Prelims:Science & Tech. (Diseases), Haemophilia A, Indian Scenario of Haemophilia, World Federation of Haemophilia (WFH)
Mains: General Studies-III Science and Technology- Developments and their Applications and Effects in Everyday Life.
Why in the News ?
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.
Source: IE
📌 FYI on Prelims
World Federation of Haemophilia (WFH)
- It is an international not-for-profit organization that was established in 1963.
- It is a global network of patient organizations in 140 countries and has official recognition from the World Health Organization.
- Its mission is to improve and sustain care for people with inherited bleeding disorders around the world.
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.
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.
Indian Scenario of Haemophilia
- According to the World Federation of Haemophilia’s Annual Global Survey 2017, there were over 1.96 lakh persons living with haemophilia across the world in 2017.
- In the country-wise data, India emerges with the highest count at nearly 19,000.
- It is estimated that 80% cases go unregistered, so that the actual count is close to 2 lakh.
UPSC CSE EXAMS Corner
Prelims: PYQ/FAQ
Q. With reference to Haemophilia, consider the following statements:
1.It is a medical condition, mostly inherited, in which the ability of blood to clot is severely reduced.
2.There is no proper treatment available for Haemophilia.
Which of the statements given above is/are correct?
A) 1 only
B) 2 only
C) Both 1 and 2
D) Neither 1 nor 2
Ans: a. 1 only
Explaination:
- Statement 1 is correct: Haemophilia is a medical condition, mostly inherited, in which the ability of blood to clot is severely reduced, so that even a minor injury can cause severe bleeding.
- The most common type of Haemophilia is called Haemophilia A. This means the person does not have enough clotting factor VIII (factor eight).
- Haemophilia B is less common. A person with Haemophilia B does not have enough factor IX (factor nine).
- Statement 2 is incorrect: The main treatment for Haemophilia is Replacement Therapy. Concentrates of clotting factor VIII (for Haemophilia A) or clotting factor IX (for Haemophilia B) are slowly dripped or injected into a vein. These infusions help replace the clotting factor that is missing or low.
