Prof. Sunil Goyal
Every year World Thalassemia Day is observed on May 8. The day creates awareness to honour the struggle of patients suffering from the disease. Gene disorders are a major health concern in our country and impose a heavy economic and emotional burden on the affected families. Statistics show that haemoglobin disorders are the most common single-gene disorder, impacting around seven percent of the population globally. In India, prevalence of beta- Thalassemia is estimated to be in the range of 2.9 to 4.6 % whereas sickle cell anaemia is more prevalent among lower socio-economic sections of society, ranging from 5 to 40 % among the tribal populations. As per the report of MoHFW, GoI, approximately 30 million Indians are silent carriers of beta-thalassemia and lead a normal life. The available treatment options for this genetic condition– bone marrow transplantation or regular blood transfusion – are cost intensive and distressing to the child.
Management and control of hemoglobinopathies are a challenge in India where 67.0% of people reside in rural regions. The GDP spent on health is one of the lowest (2.1%) resulting in high out-of-pocket expenses. The β-thalassemias are prevalent with an estimated 7500–12000 new births each year. Hb S (HBB: c.20A>T) and Hb E (HBB: c.79G>A) are also common regionally. Over 80 β-thalassemia (β-thal) mutations have been characterized in Indians. The δ gene mutations are increasingly being described and their coinheritance in β-thal carriers leads to a reduction in Hb A2 levels and a misdiagnosis of carriers. Around 15–20 centers offer prenatal diagnosis (PND) mainly in urban regions. The projected annual cost of care of β-thal patients over a decade (2016–2026) will increase from INR30,000 (US$448) million to INR55,000 (US$820) million if all patients are adequately treated. Cost comparisons are difficult to make with other international studies as the standard of care, cost of medicines and other services vary in different countries. Several centers provide hematopoietic stem cell transplants (HSCTs) for thalassemias, however, only around 250 HSCTs are done annually. Although the cost is high, financial assistance is available for a few patients. There are disparities in the quality of care and to address this a National Policy has been proposed for the management and prevention of hemoglobinopathies that will embark on a comprehensive program, providing adequate care and augmenting the existing public health care services. It will also include training, genetic counseling and easier access to preventive options and a National Registry.
Therefore, our focus must be on preventive measures. It should be noted here that marriage between two such silent carriers of defective genes may lead to serious genetic disorders among their children. Mass screening for silent carriers of defective genes of children at an early age will greatly help in detecting genetic disorders. It is essential to undertake such an exercise in all the states by the respective governments. The private sector and NGOs must also come forward in complementing the efforts of the government. Early detection will help in counselling the patients about the condition. Thus, it can also prevent marriage of two individuals who are silent carriers of defective genes. Many times, prenatal genetic screening tests are also undertaken to detect genetic abnormalities in the foetus.
Indeed, a comprehensive approach is required to address this health challenge of Thalassemia. The Union Health Ministry has prepared and issued detailed guidelines for prevention and management of Thalassemia, Sickle cell anaemia and other variant anaemia. The guidelines provide for screening of every pregnant woman during Ante-natal care, pre-marital counselling at the college level and one- time screening for variant anaemia for all children in class VIII. The Ministry of Tribal affairs has also taken several steps to control the prevalence of sickle cell anaemia in coordination with medical bodies such as ICMR.
Despite these efforts, unfortunately, around 10-15 thousand babies are born every year with Thalassemia in India. Lack of awareness on these genetic diseases is a major impediment in their prevention and early diagnosis. All stakeholders – doctors, paramedics, teachers, public figures, community leaders and media – should come forward to spread awareness on Thalassemia and sickle cell disease. Private sector must also come forward to set up diagnosis and treatment facilities, especially in tier two and three cities and rural areas. Thalassemia and Sickle Cell Society is doing noble efforts in ensuring treatment free of cost to those affected by Thalassemia and sickle cell anaemia and improving their quality of life.
As children affected with Thalassemia need regular blood transfusions and management throughout their life, access to safe quality blood for transfusion is a major challenge in their care and treatment. Everybody in this regard especially the youth of our country to come forward and donate blood for the needy. We are celebrating the 75th year of our Independence. Over these seven and half decades, various health indices have improved considerably in the country. Life expectancy at birth has increased, infant and maternal mortality have greatly reduced and many deadly diseases such as smallpox and polio have been completely eradicated. However, still there are challenges in ensuring quality and affordable healthcare for all in the country. India has a low doctor to population ratio, at 1:1,511 against the WHO norm of 1:1,000. This shortage of trained human resources in healthcare needs to be addressed on a war footing. This problem is acute in rural areas. Scaling up e-Health initiatives in rural areas using digital tools is another cost effective method for making healthcare accessible to all.
Another problem is high out-of-pocket expenditure, which adversely affects the low-income households that face the risk of being pushed into poverty. The Government’s flagship scheme ‘Ayushman Bharat’ is a praiseworthy initiative in this regard providing health assurance to many poor families. In the outset, we must remember that providing quality and affordable healthcare is a shared responsibility of public and private sector. Organizations like TSCS are showing the way through their excellent work. Let’s hope to see many more such initiatives by the members of our medical fraternity.
Author Prof. Sunil Goyal is an Eminent Social Scientist and Columnist. He is Dean and Chairman – Board of Studies at Dr. B. R. Ambedkar University of Social Sciences, Dr. Ambedkar Nagar (MHOW), Madhya Pradesh, India
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