Possible UPSC Questions
Prelims (Objective)
- Sickle-cell disease manifests when an individual inherits
A) one normal haemoglobin gene and one sickle gene
B) two copies of the sickle gene, one from each parent
C) one sickle gene and one thalassaemia gene
D) a spontaneous gene mutation after birth - The National Sickle Cell Anaemia Elimination Mission (2023) aims to eradicate SCD as a public-health problem in India by
A) 2030 B) 2037 C) 2047 D) 2057
Mains (150 words)
“Explain the genetic basis of sickle-cell disease and assess India’s strategy to eliminate it by 2047, highlighting key implementation challenges.”
Quick Outline of Key Facts
- Etiology: Point mutation in β-globin gene → abnormal haemoglobin S; RBCs become rigid, sickle-shaped, survive only 10-20 days.
- Inheritance: Autosomal-recessive; two sickle genes → SCD, one sickle gene → asymptomatic carrier (trait).
- Epidemiology (India): ~1 million patients; prevalence 1.17 % (disease) & 5.9 % (trait) – highest in tribal belts of MP, Chhattisgarh, Maharashtra, Odisha, Jharkhand. India holds world’s 2nd-largest burden.
- Clinical picture: Chronic anaemia, painful crises, jaundice, hand-foot swelling; complications – acute chest syndrome, stroke, splenic sequestration, priapism.
- Therapy: Symptom control (hydroxyurea, analgesics), prophylactic antibiotics, transfusions; cure possible via bone-marrow transplant or emerging gene-editing (Casgevy/Lyfgenia, FDA 2023).
- National response: Sickle Cell Anaemia Elimination Mission 2047 – screen & counsel in 17 high-prevalence States, improve drug access, integrate with tribal-welfare drives (e.g., Dharti Aaba Abhiyan).
Summary
Sickle-cell disease (SCD) is a hereditary haemoglobinopathy caused by a single-point mutation in the β-globin gene. When a child inherits both mutated genes, red blood cells distort into rigid, crescent-shaped “sickles.” These cells occlude micro-vasculature, provoke episodic “pain crises,” damage organs through oxygen starvation and survive barely a sixth of the normal red-cell lifespan, producing chronic haemolytic anaemia. Individuals inheriting only one mutated gene remain largely asymptomatic carriers but can pass the trait to offspring.
A 2024 meta-analysis estimates India’s SCD prevalence at 1.17 % and carrier rate at 5.9 %, translating to roughly one million patients. The burden clusters in tribal districts of Madhya Pradesh, Chhattisgarh, Maharashtra, Odisha and Jharkhand, making SCD both a medical and socio-economic challenge: anaemia limits productivity, recurrent pain crises disrupt schooling, and tertiary interventions are distant.
Disease manifestation begins in early childhood with pallor, jaundice, dactylitis and repeated infections. Later complications include acute chest syndrome (life-threatening pulmonary vaso-occlusion), ischaemic stroke, splenic sequestration of RBCs and priapism. Standard management focuses on prevention and palliation: hydroxyurea boosts foetal haemoglobin and reduces crises; regular transfusions avert stroke but risk iron overload; penicillin prophylaxis wards off sepsis. Curative options are limited to matched-donor bone-marrow transplant—costly and logistically demanding—or nascent gene-editing therapies. In December 2023, the U.S. FDA cleared CRISPR-based Casgevy and viral-vector Lyfgenia for patients ≥12 years, and the first paediatric infusion occurred in May 2024, signalling future possibilities for India, albeit at high cost.
Recognising the scale, the Government launched the National Sickle Cell Anaemia Elimination Mission (2023), pledging to eliminate SCD as a public-health problem by 2047. Priorities include universal screening of adolescents and antenatal couples in 17 high-prevalence States, genetic counselling to prevent trait-to-disease transmission, uninterrupted hydroxyurea supply through primary-health centres and creation of transfusion & transplant hubs. The programme dovetails with tribal-centric outreach such as Dharti Aaba Janbhagidari Abhiyan, which stages mass screening camps on World Sickle Cell Day (19 June) to honour this year’s theme, “Global Action, Local Impact.”
Still, obstacles persist: stigma delays testing, rural labs lack HPLC equipment, and hydroxyurea procurement is patchy. Achieving Mission 2047 will require sustained funding, community education, empowered ASHA workers and eventual integration of affordable gene therapy.
Significance to the UPSC Exam
- GS III – Health & Disease: Illustrates genetic disorders, public-health missions, frontier therapies.
- GS II – Welfare & Governance: Shows how health policy intertwines with tribal development and SDG targets.
- Essay & Ethics: Offers material on equity in healthcare, scientific innovation vs. accessibility, and community empowerment in disease prevention.
