What is thalassaemia? What causes thalassaemia?

The term thalassaemia refers to a group of blood disorders that are inherited. It is characterized by inefficient hemoglobin in blood. It is the hemoglobin present in the red blood cells that carries oxygen all around the body. 'Alpha chains' and 'beta chains' are the main components of the hemoglobin molecule. In thalassaemia, hemoglobin produced in the bone marrow has either a faulty alpha chain or a faulty beta chain.Red blood cells break down easily in the absence of enough normal hemoglobin. This affects the oxygen carrying capacity and leads to mild or severe forms of anemia.

Thalassaemia is of two types- alpha thalassaemia and beta thalassaemia. Alpha thalassaemia is a result of genetic mutation affecting the alpha chain and beta thalassaemia results from genetic mutations in the beta chain. Complications associated with thalassaemia include excess amount of iron in the body, deformities in the bones and cardiovascular disorders.

What are the symptoms of thalassaemia?

Alpha thalassaemia generally doesn’t show up any signs or symptoms apart from mild anemia. Symptoms of beta thalassaemia include anemia, delayed growth, enlarged spleen, fatigue, jaundice, bone deformities, heart and liver problems.

How is thalassaemia diagnosed?

Blood tests can predict thalassaemia. Further tests are necessary to identify the type of thalassaemia. Pregnant women are often screened for thalassaemia. Chorionic villus sampling(CVS), amniocentesis and fetal blood sampling (FBS) are the other tests available to confirm if the baby would develop thalassaemia.

How is thalassaemia treated?

Treatments such as bone marrow transplant and cord blood transplant can cure thalassaemia. However the treatment involves serious risks and may not suit everyone. Regular blood transfusions are needed for those with beta thalassaemia major (BTM). This often leads to iron overload in the body. Chelation therapy is needed to eliminate this excess amount of iron.

Is there a way to prevent thalassaemia?

Seek the help of a genetic counselor, if your family members have thalassaemia. This is very much needed when you think of having children. Genetic counselors would identify your risk of passing on thalassaemia to the next generation and help you decide on how to proceed with the pregnancy.