Gene Therapy for Haemophilia A

Scientists in India have reported success with using gene therapy to treat severe haemophilia A, a rare hereditary condition resulting from a faulty gene which triggers severe, spontaneous, and potentially fatal bleeding Episodes.

About Hemophilia A

• Hemophilia A, also known as classical haemophilia, is a rare and genetic bleeding disorder caused by insufficient levels of a blood protein called factor VIII. 
  • Factor VIII is a clotting factor (an essential protein required for blood to clot and stop bleeding).
• Caused by: Hemophilia A is caused by disruptions or changes (variants or mutations) to the F8 gene located on the X chromosome. 
• Susceptibles: Hemophilia A is mostly expressed in males but some females who carry the gene variant may have mild or, rarely, severe symptoms of bleeding. 

About Hemophilia A

• Hemophilia:  Group of rare bleeding disorders caused by a congenital deficiency in specific clotting factors
  • Most prevalent form is Hemophilia A
• Males are much more likely to have hemophilia than are females.

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Why is it more prevalent in males?

• 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. 
• Females can have hemophilia A if they inherit two defective copies, one from each parent (much less common). 

About Gene Therapy For Haemophilia

• Gene therapy, Roctavian, was approved by the U.S. Food and Drug Administration for commercial use in 2023. 
• It works by transporting the therapeutic gene into the body by using an adenovirus as a carrier or vector and involves the liver in producing Factor VIII.