News Excerpt:

Union Minister of Science & Technology revealed on National Science Day (28 Feb) that India has conducted the first human clinical trial of gene therapy for haemophilia A (FVIII deficiency) at Christian Medical College (CMC) Vellore. 

About the Haemophilia Gene Therapy trial:

• The programme is supported by the Department of Biotechnology, the Centre for Stem Cell Research - a unit of InStem Bengaluru, in collaboration with Emory University, USA at Christian Medical College, Vellore.
• The trials involved deploying a novel technology of using a lentiviral vector to express an FVIII transgene in the patient’s own haematopoietic stem cell which will then express FVIII from specific differentiated blood cells.

About Haemophilia:

• Hemophilia A, also called factor VIII (8) deficiency or classic hemophilia, is a genetic disorder caused by missing or defective factor VIII (FVIII), a clotting protein. 
  • Although it is passed down from parents to children, about 1/3 of cases found have no previous family history.
• Haemophilia is passed down from parents to children.
• Haemophilia is a sex-linked disorder. The X and Y sex chromosomes help determine haemophilia inheritance patterns. 
• The gene for hemophilia is carried on the X chromosome. Hemophilia is inherited in an X-linked chromosome in the following recessive manner. 
  • Females inherit two X chromosomes, one from their mother and one from their father (XX). 
  • Males inherit an X chromosome from their mother and a Y chromosome from their father (XY). 
  • That means if a son inherits an X chromosome carrying hemophilia from his mother, he will have hemophilia.
  • It also means that fathers cannot pass hemophilia on to their sons.

Symptoms of Haemophilia:

• People with hemophilia A bleed longer than other people. Bleeds can occur internally, in joints and muscles, or externally, from minor cuts, dental procedures, or injuries. 
• How often a person bleeds and the severity of those bleeds depends on how much FVIII a person produces naturally.
• Normal levels of FVIII range from 50% to 150%. Levels below 50% – or half of what is needed to form a clot, determine a person’s symptoms.

Treatment for Haemophilia:

• The main medication to treat hemophilia A is a concentrated FVIII product, called clotting factor or simply factor. 
• There are two types of clotting factor: plasma-derived and recombinant. 
• Plasma-derived factor is made from human plasma. 
• Recombinant factor products are developed in a lab using DNA technology. 
• While plasma-derived FVIII  products are still available, approximately 75% of the hemophilia community takes a recombinant FVIII product.
• Many new treatments for hemophilia A are being developed, from gene therapy to new non-factor replacement therapies. 

National Science Day:

• In 1986, the Government of India, under the then Prime Minister Rajiv Gandhi, designated February 28 as National Science Day to commemorate the announcement of the discovery of the “Raman Effect”.
• The Raman effect is a change in the wavelength of light that occurs when a light beam is deflected by molecules. 

• This was the discovery that won physicist Sir CV Raman his Nobel Prize in 1930.

Sir CV Raman: