What is Sickle Cell Anaemia?
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Sickle Cell Anaemia is a genetic blood disorder caused
by a mutation in the HBB gene, leading to the production of abnormal
haemoglobin (HbS). When oxygen levels drop, red blood cells take a rigid,
crescent-like shape instead of being round and flexible, which blocks blood
circulation and reduces oxygen supply.
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The disease follows an autosomal recessive inheritance
pattern. Individuals with one abnormal gene are carriers (Sickle Cell Trait)
and mostly symptom-free, while those with two abnormal genes develop the
full-blown disease.
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Globally, the WHO estimates over 3 lakh babies are born
with SCD annually, with the highest prevalence in Sub-Saharan Africa and South
Asia. India ranks third globally after Nigeria and the Democratic Republic of
Congo, with around 15,000–25,000 new cases each year, mostly concentrated in
tribal belts such as Madhya Pradesh, Chhattisgarh, Odisha, and Maharashtra.
Symptoms
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Patients often suffer from chronic anaemia due to the
short lifespan of sickled red blood cells, leading to fatigue, weakness,
paleness, and breathlessness.
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They experience pain crises, also known as sickle cell
crises, where blood vessel blockages cause episodes of severe pain in bones,
chest, abdomen, and joints, sometimes requiring hospitalisation.
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Children with SCD face growth retardation and delayed
puberty due to inadequate oxygen supply to tissues, which hampers normal
development.
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Recurrent infections are common because the spleen,
which fights infections, gets damaged early in life. Patients are highly
vulnerable to pneumonia, sepsis, and malaria.
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Over time, SCD causes multi-organ damage, affecting
kidneys, liver, heart, lungs, eyes, and even leading to strokes. These
complications significantly reduce life expectancy, with most patients in India
surviving only till their 40s–50s.
Treatment Options
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Blood transfusions are frequently used to manage
anaemia and reduce complications like stroke, though they bring risks like iron
overload and require careful medical supervision.
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Hydroxyurea, a low-cost oral drug, helps increase
foetal haemoglobin levels, which reduces sickling of cells. It lowers the
frequency of pain crises and improves overall survival, though access in rural
areas remains limited.
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Bone marrow and stem cell transplantation is the only
established cure, but it requires a genetically matched donor, advanced medical
infrastructure, and involves very high costs, limiting its reach.
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Gene therapy, particularly CRISPR-based techniques such
as Casgevy and Lyfgenia (FDA approved in 2023), offers a permanent cure by
editing stem cells. However, costs of USD 2–3 million per patient make it
currently unaffordable in India.
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Supportive care measures, such as folic acid
supplements, vaccines, infection prevention, and psychosocial support, remain
the most realistic management option for most patients in India.
Challenges in India
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India’s tribal communities, which make up 8.6% of the
population (over 10 crore people), are disproportionately affected by SCD, yet
they remain underserved due to their remote locations and weak healthcare
delivery.
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Awareness levels are very low among the public and
healthcare providers. Many tribal families consider the disease a curse or
taboo, which leads to stigma, poor treatment-seeking behaviour, and social
exclusion.
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Healthcare infrastructure in rural areas is inadequate,
with a shortage of trained doctors, diagnostic facilities like HPLC machines,
and treatment centres. This delays diagnosis and management.
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The financial burden of long-term treatment is high,
with costs of regular transfusions, hospitalisations, and advanced therapies
being unaffordable for most families, pushing them into debt.
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Screening programmes are inconsistent across states.
Lack of newborn and premarital screening leads to late detection, by which time
the patient already develops serious complications.
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Although the RPWD Act, 2016 recognises SCD as a
disability, the quota benefits for government jobs and higher education largely
exclude SCD patients because the certification process relies on a rigid “40%
disability” benchmark that does not reflect the fluctuating and invisible
nature of the disease.
Government Initiatives
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The National Sickle Cell Anaemia Elimination Mission
(2023) aims to eliminate the disease as a public health problem by 2047. It
focuses on mass community screening, genetic counselling, newborn and prenatal
testing, and digital tracking through the National Sickle Cell Portal. Already,
more than 3.3 crore people have been screened, with a target of 7 crore by
2026.
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The National Health Mission (2013) includes sickle cell
management under hereditary diseases, provides awareness campaigns, and lists
hydroxyurea in its essential medicines list to improve availability.
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The National Guidelines for Stem Cell Research (2017)
regulate the clinical use of bone marrow transplantation for SCD, while the
National Guidelines for Gene Therapy (2019) provide a framework for
gene-editing-based treatment research.
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State-level initiatives, such as the Madhya Pradesh
Haemoglobinopathy Mission, are focusing on screening tribal populations,
improving diagnosis, and providing medicines locally.
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Under the Rights of Persons with Disabilities (RPwD)
Act, 2016, SCD is recognised as one of the 21 disabilities, granting
entitlements such as reservation in higher education and government schemes.
However, the benefits are not fully realised due to flaws in certification and
lack of awareness.
World Sickle Cell
Awareness Day
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Observed every year on 19th June, the day is meant to
raise awareness, fight stigma, and promote global cooperation in treatment and
research.
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The 2024 theme, “Hope Through Progress: Advancing
Sickle Cell Care Globally”, underlined the importance of innovation in treatment
and the role of community support in improving patient lives.
Way Forward
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India must focus on universal newborn and premarital
screening, backed by effective genetic counselling to prevent the spread of the
disease to the next generation.
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There is a need to expand specialised healthcare
infrastructure in tribal regions by setting up diagnostic labs, SCD treatment
centres, and deploying mobile health units to improve accessibility.
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Ensuring the affordable and consistent supply of
hydroxyurea and other essential drugs at government facilities will help reduce
patient suffering and improve survival rates.
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Large-scale awareness campaigns in local languages are
essential to break myths and reduce stigma associated with SCD, especially in
tribal communities.
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India must invest in indigenous research for gene
therapy and stem cell treatments to reduce costs and make curative options
accessible in the long run. Collaborations with international agencies can
bring technical and financial support.
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Policy reforms are required to simplify disability
certification and extend quota benefits to SCD patients, recognising their
lived experiences of chronic pain, organ damage, and social exclusion.
Conclusion
Sickle Cell Anaemia is not only a genetic disorder but also a social justice and public health issue in India. It disproportionately affects the most marginalised communities, deepening health inequities. With the government targeting elimination by 2047, success will depend on strong political will, effective screening, affordable treatment, and community engagement. A rights-based approach that combines healthcare delivery with social protection can transform the fight against SCD, aligning India’s goals with the Sustainable Development Goals (SDGs) on health, equality, and inclusion.
