Gene Therapy for Hemophilia A | 04 Mar 2024

Source:PIB 

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). 
• 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. 

What is National Science Day?  

• The National Science Day is celebrated on 28^th 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:  
  • India Semiconductor Mission 
  • Artificial Intelligence Mission 
  • Unified Payment Interface 
  • INS Vikrant 
  • Bharat 6G project 
  • Initiative on Critical and Emerging Technology (India and US)