HAEMOPHILIA

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Context

• S. drugmaker Pfizer Inc. said its experimental gene therapy for the treatment of haemophilia B, a rare inherited blood disorder, met its main goal in a late-stage study.

Haemophilia

• Haemophilia, is a mostly inherited genetic disorder that impairs the body's ability to make blood clots, a process needed to stop bleeding. This results in people bleeding for a longer time after an injury, easy bruising, and an increased risk of bleeding inside joints or the brain. Those with a mild case of the disease may have symptoms only after an accident or during surgery.

Causes

• Hemophilia 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 change or mutation can prevent the clotting protein from working properly or to be missing altogether. These genes are located on the X chromosome.

Ramifications

Hemophilia can result in:

• Bleeding within joints that can lead to chronic joint disease and pain.
• Bleeding in the head and sometimes in the brain which can cause long term problems, such as seizures and paralysis.
• Death can occur if the bleeding cannot be stopped or if it occurs in a vital organ such as the brain.

Types

There are several different types of hemophilia. The following two are the most common:

• Hemophilia A (Classic Hemophilia)
• This type is caused by a lack or decrease of clotting factor VIII.
• Hemophilia B (Christmas Disease)
• This type is caused by a lack or decrease of clotting factor IX.

Treatment

• There is no cure for hemophilia at this time, but there is medicine people can take. This medicine helps them stop bleeding so they can do most of the things everyone else does.
• The best way to treat hemophilia is to replace the missing blood clotting factor so that the blood can clot properly. This is done by infusing (administering through a vein) commercially prepared factor concentrates.

https://www.thehindu.com/sci-tech/health/pfizers-haemophilia-b-gene-therapy-succeeds-in-late-stage-study/article66317171.ece