In Thalassemia major, red cells synthesis is insufficient and the life span also is very short. The disease manifests early in childhood, mostly in the first year of life, and these patients require lifelong frequent blood transfusions (every few weeks) to keep them alive.
Burden of the problem: – In India it is estimated that 10,000 to 12,000 children are added every year to the pool. Parents, usually asymptomatic are the carriers of this disease and there is 25% risk of this disease affecting their children. The carrier state in Indian population varies from < 1% to up to 17% in some ethnic communities, with an average of 3.3%. So the disease burden is significant and worth immediate attention.
Challenges with blood transfusion: – These patients need timely supply of safe blood. It has been estimated that annual requirement of packed red cells is about 2 million units in India. Although patient organizations, Indian Red Cross Society and other regional blood banks have been working relentlessly towards fulfilling this requirement, the demand is significantly more than the supply. Lot of families have to struggle month after month in making packed cells available for their children. In a country of 1.2 billion people, can we pledge today that we donate blood to save precious lives of thousands of thalassemic children.
As blood is potential medium for transmission of infection, it is very important that blood these patients receive is safe. Although Government of India under NACO programme makes it mandatory to test for blood transmitted disease like syphilis, hepatitis B, hepatitis C and HIV, this is still not universally practiced. Even testing for these infections by traditional methods leaves some children at risk, if blood is collected in “window period”. Newer methods like NAT testing should be made compulsory and sponsored to minimize the risk of infection transmission in this window period.
Iron chelation: Thalassemia is a multi system problem and in addition to packed cell and iron chelation, need management by a multidisciplinary team. This team should have hematologist, endocrinologist, cardiologist, nutritionist, nurse practitioner etc. for holistic care of these patients. Repeated packed cell transfusions lead to iron overload, which deposits in important organs like liver, heart and endocrine glands. This iron overload is usually the cause of death in the second or third decade of life. These patients need to be on medications to remove this extra iron from the bodies and if adequately chelated, they can have normal life span. Inspite of freely available drugs, less than 10% of the patients are adequately chelated. Various factors like ignorance, poor compliance and more importantly unaffordability are major reasons for poor chelation. Very few state governments have made these drugs available to the patients, but supplies are erratic and inadequate. There is need of a central legislation making these drugs available freely and free of cost to these patients.
Bone marrow transplantation:- Bone marrow transplantation is currently the only curative option available for this condition. Recent data shows more than 90% success rate of bone marrow transplantation in patients who have HLA matched siblings. Very very small percentage of cases undergoes this procedure. Factors like ignorance about the procedure, affordability and inadequate centres where this treatment is available, are some obstacles towards this curative treatment. There is a need of government organizations, non-government organizations and other leaders to come together and support this curative treatment programme.
Preventive measures: Need of the hour is to have an efficient, countrywide programme for prevention of thalassemia, as the magnitude of problem both economic and social is huge. Screening thalassemia carriers, need to be made compulsory and antenatal testing made freely available in order to detect the disease very early in pregnancy. If small countries like Cyprus, have been able to eliminate this problem by efficient national thalassemia prevention programme, why can’t we?