Authors: Dr. Nita Radhakrishnan, Associate Professor and HOD, Pediatric Hematology-Oncology, Post Graduate Institute of Child Health, Noida, and Dr. Sandeep Bhalla, Associate Vice President, ECHO India

Beta thalassemia is a genetic blood disorder characterized by reduced or absent production of beta-globin chains in hemoglobin, leading to anemia and its multisystem complications. In India, beta thalassemia is a significant health issue, with an estimated 10,000-15,000 babies being born with the disorder each year. Sickle cell anemia, another hemoglobinopathy, has been a major concern and has drawn recent focus from the government of India in terms of a mission to reduce its burden. This blog will provide an overview of beta-thalassemia and hemoglobinopathies in India, including its prevalence, diagnosis, treatment, and prevention.

Globally, beta thalassemia was particularly prevalent in regions where malaria was endemic, such as the Mediterranean, Middle East, and South Asia. However, due to the migration of the population, it is now seen in all parts of the world. In India, the prevalence of the disease varies by region, with the highest rates found in the northern states of Punjab, Haryana, and Delhi and the western states of Maharashtra and Gujarat. In addition, hemoglobinopathies like sickle cell anemia are prevalent in the tribal districts of the country, especially in the states of Maharashtra, Madhya Pradesh, Orissa, West Bengal, Jharkhand, Chhattisgarh, etc. Hemoglobin E, another variant, is prevalent in the north-eastern states of the country. According to a study published in the Indian Journal of Medical Research, the overall prevalence of beta-thalassemia carrier state in India is estimated to be around 3-4% of the population, with over 10,000 new cases of thalassemia major being diagnosed each year. This increases to the tune of 17-40% for certain hemoglobinopathies in high-risk communities. The births of children with these diseases are particularly higher in societies with consanguineous marriages. Thus hemoglobinopathies continue to be a major public health concern for India.

The burden of these diseases in India is not just limited to the number of affected individuals but also includes the social, economic, and psychological impact on patients and their families. Beta thalassemia is a lifelong condition that requires regular blood transfusions and chelation therapy to remove excess iron from the body, which can lead to complications such as heart disease, liver damage, and endocrine disorders. The cost of treatment can be prohibitively high for many families, especially in rural areas, where access to specialized medical care and supportive services is limited. The resources needed to support the treatment of a child with this disease into adulthood, so that they lead a productive, “healthiest life” possible are also prohibitive. Thus, from a familial, social, and public health perspective, prevention remains the way forward. Preventing beta-thalassemia in India requires a multifaceted approach that includes education, genetic counseling, and prenatal testing. Several professional and patient welfare organizations have joined hands to work towards increasing awareness of beta-thalassemia and providing resources for prevention and treatment.

Diagnosis & Treatment of Beta Thalassemia

Beta thalassemia is typically diagnosed through blood tests that measure the levels of hemoglobin variants. These tests can determine whether a person is a carrier of the beta thalassemia gene or has the disorder itself. In children who present with anemia and an enlarged spleen, this remains the first diagnosis to be ruled out. Prenatal testing is also available for couples at high risk of having a child with beta-thalassemia. 

The treatment of beta thalassemia major includes lifelong transfusions, chelation for the iron accumulated through transfusions or otherwise, and comprehensive health monitoring that starts early in childhood and continues into adulthood.  The quality of treatment received is vital. Even though services are provided through government programs, the uniformity of healthcare remains a challenge. So although we have tertiary care centres providing services at par or even better than the universal standard of care, the treatment offered at the primary health care level is less than optimal. The reasons for this are multifactorial. The dedication and commitment of the health team, provision of resources, bridging the knowledge gap, and real-time troubleshooting with difficult patients or scenarios are needed at the primary healthcare level. 

Public Health Initiatives to Manage Beta Thalassemia

To address the challenges of beta-thalassemia in India, several initiatives have been undertaken by the government, non-governmental organizations, and healthcare professionals. One such initiative is the National Program for Prevention and Control of Hemoglobinopathies (NPPCH), launched by the Ministry of Health and Family Welfare in 2016. The program aims to create awareness about beta-thalassemia and other hemoglobinopathies, provide counselling and testing services, and improve access to treatment and care for affected individuals and their families. Under the National Health Mission of the Ministry of Health and Family Welfare, there are programs in place to provide standard transfusion and chelation therapy to patients free of cost, as most drugs are expensive and beyond the means of families who need them. The program also has provision for antenatal testing for hemoglobinopathies, which needs to be implemented at a much larger scale than it is being done now.

Any effort to improve timely diagnosis, promote carrier testing and encourage prenatal diagnosis if both couples are at high-risk cannot be made without the active involvement of pediatricians, primary care physicians, and the lay public at large. There is an active need to give the final push towards developing this concerted approach to bring thalassemia and hemoglobinopathies to the limelight and reduce the births of more children in the years to come. The effort should engage primary care physicians, committed specialists who can guide the training of these physicians, and constant handholding through clinical and administrative challenges. It also needs the support of all stakeholders so that work is target-driven, smooth, and sans duplications.  

ECHO and PGICH’s Collaborative Capacity Building Efforts for Beta Thalassemia Management

A program was conceptualized in 2021 to address these very challenges and aimed at engaging pediatricians who are the primary care providers for these children and pediatric hematologists as specialists, civil societies as patient navigators and resource providers, and government officials for implementation. This was the collaborative work of ECHO India and the Post Graduate Institute of Child Health (PGICH), which brought together their individual strengths. ECHO India has a long history of leading educational efforts in global public health challenges such as tuberculosis, hepatitis C, and mental health. Post Graduate Institute of Child Health is a stand-alone pediatric institute under the Government of Uttar Pradesh that has a mandate of providing pediatric super-specialty care for the country. The centre now provides diagnosis-to-cure services for most chronic diseases in children, including thalassemia and hemoglobinopathies. A capacity-building training program for healthcare workers on a National Program for the Prevention and Control of Beta Thalassemia and Other Hemoglobinopathies in India was launched with funding from Global ECHO, which aims to standardize treatment given for these children and provide a strong impetus to the prevention of these disorders. 

In phase 1, three states of India with a high burden of the disease were selected for training. The collaboration joined hands with the Indian Academy of Pediatrics, Pediatric Hematology-Oncology Chapter of the Indian Academy of Pediatrics, with state governments / municipal corporations and civil societies to develop a team that will drive this effort forward. The three states viz. Maharashtra, Madhya Pradesh, and West Bengal have been selected with the engagement of Brihanmumbai Municipal Corporation, Kolkata Municipal Corporation, and National Health Mission, Madhya Pradesh.  The program is designed to train 50 trainers and 350 medical officers engaged in thalassemia care over a period of 3 years in a sustainable format with monthly modules, periodic assessments, and the provision of standardized care bundles. The 50 trainers nominated by the Indian Academy of Pediatrics, the Pediatric Hematology-Oncology Chapter, and the knowledge partners from each state will serve as primary trainers and contact points for the states under focus. This training of trainers is being organized on April 11 and 12, 2023, in Delhi & National Capital Region to finalize training modules and roll out the curriculum. The formal training of each state would start in May 2023, commencing on 8th May 2023, which is celebrated as International Thalassemia Day. The same model can be adapted for other states as phase 2 with the same model of local capacity building, long-term engagement, and active deliverables. 

With the concerted effort of all the stakeholders, we hope this sets in motion a program that will change the landscape of the management of hemoglobinopathies, help us focus on prevention, develop pathways of referrals, and reach the last mile for every child we treat.


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