Sickle Cell Disease in India: The Burden and Way Ahead

By Devayni Patil, Pharm D (Winner of 'MedBound Hub's Essay Challenge – Where Medical Minds Speak Up!')

Sickle cell disease (SCD) is considered one of the most dangerous but under-recognised public health problems in India. This genetic blood disease is initiated by aberrant haemoglobin, causing the red blood cells to take on sickle shapes, resulting in a wave of adverse health outcomes. Following Nigeria, India has the second-highest SCD burden in the world, and approximately 20 million carriers and 150,000 to 200,000 affected persons are found in India. ^[1] The consequences of this illness are not only statistical when it comes to health, but they also continue the cycle of poverty and social marginalisation, particularly in tribal societies. This article discusses the extent of the problem, barriers in healthcare delivery, and the strategies needed to eliminate SCD in India.

The geographical distribution of SCD shows alarming rates in central and western India in the states of Maharashtra, Madhya Pradesh, Gujarat, Chhattisgarh, and Odisha, which are the most seriously affected. In those regions, tribes like the Bhils, Gonds, and Paharias have a prevalence of up to 35%, a situation aggravated by genetic factors and cultural practices such as marriage between blood relatives. ^[2] Such agglomeration presents community health emergencies in already fragile communities, where there is a limit of resources and less awareness.

Clinical manifestations of SCD have their onset in infancy, and they continue without a break. Symptoms typically appear around 4–6 months of age, when fetal hemoglobin is replaced by the abnormal sickle hemoglobin. Newborns appear well in the beginning, but this is before the disease causes symptoms. Chronic anemia and severe pain attacks, with obstructive cells in blood vessels causing sustained damage to vital organs, are suffered by the patients. The children might have a retarded growth rate and postponed puberty, and the adults might develop complications like pulmonary hypertension, kidney failure, bone necrosis, and strokes. The mortality rates are very disturbing in that half of the affected children in tribal areas never survive beyond the age of five because of easily treatable complications such as infections or sudden chest syndrome. Survivors tend to have a much shorter life expectancy of 30–40 years instead of 50–60 years, as compared to surviving persons in countries where there is full medical care. ^[3] Beyond these devastating health impacts, the disease also places a crushing burden on families and society.

The socioeconomic consequences are disastrous. The healthcare expenses faced by families with SCD are enormous, with 20–30% of the annual household earnings usually spent on battling the disease. Cases of absenteeism due to disease or the need to provide care to loved ones push households into poverty. The education of children is grossly affected, and this reduces their subsequent opportunities. SCD status is also regarded as a hurdle to marriage and having children. There are prejudices towards women regarding their SCD status, especially long-held misconceptions relating to the disease. The social isolation that follows increases the physical suffering, culminating in a complex crisis. ^[6]

The healthcare system in India is seriously struggling with the challenges caused by systematic faults. Laboratory facilities are extremely meager, and many district hospitals do not even have simple hemoglobin electrophoresis facilities. Treatments like hydroxyurea, which have the ability to reduce complications by up to 50 percent, are hardly affordable by most patients, as they cost between 2000–3000 INR per month and are not prevalent in government hospitals. Branded formulations can cost 2000–3000 INR per month, whereas generics are available for 500–1000 INR but remain underutilized. Blood transfusion services, which play an important role in the treatment of severe anemia, are regularly subject to shortages in tribal parts. Disturbingly, among healthcare providers in the endemic regions, the rates of awareness are too low, meaning that they misdiagnose and undertreat affected persons.

The implementation of the National Sickle Cell Anemia Elimination Mission in the year 2023 is a very critical step. ^[11] It is an ambitious project that aims to eliminate SCD as a community health problem by 2047 as a result of its large-scale screening, special care centers, and community awareness. The strategy seeks to screen 70 million people in the hard-hit areas by 2025–26, an initiative never attempted before, which has the potential to transform how India deals with the disease. ^[12] The success, however, will require addressing significant implementation risks, particularly the remote, unreachable access to areas occupied by tribes and the continued funding. ^[2]

Broad-based approaches must address several fronts simultaneously. The growth of newborn screening programmes may enable early intervention, as it has been found that prophylactic penicillin and immunization can lead to a reduction of deaths in childhood by 70%. ^[4] It is equally essential to improve the healthcare infrastructure at all levels, including basic health facilities that provide such care as pain management and up to tertiary medical institutions that provide such procedures as bone marrow transplantation. ^[5] Specific attention should be given to hydroxyurea treatment; it is one of the revolutionary drugs that cost only 500–1000 INR a month to buy as a generic, yet it remains poorly utilized. ^[6]

All effective interventions should be based on the involvement of the community. Stigma can be addressed by training local health workers, establishing networks to support patients, and implementing education programs in schools. Combining these efforts can improve health-seeking behaviors. ^[8] Many genetic counseling practices are important in making sound reproductive decisions and reducing the transmission of the disease; respect and incorporation of local cultural values are essential. There should be a research priority with special emphasis on genetic variants that are specific to India and modified treatment approaches. ^[9]

It presents a sound economic case for action. Although extensive care of SCD can cost each patient 15,000 to 20,000 Indian rupees every year, it can prevent spending 50,000 to 75,000 rupees in both direct and indirect costs.^[12] This can be demonstrated using the example of other nations; in Bahrain, the mortality rate due to SCD in children was reduced by 90% with the help of newborn screening and comprehensive care provision, whereas Brazil managed to reduce the number of hospitalizations by 40% by increasing the use of hydroxyurea. ^[2]

India is facing a critical point in fighting Sickle Cell Disease. The Elimination Mission will provide a strong framework, and the actual performance will depend on continuous political commitment, neighborhood involvement, and the reinforcement of the health systems. Through a comprehensive approach to SCD containing medical care, social support, and economic empowerment, India can not only alleviate tremendous human suffering but also become a global leader in coping with this genetic disease. It is urgent that something be done right now; future generations will judge us on how we reacted to this looming problem. Strengthening public health efforts today can save thousands of lives tomorrow.

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9) Patra PK, Khodiar PK, Hambleton IR, Serjeant GR. The Chhattisgarh state screening programme for the sickle cell gene: a cost-effective approach to a public health problem. Journal of community genetics. 2015 Oct;6:361-8.

10) Serjeant GR. The natural history of sickle cell disease. Cold Spring Harbor perspectives in medicine. 2013 Oct 1;3(10):a011783.

11) Ware RE. How I use hydroxyurea to treat young patients with sickle cell anemia. Blood, The Journsal of the American Society of Hematology. 2010 Jul 1;115(26):5300-11.

12) WHO. (2021). Sickle cell disease: A strategy for the WHO African Region. World Health Organization.

_(MSM/SE)