Haemophilia A
29-02-2024
11:06 AM
1 min read
Overview:
Recently, the Union Science and Technology Minister told that India has conducted the first human clinical trial of gene therapy for ‘haemophilia A’ at Christian Medical College – Vellore.
About 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.
- Males are much more likely to have hemophilia than are females.
- 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.
What is Gene therapy?
- It is a technique that modifies a person’s genes to treat or cure disease.
- Gene therapies can work by several mechanisms:
- Replacing a disease-causing gene with a healthy copy of the gene
- Inactivating a disease-causing gene that is not functioning properly
- Introducing a new or modified gene into the body to help treat a disease
- Gene therapy products are being studied to treat diseases including cancer, genetic diseases, and infectious diseases.
Q1) What is the Y chromosome?
The Y chromosome is one of the two sex chromosomes in humans (the other is the X chromosome).The sex chromosomes form one of the 23 pairs of human chromosomes in each cell. The Y chromosome is very small. It likely contains 50 to 60 genes and represents 2% of a cell's total DNA.