microorganisms).