Thalassemia is curable!

Dr Deepak Charles,
Senior Specialist Hemato Oncologist,
Aster Medcity,
Kochi

Thalassemia is a blood disorder that is inherited, which means it is passed from parents to children through genes. Thalassemia is one of the world’s most common single-gene disorders, and is more common in individuals of Asian, African, Mediterranean, or Middle Eastern descent. Carriers of thalassemia are healthy individuals.

In Thalassemia, the body doesn’t make enough of hemoglobin, which is a protein that is an important component of red blood cells. The lack of haemoglobin results in the red cells in the body not functioning properly. The red cells survive for shorter periods of time, resulting in fewer healthy red blood cells in the blood. Since red blood cells carry oxygen to cells in the body that is used for the cells to function, when there are not enough healthy red blood cells, there is also not enough oxygen delivered and a person with thalassemia feels tired, weak or short of breath. This is a condition called anaemia.

People with thalassemia may have mild or severe anaemia depending on the type of thalassemia. The severity of thalassemia ranges from being a carrier (trait or minor), intermedia and major. When an individual is a carrier, the risk of giving birth to a child affected with thalassemia is 25% when both parents are carriers and 0% when only one parent is a carrier.

A person who has thalassemia trait may not have any symptoms at all or may have only mild anaemia, while a person with thalassemia major may have severe symptoms and may need regular blood transfusions. Severe anaemia can damage organs and even lead to death.

The type of thalassemia also depend on the part of the haemoglobin affected, either ‘alpha’ or ‘beta’. Hemoglobin, which carries oxygen to all cells in the body, is made of two different parts, called alpha and beta. Alpha thalassemia or beta thalassemia refers to the part of hemoglobin that is affected due to the defective gene.

Another classification depends on the dependency of blood transfusions and the severe forms that require frequent transfusions are known as ‘Transfusion-Dependent Thalassemias’ while the milder forms are known as ‘Non Transfusion-Dependent Thalassemias’.

Individuals with thalassemia have symptoms resulting from anaemia like tiredness, weakness, dizziness, shortness of breath, tachycardia (fast heartbeat), headaches, leg cramps, difficulty in concentration and pale skin. The body responds by trying hard to make more red blood cells resulting in the bone marrow growing bigger and causing bones to expand and get thinner and more fragile. The spleen, where blood is also made, enlarges.

Transfusions decrease the complications of severe anaemia by providing the body with more red blood cells to carry oxygen. However, over the longer term, the beneficial effects are limited by iron overload in which excess iron from transfused blood settles in organs such as the heart and liver, a consequence of the body's limited capacity to excrete iron.  This requires regular therapy known as ‘chelation’ to remove excess iron and prevent damage to the organs. In addition, there is a risk of complication of infection with blood-borne agents due to regular transfusions.

But thalassemia can be treated with Bone Marrow Transplant (BMT) presently renamed as Hematopoietic Stem Cell Transplantation (HSCT). BMT is the only treatment that offers a potential cure for thalassemia at this time. In BMT, high-dose chemotherapy eliminates thalassemia-producing cells in the marrow and replaces them with healthy donor cells from bone marrow or umbilical cord blood.

BMT has a better outcome in younger patients with thalassemia. Other factors affecting the success include adequacy of chelation, the presence or absence of liver fibrosis and the presence or absence of liver enlargement. Advances in infrastructure and techniques for BMT have made the procedure safer and more effective. Problems of rejection are improving with the use of intensive immunosuppressive therapy. After a successful bone marrow transplant, a patient with thalassemia will not require further blood transfusions. But he may require treatment for the pre-existing iron overload from his previous transfusions.

It was in 1982 that the first BMT was performed on a thalassemia patient from an HLA identical sibling donor. Since then, thousands of successful transplantations have been reported globally. Most patients do not have an HLA-matched sibling, and hence donor selection is of great importance. HLA (Human leukocyte antigen) typing is done before transplantation to determine the degree of compatibility between donor and recipient. BMT is now considered for all patients with thalassemia who have a suitable donor.

Aster Medcity with its highly advanced and state-of-the-art diagnostic and therapeutic infrastructure is one of the premier centres in the country for BMT. An advanced BMT unit with HEPA filtered isolation rooms manned by a team of qualified and experienced doctors, nurses and medical support staff treat the patient in sterile atmosphere where the patient is safe and comfortable during the treatment.