The word Thalassemia is derived from Greek word "Thalassa" which means Great sea. The disease was first identified in countries around Mediterranean sea. The largst concentration is now seen in India,Pakistan,Middle East ,Greece and Italy.
It is a hereditary disorder of reduced haemoglobin synthesis and the patient develops severe anaemia in first few months of life. Less severe forms of the disease are present but the severe most form is the Major type where the child needs to be diagnosed fast and treated with blood transfusion every 15-20 days to keep him alive. the transmission of this disease is through the parents who are symptomless as they are in carrier state.
The child needs regular blood transfusions in the form of packed RBC'S and is prone to so many other diseases like HIV and Hepatitis B or what we call as transfusion risks and the biggest complication is deposition of excessive Iron in his/her body in kidneys,liver and heart and if this iron is not removed from the body the child will die of other complications. Removal of excess Iron from the body is called "Chelation" and there are a few drugs available in the market ,though costly and the kid has to take it every day till he lives or is treated for the disease.The drugs have their own complications and at time can be fatal. In normal course of disease 33% of the kids do not survive beyond the age of 10 and another 33% beyond the age of 20.
The disease is important as not only it can be cured but also it can be prevented and thus a lot of burden from the society can be taken off.
The disease can be easily diagnosed in people before marriage and if found positive(Carriers)in both partners the marriage should be avoided.In case of post marriage diagnosis the pregnant mother can go for CVS and if the baby is found to be suffering from the disease then pregnancy can be terminated on medical grounds.This is a very important aspect of the prevention which does not involve much costs as compared to giving birth to a defective child and having a moral and financial burden on the whole family. The children suffering from the disease have only one treatment option and that is to go for a Bone marrow transplant operation or a Stem cell transplant operation unfortunately it is a tedious process and needs a lot of patience and is a costly treatment but fortunately is available in India with results comparable to anywhere in the world.
The CME was very helpful in the sense that not only transplant surgeons and the hospitals agreed to give a good discount(40-50%) for the patients refereed through the foundation but also the Public cord blood bank in India (Stemcyte) agreed to provide us stem cells almost free of cost to the foundation for the needy and poor. The cost of the treatment which in actual is 10-15 lacs (1,50,0,000) INR will be further cut down by the foundation in terms of helping the family so that the baby can be cured for ever and of course I need support from all of you to make this dream of mine to come true because think of a 2 year old child having blood transfusion every 20 days and also for the family..............
