Managing thalassaemia‐ indian experience

Abstract

Overview: Thalassaemia is one of the major hereditary disorders involving haemogloblin in the human blood, which accounts for high mortality in childhood the name of a group of genetic blood disorders. Is a major clinical problem and unless supported by transfusion, children suffer from growth retardation and die at an early age from the profound effects of anemia. Thalassaemia and the haemoglobinopathies are a major health problem, placing an immeasurable emotional, psychological and economic burden on millions of people around the world. In the West, substantial progress has been made towards understanding the pathology of thalassaemia and its treatment. But the fact remains that the treatment of thalassaemia is a costly and painful process. In developing countries, knowledge of the disease remains sparse and treatment is an unaffordable luxury. Epidemiology: Globally, over 500,000 children with Hb disorders born annually 70% in middle and low resource countries. Out of which about 70% sickle cell anaemia and 30% thalassaemia syndromes. Less than 500,000 patients with Hb disorders are registered (living). Thalassemia in India the prevalence shows the estimated number of thalassemics in India is 1,00,000. On an average 8-10 thousand thalassaemia majors born in India every year. Recommended treatment: Regular blood transfusion on a life long basis until a cure is available Transfusion regimes should aim to keep patients Hb levels at between 9- 10.5 g/d1 before transfusion and not more than 15 g/d1 after transfusion. Ideal Blood Transfusions: A unit of 250 ml packed red cells to be transfused every 3- 4 weeks and blood transfusion to take place in Thalassemia Centre under proper medical care with regular Chelation. Treatment: Many children die undiagnosed and even after diagnosis, death often occurs due to anemia, infection, cardiac failure. Not more than 10-15% of thalassaemia majors receive adequate treatment. The Cost of maintaining good treatment $2090.00-$4180.00 per year. Challenges: Threat is growing as it is estimated that about 60,000-70,000 are born each year world over with B-thalassaemia major. Out of which 8000-10,000 are born each year in India (approx 20%). By 2020 the figure will reach 2,12,000 from 1,00,000. Cure of Thalassemia: 1. Stem Cell Transplantation. 2. Cord Blood Transplantation. 3. Gene Therapy. 4. Hydroxyurea- Some drugs, including Hydroxyurea, can stimulate production of a third type of protein chain called gamma chains. In the womb, the fetus makes this type of protein instead of beta globin. Way forward: It is Safe Blood transfusion, adaptation of National plan, access to free treatment and value of prevention is recognized. In spite of high prevalence the counseling and health education regarding inherited disorder before marriage is required and needs to avoid the marriage between two traits. In is important that genetic counseling of the new born before birth for thalassaemia traits.