Future of thalassemia care: An Indian perspective

June 10, 2019 0 By FM

In the past few decades, there have been profound developments in the management of thalassemia around the world, as well as in India. Regular transfusion and iron chelation have drastically improved the quality of life for patients and transformed thalassemia from a fatal disease to a clinically manageable one. Regular transfusions to maintain pre-transfusion haemoglobin levels to around 9-10g/dl has reduced complications such as anaemia and compensatory bone marrow expansion. Repetitive transfusions lead to iron overload as each transfusion has 200mg of iron, leading to significant morbidity and mortality due to damage to the heart, liver and other organs. Patients in India develop iron overload complications like hypogonadism, hypothyroidism, hypoparathyroidism, diabetes mellitus and cardiac disorders in the second decade of life. Iron overload related hepatic diseases like cirrhosis and fibrosis are very poorly addressed in India. Some of the major obstacles leading to high mortality are poor availability of medical care, lack of safe and adequate red blood cell transfusions with high cost, and poor compliance with chelation therapy. Splenectomy, which is rare in western countries, is needed for many patients in India due to insufficient transfusions. Understanding these requirements, the major diagnostic and therapeutic approaches have changed.

Use of MRI scanning to assess iron overload helps in understanding the patient condition better to tailor treatments with reduced co-morbidities. For cardiac iron overload, non-invasive MRO based relaxation parameters T2 and T2* are used frequently. Low T2* indicates high myocardial iron and is often associated with poor ventricular function, arrhythmias and a need for clinical intervention. With respect to therapies, there are increased instances of haematopoietic stem cell transplantation (HSCT) since 1982, as this gives a better chance of a cure. Even though the majority of HSCT have been done from HLA identical related donor, an unrelated but properly selected match can give good results too. Recently, more data is being generated about using cord-blood-based transplantation. In India, HSCT was not considered as a life-saving procedure but an elective option. However, with better quality of molecular tissue tying, conditioning regimens and support therapies, it is now accepted as the better option. As patients do not need life-long transfusions, it becomes cost-effective and sustainable. It is estimated that almost 12,000 children are born with thalassemia to parents who are asymptomatic carriers. The carrier population in India, at about 3.3%, is significant enough to give importance to various aspects like prevention too. There is a need to translate clinical and scientific data to the population at large to bring awareness, which in turn can enable preventive screening. Screening results, along with proper genetic counseling, can help eradicate the disease. In small countries like Cyprus, a near complete elimination was possible due to mandatory antenatal testing. We, in our country, have to evolve with possible mechanisms to enable people to overcome this disease.

 

The author is medical scientist and former director of SGRF, Bangalore