SICKLE CELL DISEASE

Sickle-Cell Disease:

  • Inherited blood disorder caused by a genetic mutation in haemoglobin.
  • Inheritance of two mutated β-globin genes, one from each parent, leading to the production of abnormal haemoglobin, known as sickle haemoglobin.
  • RBCs become sickle-shaped, rigid, and less efficient in oxygen transport.
  • Leads to anaemia, pain, organ damage, and reduced lifespan.
  • Tribal populations are most vulnerable in India (as per Health Ministry).

Symptoms:

  • Chronic anaemia – fatigue, weakness, paleness.
  • Painful crises – sudden, severe pain in bones, chest, limbs.
  • Delayed growth and puberty in children.

Treatment:

  • Blood transfusions – manage anaemia and reduce pain crises.
  • Hydroxyurea – lowers frequency of pain and complications.
  • Gene therapy – advanced treatment via CRISPR and bone marrow/stem cell transplant.

Prevalence

  • India ranks 2nd globally in SCD prevalence, after Sub-Saharan Africa.
  • SCD is a serious public health issue, especially among tribal communities.
  • High burden due to limited healthcare, misconceptions, and low awareness.

ISSSI – India’s First SCD Stigma Scale

  • Indian Council of Medical Research (ICMR) developed the ICMR-SCD Stigma Scale for India (ISSSI).
  • First stigma scale in India, and 4th globally.
  • Two components:
    • ISSSI-Pt (for patients)
    • ISSSI-Cg (for caregivers)
  • Captures multi-dimensional stigma:
    • Familial & reproductive
    • Social disclosure
    • Illness burden
    • Interpersonal & healthcare interaction

Government Initiatives Regarding Sickle Cell Disease (SCD) in India:

National Sickle Cell Anaemia Elimination Mission (2023):

  • Goal: Eliminate SCD as a public health issue by 2047.
  • Focus on screening, awareness, early detection, and treatment.
  • CSIR developing gene-editing therapies under this mission.

National Health Mission (NHM), 2013:

  • Flagship health program with focus on hereditary disorders, including SCD.
  • Activities include:
    • Awareness campaigns
    • Early detection & timely treatment
    • Provision of Hydroxyurea under Essential Medicines List.

National Guidelines for Stem Cell Research, 2017:

  • Commercial stem cell therapy banned (except for Bone Marrow Transplant in SCD).
  • Gene editing on stem cells allowed only in lab-based (in-vitro) studies.

National Guidelines for Gene Therapy Product Development & Clinical Trials, 2019:

  • Provides roadmap for developing and testing gene therapies.
  • India approved a 5-year CRISPR research project for SCD treatment.

State Haemoglobinopathy Mission – Madhya Pradesh:

  • Addresses localised challenges in SCD screening and management.
  • Model for other high-prevalence states.

Rights of Persons with Disabilities (RPwDs) Act, 2016:

  • SCD listed among 21 benchmark disabilities.
  • Entitlements for SCD patients:
    • Reservation:
      • 5% in higher education
      • 4% in government jobs
      • 5% in land allocation
    • Free education for children (age 6–18) with benchmark disability.

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