India's First Haemophilia A Gene Therapy Trials UPSC

HAEMOPHILIA

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Picture Courtesy: https://fatimid.org/haemophilia/

Context: The Union Science and Technology Minister announce India's successful completion of the first human clinical trial for 'haemophilia A' gene therapy.

Key Highlights

Gene Therapy for Haemophilia A: India has successfully conducted the first human clinical trial for gene therapy targeting 'haemophilia A.' This condition is a genetic disorder that impairs the blood's ability to clot, leading to prolonged bleeding.
Technology Used in the Trial: The clinical trial involved the use of a cutting-edge technology called a lentiviral vector. This vector is utilized to introduce a specific gene (FVIII transgene) into the patient's own hematopoietic stem cells. These modified stem cells are then expected to express a crucial blood clotting factor (FVIII) from differentiated blood cells.
Human Interface in Artificial Intelligence: The minister highlighted that scientists are incorporating a human interface at different levels to enhance the effectiveness of artificial intelligence. This suggests a focus on ensuring that AI technologies are not only advanced but also aligned with human needs and interactions.

Hemophilia
Key Highlights	Description
What is it?	An inherited bleeding disorder where a person's blood doesn't clot properly due to a lack of clotting proteins (mainly Factor VIII or Factor IX).
Causes	Genetic: Hemophilia is an X-linked recessive disorder, meaning the genes for clotting factors are located on the X chromosome. Males have one X chromosome, so having one mutated gene results in the disease. Females, having two X chromosomes, are typically carriers but less likely to have symptoms unless both X chromosomes carry the mutation. Acquired (rare): In some cases, a person can develop Hemophilia later in life due to their immune system attacking clotting factors.
Types	Hemophilia A: The most common type, caused by a deficiency in Factor VIII. Hemophilia B: Less common, caused by a deficiency in Factor IX. Others: There are also rarer forms of Hemophilia involving deficiencies in other clotting factors.
Symptoms	Excessive bleeding: After injuries, surgery, or dental procedures. Spontaneous bleeding: Seemingly without cause, into joints (knees, elbows, ankles), muscles, or internal organs. Easy bruising: Large bruises form easily. Prolonged bleeding from minor cuts
Severity	Classified as mild, moderate, or severe, depending on the level of clotting factor present in the blood. Severity determines the frequency and intensity of bleeding episodes.
Complications	Joint damage: Repeated bleeding into joints can cause arthritis and chronic pain. Internal bleeding: Bleeding into the brain can be life-threatening. Infections: From blood transfusions (this risk is much lower now with safer blood products).
Diagnosis	Family History: Important for identifying risk. Blood tests: Measure clotting factor levels and activity to confirm diagnosis and determine type and severity.
Treatment	Clotting factor replacement: Infusion of concentrated Factor VIII or IX into the bloodstream to help the blood clot properly. Preventative treatment (prophylaxis): Regular factor infusions to prevent bleeding episodes. Medications: To help slow the breakdown of clots. Gene Therapy: Experimental but promising approach to provide a potential long-term cure.

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HAEMOPHILIA: https://www.iasgyan.in/daily-current-affairs/haemophilia#:~:text=Haemophilia%2C%20is%20a%20mostly%20inherited,inside%20joints%20or%20the%20brain.

PRACTICE QUESTION

Q. A hallmark symptom of Hemophilia is:

A) Frequent fevers

B) Bone fractures

C) Prolonged bleeding after injuries

D) Hair loss

Answer: C

Explanation: The primary complication in Hemophilia is the inability to form stable blood clots. This leads to extended bleeding even from minor cuts, bruises, and injuries. Internal bleeding in joints and muscles is also common.