Sickle Cell Anaemia

Sickle Cell Anaemia is a hereditary genetic disorder affecting haemoglobin, the oxygen-carrying component of blood.
- Haemoglobin has two alpha and two beta subunits, and mutations in the beta gene cause red blood cells to become sickle-shaped like the letter “C.”
Normal red blood cells are flexible and move smoothly through blood vessels, whereas sickle-shaped cells become rigid, slowing or blocking blood flow.
They also have a shorter lifespan, leading to reduced oxygen supply and causing complications such as chronic anemia, pain, fatigue, acute chest syndrome, and stroke.

India has the highest prevalence in South Asia, with over 20 million affected individuals.
Highly prevalent among tribal populations (e.g., Bhil, Gond, Madia) and is concentrated in the central belt (Gujarat, Maharashtra, Chhattisgarh, Odisha), with pockets in southern states.
Key challenges include low awareness, inadequate screening, and poor healthcare access in rural/tribal areas.

Sickle cell anaemia is a hereditary disorder, making its complete elimination difficult without major scientific advances.
At present, the only potential cures are gene therapy and stem cell transplantation—both expensive and still under development.
Gene therapy works by modifying the DNA of the haemoglobin gene to correct the defect, while stem cell transplantation involves replacing the diseased bone marrow with healthy donor marrow; both approaches are currently in clinical trial stages worldwide.
In the absence of definitive cures, blood transfusion remains a commonly used treatment, though it faces challenges such as limited donor availability, concerns over safe blood supply, and the risk of infections.

In 2023, the Government of India launched the National Sickle Cell Anaemia Elimination Mission to address the pressing health challenges posed by sickle cell disease, particularly among the tribal population.
The mission marks a crucial milestone in the Government’s ongoing efforts to eliminate sickle cell disease as a public health problem by 2047.

In India, Sickle Cell Anaemia is recognized as a disability under the Rights of Persons with Disabilities Act, 2016 (RPWD Act), and individuals with this condition may be eligible for certain rights and benefits afforded to persons with disabilities.

The Ministry of Tribal Affairs recently organized a workshop on “BIRSA 101”, India’s first indigenous CRISPR-based gene therapy for Sickle Cell Disease.

CRISPR, which stands for Clustered Regularly Interspaced Short Palindromic Repeats, is a revolutionary gene-editing technology that allows scientists to locate and correct errors in DNA, the genetic blueprint inside every cell of the human body, with extraordinary precision.
It works using a protein calledCas9, which acts like molecular scissors. A protein is a biological molecule that performs specific tasks inside the body.
A separate guide molecule, essentially a GPS signal, directs these scissors to the exact location of the error in the DNA. The scissors cut, and the cell repairs itself using a corrected version of the instruction.

“BIRSA 101”, named after Bhagwan Birsa Munda, aims at elimination of Sickle Cell Disease, which particularly affects India’s tribal population.
It was developed by the CSIR–Institute of Genomics and Integrative Biology (IGIB).
CSIR-IGIB is a premier Institute of CSIR, engaged in research of national importance in the areas of genomics, molecular medicine, bioinformatics and proteomics.
The CRISPR system used in BIRSA 101—enFnCas9—is a guided protein that has the capacity to directly correct the mutation in the HBB gene responsible for producing sickle haemoglobin.
The indigenous platform is expected to significantly reduce treatment costs, offering new hope to affected communities.

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