World Sickle Cell Awareness Day

June 19 is observed as World Sickle Cell Awareness Day and this year’s theme is: ‘Global Action, Local Impact: Empowering Communities for Effective Self-Advocacy.’

Understanding Sickle Cell Disease (SCD)

• Nature of the Disease: SCD is a group of inherited blood disorders.
• Genetic Basis: It results from a genetic mutation that causes the body to produce abnormal hemoglobin.
  • Hemoglobin’s Role: Hemoglobin is an iron-containing protein in red blood cells crucial for oxygen transport from the lungs to the body.
• Impact on Red Blood Cells:
  • Healthy RBCs: Are round, flexible, and efficiently deliver oxygen.
  • Sickle RBCs: Due to abnormal hemoglobin, they become sickle-shaped (crescent-like), rigid, and sticky.
  • Fragility & Lifespan: Sickle red blood cells are fragile, lasting only 10-20 days compared to 90-120 days for normal red blood cells, leading to anemia (lower red blood cell count).
• Inheritance: SCD is inherited. A child develops the disease if they inherit two copies of the sickle cell gene (one from each parent).

Treatment and Management of SCD

• Bone Marrow (Stem Cell) Transplant:
  • Cure: It’s a potential cure for SCD.
  • Procedure: Involves replacing the patient’s bone marrow with healthy, genetically matched donor bone marrow.
  • Challenges: Involves risks, may not be suitable for all patients, and is expensive.
• Medications: Used to manage symptoms and complications:
  • Lessen pain crises.
  • Lower the risk of anemia.
  • Improve blood flow.
• Gene Editing Therapy (Recent Advancement):
  • Breakthrough: Became possible recently.
  • FDA Approval (December 2023): The U.S. Food and Drug Administration (FDA) approved two first-of-their-kind cell-based gene therapies for SCD in patients aged 12 and older:
    • Casgevy
    • Lyfgenia

India’s Initiative

• National Sickle Cell Anaemia Elimination Mission:
  • Launch: Launched by the Centre in 2023.
  • Goal: To eliminate sickle cell disease as a public health problem by 2047.

(Source: TH)