Sickle Cell

Context (TH): India bears the world’s second-largest burden of sickle cell disease (SCD).
Sickle cell disease is a genetic disorder caused by an abnormality in haemoglobin. When both parents carry the sickle cell trait, their child has a significant chance of being born with it.

About Sickle Cell Disease

SCD is a group of inherited red blood cell (RBC) disorders that affect haemoglobin, the protein that carries oxygen through the body.
Normally, RBCs are flexible disc-shaped cells that move easily through blood vessels.
In SCD, RBCs become crescent or sickle-shaped due to a genetic mutation of haemoglobin.
These sickled RBCs do not bend or move easily and can block blood flow to the rest of the body.
Symptoms/complications of SCD: Pain, anaemia, jaundice, stroke, organ failure etc.
Treatment: A blood and bone marrow transplant was the only cure for SCD, but it was not for everyone because of the dearth of donors and the associated risk.

Over a million people in the country are affected, with a majority concentrated in the tribal belt spanning Odisha, Jharkhand, Chhattisgarh, Madhya Pradesh, and Maharashtra.
Patients with sickle cell disease face a significantly reduced lifespan, with life expectancy shortened to around 40 years. The disease drastically affects their quality of life due to continuous health problems.
Individuals with SCD are often viewed as “genetically inferior” and are sometimes ostracised, with the condition being misattributed to “God’s curse” or “black magic.”
Government has launched the National Sickle Cell Anaemia Elimination Mission in 2023.
Currently, only 18% of affected individuals in India receive consistent treatment for sickle cell disease. Drop-offs are at various stages – screening, diagnosis, treatment initiation, and adherence.
While there is no permanent cure for SCD, affordable drugs like hydroxyurea can improve a patient’s quality of life if taken consistently. However, access to these medicines is unreliable.
Medication shortages and low vaccination coverage further complicate disease management.

Gene-editing therapy has been successfully used in the UK to cure SCA patient.
The drug Casgevy, uses the gene-editing tool CRISPR-Cas9 (Clustered Regularly Interspaced Short Palindromic Repeats and associated protein 9) for this purpose.
This therapy involves modifying the patient’s DNA by specifically targeting and replacing the faulty haemoglobin gene with a healthy one.
To do this, stem cells are taken out of the bone marrow, edited, and infused back into the patient.
This restores normal haemoglobin function, offering a potential cure for a lifetime.

CRISPR-Cas9 is a revolutionary gene-editing therapy that won the Nobel Prize in Chemistry in 2020.

India has the second-highest disease burden of SCA globally after African countries.
An estimated 30,000-40,000 children in India are born with the disorder every year.
It is more prevalent among India’s tribal population; SCA affects one in 86 births among the Scheduled Tribe (ST) population.
SCA is highly prevalent in 15 Indian states, with Maharashtra leading in incidence.

Under NHM, GoI supports the states for prevention and management of SCA.
NHM aims for universal access to affordable, quality healthcare services that are accountable and responsive to people’s needs.

It has been established in MP to tackle the challenges in screening and managing SCA.
It was launched in 2021.

NSCAEM aims to eliminate SCA as a public health problem in India before 2047.
It was introduced in the Union Budget 2023.
It is being implemented in 17 states: Gujarat, Maharashtra, Rajasthan, MP, Jharkhand, Chhattisgarh, WB, Odisha, TN, Telangana, Andhra Pradesh, Karnataka, Assam, UP, Kerala, Bihar, and Uttarakhand.
It is executed in a mission mode as part of the National Health Mission (NHM).