What is Haemophilia?
30-12-2022
1 min read
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Overview:
Recently, U.S. drugmaker Pfizer Inc said that its experimental gene therapy for the treatment of Haemophilia B, met its main goal in a late-stage study.
Why in news?
- Data from the study showed that a single dose of the therapy was superior to the current standard of care in helping reduce the bleeding rate in patients with moderately severe to severe forms of haemophilia B.
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What is Haemophilia?
- It is a medical condition, mostly inherited, in which the ability of blood to clot is severely reduced.
- This disease is caused by a mutation in one of the genes, that provides instructions for making the clotting factor proteins needed to form a blood clot.
- This change or mutation can prevent the clotting protein from working properly or to be missing altogether. These genes are located on the X chromosome.
- Men are more vulnerable to haemophilia than women. It is a rare disease where in about 1 in 10,000 people are born with it.
Q1) What are the types of haemophilia?
The main types of haemophilia include- Haemophilia A which happens because of the deficiency of clotting factor 8, Haemophilia B which happens because of the deficiency of clotting factor 9 and Haemophilia C, also known as Rosenthal syndrome occurs due to the deficiency of factor 11.
Source: Pfizer's haemophilia B gene therapy succeeds in late-stage study