World Sickle Cell Day: Strategies to eliminate sickle cell anaemia in India by 2047

Mumbai: The World Health Organization (WHO) on Thursday released its first-ever global guideline on the management of sickle cell disease (SCD) during pregnancy, addressing a critical and growing health challenge that can have life-threatening consequences for both women and babies.

SCD is a group of inherited blood disorders characterized by abnormally shaped red blood cells that resemble crescents or sickles. These cells can block blood flow, causing severe anaemia, episodes of severe pain, recurrent infections, as well as medical emergencies like strokes, sepsis, or organ failures.

As per multiple studies, India is the second largest in the burden of sickle cell disease. What is the reason behind the extreme conditions in India? And how to take precautions? Experts answer popular questions:

Dr Harsha Prasad L, Consultant - Pediatric Hemato Oncology, KMC Hospital, Mangalore, said that India has the world’s second highest burden of SCD, particularly in tribal communities in states including Madhya Pradesh, Maharashtra, Chhattisgarh, Odisha, and Gujarat. “The genetic blood disorder results in a rigidity and sickle shape of red blood cells, which results in intense pain, anemia, organ damage, and increased infection risk. This high frequency in India is primarily the result of the presence of the sickle hemoglobin gene (HbS) being inherited because of its protective benefit against malaria, which explains why the allele remains in malaria-endemic areas,” he added.

Dr Prasad L said that excessive forms of the disease are seen in the absence of awareness, late diagnosis, poor access to healthcare, and poor availability of disease-modifying agents like hydroxyurea or support of blood transfusion. “Socio-economic obstacles aggravate these already high levels of problems in many rural and tribal regions. Preventive intervention should be based on compulsory screening of newborns, particularly in epidemic areas, genetic counseling before marriage, health education, and accessibility to an earlier diagnosis and regular medical treatment. Government programs, such as the National Sickle Cell Elimination Program, are a good start, but ongoing community action and investment in health are the key to making a dent and reducing the disease burden and enhancing QOL in sickle cell patients,” he added.

Speaking of states in India where SCA is more prevalent, Dr Mallikarjun Kalashetty, Consultant - Haematology, Haemato Oncology & Bone Marrow Transplantation, Manipal Hospital Old Airport Road, Bengaluru said that we observe higher prevalence in states like Chhattisgarh, Odisha, Maharashtra, Madhya Pradesh, Gujarat, and parts of Jharkhand and Andhra Pradesh.

“The gene frequency of the sickle cell carrier state in certain regions ranges from 10% to 40%, with certain tribal groups like Gond, Bhil, and Baiga showing even higher rates. The disease is inherited in an autosomal recessive manner, and homozygous individuals, having both affected alleles (SS), suffer from chronic haemolytic anaemia, pain crises, and multi-organ complications. Families dealing with SCD face immense physical, emotional, and financial burdens. Repeated hospital visits, chronic pain, and school absenteeism limit children's development. Adults struggle with employment and societal participation,” Dr Kalashetty added.

In India, many regions lack access to diagnostic facilities, specialized care, and essential medications like hydroxyurea. Social stigma and poor awareness further worsen the plight. Several factors contribute to its high incidence in India. These include consanguineous marriages, lack of awareness, inadequate screening programs, and limited access to early diagnosis and comprehensive care. The persistence of the sickle gene in tribal populations is also attributed to evolutionary protection against malaria, where the carrier state confers some resistance.

Way Forward – Tackling the Problem: (Inputs by Dr Kalashetty)

• Widespread Screening: Early detection through newborn and antenatal screening programs.
• Public Awareness: Educating communities to reduce stigma and promote genetic counselling.
• Accessible Care: Establishing SCD clinics in high-prevalence areas with free or subsidized treatment.
• Research and Policy: Supporting research on Indian-specific genetic variants and implementing the National Sickle Cell Mission effectively.

National efforts, including the 2023 launch of the National Mission to Eliminate Sickle Cell Anaemia by 2047, aim to improve screening, counselling, and treatment access, especially in vulnerable populations, to reduce disease burden and improve quality of life. A coordinated, multi-sectoral approach is crucial to reduce suffering and eliminate the burden of SCA by 2047.

Speaking of hereditary concerns, Dr Anoop P, Sr. Consultant - Haematology, Haemato-Oncology, Paediatric Haemato-Oncology & Bone Marrow Transplant, Aster Whitefield Hospital, Bengaluru, said that several people are unaware they are carriers of the sickle cell trait themselves. “It is hereditary, and if both parents are carriers, the child may be born with the disease. Due to a lack of knowledge and improper access to medical facilities in most regions, it is typically not detected until it reaches a severe stage,” Dr P added.