Thalassaemia is an inherited blood disorder which is caused by an abnormal gene. A person with Thalassaemia is unable to produce normal, functioning hemoglobin in the blood.

Hemoglobin carries oxygen from the lungs to all parts of the body. When the body is not able to produce normal, functioning hemoglobin, the affected person suffers from anemia.

Thalassaemia is passed on from parent to child and can affect both males and females. In India, about 3.5% of the population are carriers of the Thalassaemia gene.

There are two types of thalassaemia:

1. Thalassaemia minor (Thalassaemia trait or Carrier).
2. Thalassaemia major.

A person who has inherited one Thalassaemia gene is said to have Thalassaemia minor (Thalassaemia trait or Carrier). He or she is healthy and leads a normal life. Most people with Thalassaemia minor do not know that they have it. However, the affected persons can pass on the abnormal gene to their children.

Thalassaemia major is a severe form of anemia. The affected person has inherited two Thalassaemia genes, one from each parent. He or she may look normal at birth but within 1 - 2 years of life, will suffer from severe anaemia, which leads to poor growth and development as well as a shorter lifespan.

The affected person will need blood transfusion every month to sustain life.

Any permanent cure / treatment of Thalassaemia major?

At present, a bone marrow transplant is the only hope of possible cure for thalassaemia major but the risks are considerable. Permanent and best treatment for such children is Bone Marrow Transplantation ( B.M.T. ) with a matched brother / sister. The odds of finding a compatible donor are around 30 per cent and most donors are siblings. This operation is more successful in young children who don’t suffer from iron overload, but graft rejection or even death can still result. The risks involved mean that bone marrow transplantation is not a viable option for some families. It should be remembered that a person with thalassaemia major can live a normal life with regular transfusions and medication. Genetic research is ongoing in the hope of finding a cure.

In India Bone Marrow Transplantation is available at Christian Medical College and Hospital , Vellore Tamil Nadu . The estimated cost of B.M.T at C.M.C H Vellore is around 12 lac. In addition to this cost, medicines and timely investigation before and after B.M.T costs another 2 – 3 lac making a total budget of Rs. 14 – 15 Lac . this condition is beyond the reach of most. [ Rs. 45 = around 1 dollar] Bone marrow transplants

If only one parent has thalassaemia minor, the following can occur:

• 50% chance of having a child with thalassaemia minor
• 50% chance of having a normal child
• None of the couple’s children will get thalassaemia major.

• 25% chance of having a child with thalassaemia major
• 50% chance of having a child with thalassaemia minor
• 25% chance of having a normal child

Since thalassaemia can be passed on from one generation to another, you and your partner should go for a thalassaemia screening if you are:

• Planning to get married
• Starting a family.

If you or your partner has thalassaemia minor, both of you should see a doctor for genetic counselling before you plan to get married or have a child. The doctor will explain the risks and discuss the choices you have. He may refer you to the National Thalassaemia Registry for further counselling.

If you are already pregnant and both you and your husband have Thalassaemia minor, you should go for a prenatal diagnostic test to find out whether your unborn baby has Thalassaemia major.

Prenatal diagnosis can be done by chorionic villus sampling or by fetal blood sampling. Both tests are conducted under ultrasound guidance.

Chorionic villus sasmpling involves obtaining some cells from the placenta for testing. This is done before 9-10 weeks of pregnancy.

Fetal blood sampling involves obtaining a small amount of fetal blood from the umbilical cord for testing. This procedure is done at about 18 - 20 weeks of pregnancy.

Based on the result of the test, the doctor will advise you and your husband accordingly.