Addressing Sickle Cell Disease in India: The need for newborn screening

Newborn screening (NBS) is a preventive healthcare process that screens infants shortly after birth for disorders that can cause severe illness or death if undetected and untreated. This vital procedure can identify a range of rare diseases, including sickle cell disease (SCD), which affects millions globally and over 20 million people in India alone. Despite its prevalence, sickle cell anaemia remains largely unaddressed in many parts of the world, including India. Implementing mandatory newborn screening can be a game-changer in managing and preventing the disease.

The importance of newborn screening

NBS is essential for early detection of SCD, enabling timely intervention and management to prevent severe complications and improve the quality of life. Sickle cell anaemia is most common in the Indian belt, especially Gujarat, Maharashtra, Chhattisgarh, Odisha, and parts of West Bengal, as well as regions in Tamil Nadu, Kerala, and Telangana. According to the Indian Journal of Medical Research, India has over 20 million patients with SCD. Early detection through newborn screening can identify affected infants and allow healthcare providers to initiate appropriate treatments promptly.

Sickle cell disease is a hereditary blood disorder passed from parents to their children. The condition is characterised by red blood cells that have an irregular, sickle shape, causing them to become stiff and sticky. These sickle-shaped cells can block blood flow in the body’s tiny blood vessels, leading to symptoms such as anaemia, pain crises, swelling in extremities, increased infection risk, impaired growth, and vision problems. Without early intervention, these symptoms can lead to severe health problems and even death.

The role of the government and healthcare providers

The Indian government and healthcare providers play a critical role in increasing awareness and providing access to screening. One of the biggest challenges in addressing sickle cell anaemia in India is the lack of awareness among the general population. Education and awareness campaigns are essential, especially in tribal areas where the disease burden is highest. If SCD is detected and managed in the current generation, it can prevent the disease from being passed on to future generations.

The Union Budget of 2023 emphasised the elimination of Sickle Cell Disease by 2047, highlighting the government’s commitment to addressing this issue. Collaboration between government bodies, private hospitals, and healthcare organisations is crucial in making treatment more accessible, affordable, and available to those in need.

Enhancing healthcare infrastructure

Implementing newborn screening programs for SCD is a significant step toward enhancing healthcare infrastructure. Early detection and intervention can reduce complications and improve the quality of life for children with SCD. Regular screenings throughout childhood can monitor disease progression and identify any arising complications or coexisting conditions.

Healthcare providers must adopt a multidisciplinary approach to managing SCD in children. Pediatric haematologists, nurses, psychologists, and other healthcare professionals should work together to provide comprehensive care. Ensuring proper hydration, prompt pain management, and regular check-ups are essential components of SCD management. Additionally, vaccinations to protect against infections are crucial due to the increased susceptibility caused by functional asplenia, a condition where the spleen does not work properly.

Hydroxyurea, a medication that increases the production of fetal haemoglobin, has shown significant benefits in reducing the frequency and severity of pain crises in children with SCD. However, the biggest challenge in treatment is the unavailability of hydroxyurea in suspension form, which is more effective for pediatric patients. The Indian Council of Medical Research (ICMR) has invited Expressions of Interest for the joint development and commercialisation of low-dose or pediatric oral formulations of hydroxyurea to treat SCD in India.

A call to action

Addressing sickle cell disease in India requires a comprehensive approach involving early detection, increased awareness, and access to effective treatments. Implementing mandatory newborn screening for SCD can significantly improve patient outcomes and reduce the disease burden. Collaborative efforts between the government, healthcare providers, and organizations are essential in this endeavour.

In conclusion, mandatory newborn screening for sickle cell disease is a critical step toward addressing this pressing health issue in India. Early detection and intervention can prevent severe complications, improve the quality of life for affected individuals, and ultimately reduce the prevalence of SCD in future generations. It is imperative that the government, healthcare providers, and stakeholders work together to make this vision a reality.