HAEMOPHILIA
- SCI & TECH
News:
India conducted 1st human
clinical trials for ‘haemophilia A’ gene therapy
What's
in the news?
●
India has conducted the first human
clinical trial of gene therapy for ‘haemophilia A’ at Christian Medical College
– Vellore, Union Science and Technology Minister Jitendra Singh.
Haemophilia
A:
●
It is a genetic disorder that affects the body’s ability to form blood clots.
●
It is a rare disorder in which the blood
doesn't clot in the typical way because it doesn't have enough blood-clotting
proteins.
●
It is a sex linked disorder. The gene for hemophilia is carried on the X chromosome.
Causes:
●
It is caused by a mutation or change, in
one of the genes, that provides instructions for making the clotting factor
proteins needed to form a blood clot. This type is caused by a lack or decrease
of clotting factor VIII.
Symptoms:
●
Signs and symptoms of hemophilia vary,
depending on the level of clotting factors.
Treatment:
●
It involves replacement therapy, which involves infusing clotting factor
concentrates into the bloodstream to help the blood clot.
●
Other treatments may include medications
to promote clotting or surgery to repair damage caused by bleeding.
Go
back to basics:
Haemophilia:
●
It is a medical condition, mostly
inherited, in which the ability of blood to clot is severely reduced.
Mutation:
●
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.
Types
of Haemophilia:
1.
Haemophilia A - deficiency of clotting factor 8.
2.
Haemophilia B - deficiency of clotting factor 9
3.
Haemophilia C - also known as Rosenthal syndrome occurs
due to the deficiency of factor 11.
Vulnerable
Population:
●
Men
are more vulnerable to haemophilia than women.
●
It is a rare disease where about 1 in 10,000 people are born with it.