Gene Therapy For Hemophilia A:
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.
- 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.
- 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
- 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.
