Science & Technology
Gene Therapy for Hemophilia A
- 04 Mar 2024
- 8 min read
For Prelims: National Science Day , Hemophilia A, DNA technology, Raman Effect, Global Innovation Index, Maya OS , Chandrayaan-3 Mission, Gaganyaan mission.
For Mains: Gene Therapy for hemophilia A, India’s Achievements in Science and Technology.
Why in News?
Recently, the Union Minister of Science & Technology addressing the National Science Day 2024 programme stated that India conducted its first human clinical trial of gene therapy for hemophilia A (FVIII deficiency) at Christian Medical College (CMC) Vellore.
- India's progress in science and technology (S&T) was also highlighted at the event.
What is Hemophilia A?
- About: Hemophilia is a group of rare bleeding disorders caused by a congenital deficiency in specific clotting factors. The most prevalent form is Hemophilia A.
- Hemophilia A results from a deficiency in a crucial blood clotting protein known as factor VIII.
- Due to this deficiency, individuals experience prolonged bleeding after injuries, as their blood takes longer to clot than usual.
- Causes: It is primarily inherited (genetic) and follows an X-linked recessive pattern, meaning the gene responsible for factor VIII production is located on the X chromosome.
- Males have one X and one Y chromosome, while females have two X chromosomes.
- If a male inherits an X chromosome with the defective gene from his mother, he will have hemophilia A.
- Females with one defective copy typically do not experience symptoms because the other X chromosome usually provides enough factor VIII.
- However, females can have hemophilia A if they inherit two defective copies, one from each parent (much less common).
- Males have one X and one Y chromosome, while females have two X chromosomes.
- Symptoms: The severity of hemophilia A varies depending on the level of factor VIII activity in the blood. Common symptoms can include:
- Easy bruising and excessive bleeding from minor injuries (cuts, scrapes)
- Bleeding in the joints (especially knees, elbows, and ankles), causing pain, swelling, and stiffness
- Bleeding after surgery or dental procedures.
- Treatment: The treatment involves replacing the missing blood clotting factor so that the blood can clot properly. This is typically done by injecting treatment products, called clotting factor concentrates, into a person’s vein. The two main types of clotting factor concentrates available are:
- Plasma-derived Factor Concentrates: Derived from human plasma, which is the liquid component of blood containing various proteins, including clotting factors.
- Recombinant Factor Concentrates: Introduced in 1992, recombinant factor concentrates are genetically engineered using DNA technology and do not rely on human plasma.
- They are free from plasma or albumin, eliminating the risk of transmitting bloodborne viruses.
- However, gene therapy is now gaining prominence.
- In recent trials, they used a new method that involves using a special type of virus called a lentiviral vector to insert a gene that produces FVIII into the patient's own stem cells.
- These modified stem cells then produce FVIII when they develop into specific types of blood cells.
- Acquired Hemophilia A: While Hemophilia A is typically inherited, it can also be acquired later in life as a result of auto-antibodies targeting factor VIII.
- This condition, known as acquired hemophilia A, is rare and differs from the congenital form in its onset and progression.
Note
World Haemophilia day is celebrated on 17th April every year, aiming to increase awareness about hemophilia and other inherited bleeding disorders. The day is celebrated in the honor of Frank Schnabel, founder of the World Federation of Haemophilia (WHF).
What is National Science Day?
- The National Science Day is celebrated on 28th February every year to commemorate the discovery of ‘Raman Effect’ in 1928 by Sir Chandrasekhara Venkata Raman, which led to the Nobel Prize being awarded to him in 1930.
- Raman effect is a method for identifying materials based on how they scatter light.
- By shining light on a substance, scientists can analyze the unique way it interacts with molecules, revealing its chemical composition and structure.
- The purpose of celebrating this day is to enhance scientific temper, popularization of science and encouraging innovative activities by infusing scientific temperament in the masses and creating a positive scientific research culture.
- Theme for National Science Day 2024: 'Indigenous Technologies for Viksit Bharat.'
What are India's Recent Advancements in Science and Technology?
- India has emerged as the world's third-largest startup ecosystem, boasting over 100 unicorns, showcasing remarkable entrepreneurial growth.
- The bio-economy sector has witnessed an extraordinary 13-fold increase in the past decade, reaching a staggering USD 130 billion in 2024.
- India ranks among the top five countries for scientific research publications and holds the 40th position in the Global Innovation Index (GII), highlighting its commitment to innovation.
- Groundbreaking initiatives like the Aroma Mission and Purple Revolution have revolutionized agriculture, fostering a thriving community of agri-startups.
- The development of Maya OS by the Indian Defence Research and Development Organisation has bolstered cybersecurity measures, protecting against online threats from foreign entities.
- India's intellectual property landscape is experiencing a surge, with patent filings surpassing 90,000, marking the highest in two decades.
- The successful Chandrayaan-3 Mission has showcased India's prowess in space exploration, paving the way for the historic Gaganyaan mission.
- Related Government Initiatives:
UPSC Civil Services Examination, Previous Year Question (PYQ)
Q. How is science interwoven deeply with our lives? What are the striking changes in agriculture triggered by science-based technologies? (2020)
