Thalassemia – Causes, Symptoms, Tests, Treatment, Prevention

Thalassemia is caused when the body starts making abnormal form of hemoglobin which carries oxygen to different parts of body. Anemia is caused when the excessive destruction of blood cells starts due to this disorder. Thalassemia is also known as Mediterranean anemia and jackcsh anemia. Thalassemia is not a single disorder but a chain of defects with similar clinical effects. Severe cases can cause early death due to heart failure which happens in age group of 20 and 30 years. Thalassemia if left untreated than it can lead to infections development, liver and heart problems. The severity of disease is decided by the number of affected genes.

Causes and symptoms

Hemoglobin consists of two proteins which are Alpha globin and beta globin and the reason of occurrence of Thalassemia is the defect in a gene which control production of these proteins. This can be divided in two main parts which are Alpha Thalassemia which occurs when the gene controlling the production of alpha globin protein is missing and Beta Thalassemia which occurs when the gene controlling the production of beta globin protein is missing. Beta Thalassemia is also known as Cooley’s anemia. These two types that can be sub divided in two parts which are known as Thalassemia minor and Thalassemia major.

  • Thalassemia minor occurs when the patient gets the defective gene from one parent.
  • Thalassemia major occurs when the patient gets defective gene from both parents.  The children born with Thalassemia major are normal at the time of birth but they develop severe anemia during their first 5 years. In extreme cases of alpha Thalassemia major the children are still born as they either died in the last month of pregnancy or during the time of birth. The symptoms of Thalassemia are growth failure, fatigue, jaundice, shortness of breath and bone deformities in the face.

Tests

The tests through which a Thalassemia patient can undergo are physical examination, blood test, complete blood count, hemoglobin electrophoresis and mutational analysis.

Treatment

The treatment given to a Thalassemia major patient involves regular blood transfusion and folate supplements. The patient who had blood transfusion should not take iron supplements as it can increase the amount of iron in the body which in turn will harm the body. In some patients especially children bone marrow transplant can help in curing the disease.

Prevention

The prevention of Thalassemia is in the hand of parents who have defective genes. The parents should apply for genetic counseling and prenatal screening if they are planning to have children.