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SICKLE CELL ANEMIA

20th June, 2024

SICKLE CELL ANEMIA

Source: Hindu

Disclaimer: Copyright infringement not intended.

Context

  • India is making significant strides towards developing a gene therapy for sickle cell anemia, a genetic blood disorder with a high prevalence among the Scheduled Tribes.
  • The initiative involves cutting-edge research and extensive ground-level efforts to screen and manage the disease

Details

  • Mission 2047: Part of India's long-term vision to eradicate sickle cell disease by the centennial year of independence.

Gene Therapy Using CRISPR-Cas9

  • Technology: CRISPR-Cas9, a gene-editing tool, is being used to develop a gene therapy for sickle cell anemia.
  • Progress: The Union Tribal Affairs Ministry, in collaboration with AIIMS and CSIR-IGIB, is conducting laboratory tests, with promising results expected by January 2025.
  • Potential: This gene therapy could be a single-dose cure, revolutionizing the treatment of sickle cell anemia in India.

Implementation Strategy

Ground-Level Healthcare Workers

  • ASHAs and Anganwadi Workers: These workers are essential for screening and managing sickle cell disease at the community level.
  • Training and Coordination: The Tribal Affairs Ministry aims to train these workers to effectively implement the screening and management programs.

Screening and Awareness

  • National Conclave: Organized by the Tribal Affairs Ministry and AIIMS to raise awareness and discuss strategies for sickle cell disease management.
  • Screening Goal: The mission includes conducting over seven crore screenings across 17 States and Union Territories, with three crore screenings already completed.

Challenges and Goals

Cost-Effectiveness

  • Affordability: Making the CRISPR-Cas9 gene therapy affordable is a primary challenge.
  • Government Dossier: The mission to eradicate sickle cell disease by 2047 includes making advanced treatments accessible to all affected populations.

Integration of Healthcare Services

  • Multidisciplinary Approach: Collaboration between various ministries and departments to ensure comprehensive care and management.
  • Engagement: Senior officials emphasize the need for direct engagement with grassroots healthcare workers to ensure successful implementation.

Sickle Cell Anemia

  • Sickle cell anemia is a hereditary blood disorder characterized by the production of abnormal hemoglobin, called hemoglobin S or sickle hemoglobin.
  • This causes red blood cells to become rigid and shaped like a crescent or sickle.

Causes and Genetics

  • Genetic Basis: Caused by a mutation in the HBB gene, which encodes the beta-globin subunit of hemoglobin.
  • Inheritance Pattern: Autosomal recessive. A child inherits the disease if both parents carry one sickle cell gene (S) and pass both copies to the child.

Pathophysiology

  • Normal vs. Sickle Hemoglobin: Normal red blood cells are flexible and disc-shaped, while sickle cells are rigid and crescent-shaped.
  • Effect on Blood Flow: Sickle cells can clump together and block blood flow in small blood vessels, leading to pain and potential organ damage.

Symptoms

  • Chronic Symptoms: Anemia, fatigue, jaundice, delayed growth, and puberty.
  • Acute Symptoms (Crises): Severe pain (often in bones, joints, chest, abdomen), acute chest syndrome, infections, and splenic sequestration.

Complications

  • Infections: Increased risk due to spleen damage.
  • Stroke: Due to blocked blood flow to the brain.
  • Acute Chest Syndrome: Life-threatening lung complication.
  • Organ Damage: Particularly affecting the spleen, liver, kidneys, and lungs.
  • Vision Problems: Due to damage to the retina.

Treatment

  • Pain Management: Use of pain relievers and hydration.
  • Blood Transfusions: To treat severe anemia and prevent complications like stroke.
  • Hydroxyurea: Increases fetal hemoglobin production, reducing sickling of cells.
  • Bone Marrow Transplant: Potential cure but involves significant risks.
  • Gene Therapy: Emerging treatment aimed at correcting the defective gene.

Sources:

Hindu

PRACTICE QUESTION

Q.  India is on the cusp of a major breakthrough in the fight against sickle cell anemia through the development of CRISPR-Cas9 gene therapy. Discuss. (10 marks)