Costly treatment, no new drugs and the lack of screening are the major reasons why the war against thalassemia is still at a nascent stage. The blood disorder which is found to affect children requires blood transfusion every month and the complications that follow require constant treatment.
In India, there are 40 million carriers of thalassemia and there are 7,000 to 10,000 infants born with this disorder every year. Half of these children succumb before they reach adulthood due to the treatment options not being affordable for all.
Consanguineous marriages and accepting premarital screening are the biggest challenges in India and as treatment becomes a costly affair, prevention is the only way forward explains Dr A.V.S Suresh, a consultant medical oncologist and haematologist.
QWhy is Thalassemia a growing concern?
Poor acceptance of premarital screening is a major reason and this involves the society’s outlook where the social and religious cultural barriers in the families are not willing to accept it. Consanguineous marriages continue to happen and only a very small percentage who have seen a case in the immediate family opt for screening. Many times, when we ask the parent of a thalassemic child ‘do you know about screening options’, 65 per cent of them say no. This explains why the war on thalassemia is still inefficient. To add to this is a failure to have universal testing. With a large population, there is a need for the government to take an initiative to carry out the screening.
QBut there is an increasing awareness; is it not possible for the families to opt for the testing?
Awareness is only one part of the entire programme. It requires a structured screening mechanism in place. It requires genetic and family counsellor support. It has an underlying social impact where a once screened and identified prospective groom or bride can be labelled within the community. Hence, it requires a proper, careful, confidential approach without labelling the person. Medically it requires the right diagnosis and making a proper choice where prenatal screening is vital.
QWhat are the treatment options in India? How much does it cost?
The treatment options are blood transfusion with iron chelation, which is the standard care, and it costs Rs 8,000 to Rs 10,000 per month. Bone marrow transplant costs Rs 12 to Rs 18 lakh and there are only a few families who can afford it. Recent data shows a 90 per cent success rate of bone marrow transplantation in patients who have HLA matched siblings. But factors like ignorance of the procedure, affordability and also inadequate centres are the major obstacles for curative treatment.
QMost thalassemia patients opt for blood transfusion. Is it helping fight the disease?
An estimated 2 million units of packed red cells are required and the demand is more than the supply. There is a need for specialised centres to provide a larger supply and to coordinate and monitor thalassemia care.
QAre there any new drugs on the horizon which can help deal with thalassemia?
New drugs are mostly at the experimental phase. These new drugs are targeting genes and the mutations in the HBB gene cause beta thalassemia. The HBB gene provides instructions for making a protein called beta-globin. But these are all in a very nascent stage and will take a long time for them to become commercially available. World Health Organisation insists that there must be mass blood donation to allow thalassemia patients to lead a normal life.
Thalassemia is of two types
Minor — Those afflicted with Thalassemia minor have only one copy of the beta haemoglobin gene. They have mild anaemia and they do not require any aggressive treatment. They lead a normal life.
Major — Those who have Thalassemia major have two genes for beta thalassemia and no normal beta chain gene. There is an abnormal production of haemoglobin in the body,which leads to insufficient oxygen causing anaemia. The disorder has a severe impact causing excessive iron, bone deformities, enlarged spleen, heart disorders and fatigue. In girls, it is found to cause delayed growth, low levels of follicle stimulating hormone and oestrogen in the blood.
Treatment options:
Blood transfusion, iron chelation therapy and bone marrow stem cell transplantation with vitamin B.
