BMT in Thalassemia

What do parents feel when a doctor tells them that their 6-month old baby will need blood transfusions for the rest of her life? How do they manage their life and can they ever come to terms with a disease which would burden their baby forever?

Thalassemia is a disease which affects the production of blood. It runs in the family although the parents of affected children are seemingly normal. Such parents are said to have thalassemia minor. Their children however, have a 1 in 4 chance of suffering from a severe form of the disease called thalassemia major.

These children have a very low hemoglobin level. This can prove to be life-threatening if they are not given regular blood transfusions, every 2-3 weeks. After all, these children are unable to produce the normal hemoglobin HbA. Due to repeated transfusions iron builds up in the bodies of these children. This can easily be tested by checking the ferritin level in the blood. If the ferritin is more than 1000 ng/ml then we need to give medicines to decrease the level of iron in the body. However, not many children receive proper treatment and hence iron continues to build up in their bodies. This increased iron gets deposited in various organs of the body. By the time these children grow to be 20 or 30 years old their organs get damaged. The liver gets enlarged, the heart develops weaknesses and the body doesn’t grow either.

This can be prevented if the child is given medicines, called chelators. These medicines have to started early in childhood. They have to be given in proper doses and the ferritin needs to be checked frequently to ensure that the iron levels are not building up in the body. Once the organs of a patient’s body have started getting damaged it becomes very difficult and sometimes impossible to reverse this.

Bone marrow transplantation (BMT) is one treatment option for thalassemia. Best results from BMT can be obtained if it is done while the child is still young and while the body has not had too much damage due to iron overload. To do a BMT we need a donor who is HLA (human leukocyte antigen) matched with the patient. The chance that a brother or sister will have a complete HLA match with the patient is 1 in 4, i.e. 25-30%. While only 2-4% of parents will have a complete HLA match with a patient.

If an HLA-matched relative is present then they can donate stem cells from their bone marrow to the patient. These stem cells can then produce a new bone marrow and hence normal or near-normal blood. If the transplant is done early in life then about 80% of patients can be cured of thalassemia. The wonderful thing is that donors seldom ever have a problem during donation. Their bodies just produces new bone marrow! Thus BMT is an important treatment option for thalassemia in our country.

Dr. Sachin Jadhav, 

Consultant Haemotologist and BMT, 

BGS Global Hospitals, Bagalore
India