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Bone Marrow Transplant is the cure for Thalassemia
Thalassemia is an inherited Genetic condition of Haemoglobin abnormality. Haemoglobin carrys oxygen to different parts of body. It is made of Alfa and Beta chains.
Thalassemia is an inherited Genetic condition of Haemoglobin abnormality. Haemoglobin carrys oxygen to different parts of body. It is made of Alfa and Beta chains. There are various types of thalassemia depending on the site of genetic abnormality.The most common types being Alfa Thalassemia and Beta Thalassemia. severity can vary from no symptoms other than mild Anaemia to severe anaemia that requires regular blood transfusions.
These abnormal Haemoglobin cells are more fragile and break down easily. The Body produces more red cells in order to do the function but they are defective. In India there are estimated 10,000 to 12,000 new Thalassemia cases diagnosed every year. The higher incidence is due to high consanguineous marriages in India.
Thalassemia Trait or Thalassemia Minor means you carry the defective gene but can still make enough red blood cells. So you do not have any symptoms and will only know after doing some blood tests( CBC) which show slight reduction in Haemoglobin level and small red cell size reflected by reduced MCV on CBC report. Many times these patients are wrongly treated as Iron deficiency with Iron suppliments .
If we know the diagnosis we can assess the possibility of their children having Thalassemia major by receiving double dose faulty genes if her partner or husband also has Thalassemia minor.
There is more than one gene abnormality and most of the Haemoglobin produced is faulty and they become severely anemic by 6 months of age and will need frequent blood transfusions. These children need blood transfusions every few weeks or monthly for their life. This causes excess iron accumulation in liver and heart and damage of organs leads to reduced life span.
Repeated blood transfusions also pose risk for transfusion-transmitted infections like Hepatitis B and Hepatitis C.Their growth and development is also affected by this. These patients need treatment for reducing iron overload called iron chelation, which is an expensive treatment and is not easily available for most of our patients.
Cure: Bone Marrow Transplantation is the cure for these patients. The earlier the transplant is done the better the outcome. But unfortunately very few patients avail this treatment due to lack of awareness and the cost.
If we calculate the cost of life long transfusions, Iron chelation, patient and family time spent in hospitals for transfusions and risk of viral infections we still believe Bone marrow Transplant is cost effective on long run. We are offering the services at Apollo Hyderabad and few other hospitals in Hyderabad and all our patients do not need to travel all the way to Vellore.
Many advanced countries like England offer antenatal thalassemia screening blood test for all pregnant ladies. We need to adopt universal thalassemia screening in all pregnant ladies to predict risk in newborn and adopt antenatal diagnosis if required.
Early referral for Bone Marrow Transplant, which is the only option to cure this. Safe blood transfusions and early initiation of Iron chelation is the key for success. The writer is consultant haemato oncology and stem cell transplant at Apollo Hospitals, Jubilee Hills, Hyderabad.
By Dr Padmaja Lokireddy