“I am free of Pain and can move after 35 years”. Says Victoria Gray, the worlds fist Sickle anaemia patient to recover with revolutionary gene-editing therapy that wan its inventors the Nobel prize in 2020 and now holds out hope to millions around the world, including India, for a permanent cure.

Sickle cell anaemia is a genetic blood disorder caused by a mutation in the haemoglobin gene, leading to the production of abnormal haemoglobin known as haemoglobin S (HbS). This condition primarily affects red blood cells, which become rigid and take on a sickle shape instead of their usual round shape. These sickle-shaped cells can stick together and block small blood vessels, impairing blood flow and oxygen delivery to tissues and organs.

The symptoms of sickle cell anaemia can range from mild to severe and typically include:

1. Anaemia: Sickle cells have a shorter lifespan than normal red blood cells, leading to a shortage of red blood cells and resulting in anemia, which can cause fatigue and weakness.
2. Pain Crises: Episodes of intense and severe pain can occur when sickle-shaped cells block blood flow to various organs and tissues. These pain crises can be unpredictable and can last for hours to days.
3. Increased Susceptibility to Infections: Sickle cell anemia can weaken the immune system, making individuals more prone to infections.
4. Organ Damage: The blockage of blood vessels by sickle cells can lead to organ damage, affecting the spleen, kidneys, lungs, brain, and other organs.
5. Delayed Growth: In children, the reduced oxygen supply due to sickle cell anaemia can affect growth and development.

Management of sickle cell anaemia involves various approaches aimed at preventing complications and managing symptoms. Treatments may include pain management, medications to reduce the frequency of pain crises, blood transfusions, and in severe cases, bone marrow transplants. Additionally, managing the condition involves monitoring for complications, regular medical check-ups, vaccinations to prevent infections, and adopting a healthy lifestyle.

Research and advancements in treatments, such as gene therapy and new medications, offer hope for improved management and potential cures for sickle cell anaemia in the future. Early detection through newborn screening programs and comprehensive care plans are crucial in improving the quality of life for individuals living with this condition.

Gene editing refers to the process of making precise changes to the DNA sequence within an organism's genome.

It involves modifying, adding, or deleting specific sections of DNA. One of the most powerful and precise gene editing techniques is CRISPR-Cas9, which has revolutionized the field of genetics.

CRISPR-Cas9 allows scientists to target a specific section of DNA and make changes with high precision.

It consists of a molecular tool (Cas9 enzyme) that acts like a pair of "molecular scissors" guided by RNA molecules to cut the DNA at a specific location.

This cut triggers the cell's natural DNA repair mechanisms, allowing researchers to introduce desired modifications.

Gene editing holds immense potential for various applications:

1. Medical Treatments: It offers possibilities for treating genetic diseases by correcting or modifying faulty genes. For instance, in diseases like sickle cell anemia or certain types of cancer, researchers are exploring CRISPR-based therapies to correct genetic mutations.
2. Agriculture: Gene editing can be used to enhance crop resistance to diseases, improve nutritional content, and increase crop yields by altering specific genes related to these traits.
3. Research and Understanding: Gene editing allows scientists to manipulate genes in organisms to better understand their functions, disease mechanisms, and developmental processes.
4. Biotechnology and Industry: It has applications in producing biofuels, pharmaceuticals, and various biotech products by modifying microorganisms to enhance their efficiency in producing desired compounds.

However, gene editing also raises ethical concerns, especially regarding the potential for heritable changes in human embryos, germline editing (altering genes passed onto future generations), and unintended consequences of making changes to the genome.

The ethical considerations, potential off-target effects, and the implications of permanent genetic modifications have prompted ongoing discussions and regulatory efforts to establish guidelines and frameworks for responsible use of gene editing technologies. Despite the challenges and ethical considerations, gene editing remains a powerful tool with promising applications across various fields.

Sickle cell anemia is particularly prevalent in regions where malaria is or has been endemic, such as sub-Saharan Africa, parts of the Middle East, India, and some Mediterranean countries. The reason for this is a phenomenon called "balanced polymorphism," where being a carrier of the sickle cell trait (having one copy of the gene) provides some protection against malaria.

The prevalence varies significantly across different populations:

1. Sub-Saharan Africa: Sickle cell disease is most common in this region, affecting millions of people. In certain areas, a significant percentage of the population may carry the sickle cell trait.
2. Middle East: Regions like Saudi Arabia, parts of India, and Mediterranean countries have significant populations affected by sickle cell disease.
3. United States: It's estimated that around 100,000 Americans are affected by sickle cell disease. It primarily affects people of African descent, although it also occurs in other ethnic groups, including Hispanic-Americans and people of Middle Eastern, Asian, and Mediterranean descent.
4. Europe and other regions: Sickle cell anemia is less prevalent in European countries, but it can occur in populations with African, Middle Eastern, Indian, or Mediterranean ancestry.

Efforts to increase awareness, improve healthcare access, and implement screening programs for newborns have been crucial in identifying and managing sickle cell disease. Research into treatments and potential cures continues to be a priority in regions heavily affected by this genetic disorder.

In India, sickle cell disease is a significant health concern, particularly in certain states and regions. The prevalence varies across the country, with higher rates found in central and western India, particularly in states like Maharashtra, Madhya Pradesh, Chhattisgarh, Odisha, and some parts of Gujarat.

The prevalence of sickle cell anemia in India is largely associated with tribal communities, where the incidence is higher compared to the general population. Tribal groups such as the Bhil, Gond, Korku, Kolam, and others have a higher frequency of the sickle cell gene due to historical and geographic factors.

The Indian government has recognized sickle cell disease as a public health issue and has implemented various initiatives to address it. These include:

1. Screening Programs: Some states have implemented newborn screening programs to detect sickle cell disease early, allowing for better management and treatment.
2. Awareness and Education: Efforts are made to raise awareness about sickle cell disease among healthcare professionals and communities, promoting early detection and appropriate care.
3. Treatment and Support: Medical facilities and support services are being developed to provide care and support for individuals affected by sickle cell disease.

Given the diverse population and regional variations across India, the prevalence and impact of sickle cell anemia can vary significantly from one area to another. Efforts continue to focus on improving healthcare access, education, and support systems for individuals and families affected by this condition.