Model Answer
0 min readIntroduction
Sickle Cell Anaemia (SCA) is a severe, inherited blood disorder characterized by a genetic mutation affecting haemoglobin, the oxygen-carrying protein in red blood cells. This mutation causes red blood cells to become rigid and crescent-shaped, resembling a sickle, instead of their normal flexible, disc-like form. These abnormally shaped cells cannot easily flow through small blood vessels, leading to blockages, oxygen deprivation, and a range of debilitating health issues. It is a form of Sickle Cell Disease (SCD), which is a group of inherited red blood cell disorders.
Understanding Sickle Cell Anaemia
Sickle cell anaemia is an autosomal recessive genetic disorder caused by a mutation in the beta-globin gene on chromosome 11. This mutation results in the production of abnormal haemoglobin S (HbS). When oxygen levels are low, these HbS molecules polymerize, causing red blood cells to deform into a sickle shape. These sickled cells are fragile, have a shorter lifespan, and can get stuck in capillaries, impeding blood flow.
Key Symptoms and Complications
- Chronic Anaemia: Due to premature destruction of sickled red blood cells, leading to fatigue, weakness, and paleness.
- Pain Crises (Vaso-occlusive crises): Periodic episodes of severe pain, often in bones, chest, abdomen, and joints, caused by blocked blood vessels. These can last from hours to days.
- Organ Damage: Reduced blood flow can damage vital organs over time, including the spleen, kidneys, lungs, heart, and brain, increasing the risk of infections, stroke, and acute chest syndrome.
- Delayed Growth and Puberty: Common in children with SCA.
- Jaundice: Yellowing of skin and eyes due to rapid breakdown of red blood cells.
Treatment and Management
While a complete cure is rare, often involving stem cell or bone marrow transplants, management focuses on alleviating symptoms and preventing complications. Treatments include:
- Medications: Such as Hydroxyurea (reduces pain crises and acute chest syndrome) and L-glutamine (reduces frequency of pain crises).
- Blood Transfusions: To manage anaemia and prevent stroke.
- Antibiotics and Vaccinations: To prevent infections, particularly in children.
- Pain Management: To address chronic and acute pain.
India's Efforts to Combat Sickle Cell Anaemia
India bears a significant burden of SCA, especially among tribal populations. In response, the Government of India launched the National Sickle Cell Anaemia Elimination Mission in July 2023, with a vision to eliminate the disease as a public health problem by 2047. The mission focuses on:
- Universal screening of 7 crore people in the 0-40 years age group in affected tribal areas by FY 2025-26.
- Awareness creation and genetic counselling.
- Ensuring access to affordable and quality healthcare for SCD patients.
Conclusion
Sickle Cell Anaemia is a critical genetic disorder posing significant health and socioeconomic challenges, particularly in countries like India with large tribal populations. Its complex pathology leads to chronic pain, organ damage, and reduced life expectancy. While advanced treatments offer hope, broad-based public health interventions, focused screening, and comprehensive management strategies, as envisioned by India's National Sickle Cell Anaemia Elimination Mission, are crucial to mitigate its burden and improve the quality of life for affected individuals.
Answer Length
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