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Beta Thalassemia

2023-05-10 20:49:49

Beta Thalassemia: A fatal genetic disorder that destroys the lives of children and adolescents Beta thalassemia (BT) is a convergent hemolytic anemia with a single genetic abnormality. It has over 200 mutations; most of them are very rare and affect almost 20 different alleles of the chromosome. Approximately 3% of the world's population possesses this gene. Beta thalassemia comes from Thalassa so that the word looks awful, which means that the sea and the hippocampus mean blood. In amateur language, it is called "Mediterranean" anemia or "Cooley anemia". Because its name is perfectly correct, you may think that this disease occurs mainly in the Middle East and Southwest Asia.

Beta thalassemia (Cooley anemia) occurs when two beta globin genes are mutated (altered) and the mutation is severe. This is the most serious form of beta thalassemia. Beta Thalassemia infants appear to be healthy right after birth, but symptoms begin to appear within 2 years of birth. This condition can cause serious symptoms, life-threatening anemia, and regular blood transfusions. The spleen will expand. The spleen helps fight infections and removes unnecessary substances such as dead blood cells and damaged blood cells from the body. Beta thalassemia may cause red blood cells to die at a faster rate, making the function of the spleen more difficult. Large spleen may exacerbate anemia, if it is too big, you need to remove.

When one of the beta globin genes mutates, symptoms of beta thalassemia or beta thalassemia occur. People in this state usually show very mild symptoms and do not require treatment, but they can give Thalassemia to children. Usually, they are mildly anemic and red blood cells are smaller than normal. Beta thalassemia (Cooley anemia) occurs when two beta globin genes are mutated (altered) and the mutation is severe. This is the most serious form of beta thalassemia. Beta Thalassemia infants appear to be healthy right after birth, but symptoms begin to appear within 2 years of birth. This condition can cause serious symptoms, life-threatening anemia, and regular blood transfusions.

Thalassemia is a genetic disorder inherited from parents. There are two main types, Alpha Thalassemia and Beta Thalassemia. The severity of alpha and beta thalassemia depends on how much of beta globin 4 genes or beta globin 2 genes are missing. Diagnosis is usually done by blood test such as whole blood count, special hemoglobin test, genetic test etc. Diagnosis can be done by prenatal prenatal examination. Treatment depends on type and severity. Treatment of patients in more severe conditions usually involves periodic blood transfusions, iron chelation and folic acid. Iron chelation can be carried out using deferoxamine or deferacylox. Occasionally bone marrow transplantation may be an option. Complications include iron overload caused by blood transfusions, causing heart and liver diseases, infections, osteoporosis. If the spleen is excessively dilated, surgical resection may be necessary.