Hemophilia A

Context

Indian scientists develop novel gene therapy treatment for haemophilia

About Hemophilia A

• A rare genetic disorder that impairs the body’s ability to form blood clots.
• Cause: Caused by mutations in genes responsible for producing clotting factor proteins, crucial for blood clotting.
• Nature: A sex-linked disorder, with the gene carried on the X chromosome.
• Why more prevalent in males:
  •  Males have only one X chromosome, so a defective gene on this chromosome causes hemophilia.
  • Females have two X chromosomes, so a defective gene on one X can be compensated by the other X, making them less likely to have the disorder.
• Symptoms: Vary based on clotting factor levels; includes spontaneous bleeding episodes.
• Treatment:
  • Replacement Therapy: Infusion of clotting factor concentrates to aid blood clotting.
  • Medications: To promote clotting.
  • Surgery: To repair bleeding-induced damage.

Gene Therapy

• A technique that modifies genetic material to treat or cure diseases.
  • Mechanisms:
    • Replacement of a disease-causing gene with a healthy version.
    • Inactivation of malfunctioning genes.
    • Introduction of new or modified genes to aid disease treatment.
• Diseases Treated:
  • Inherited genetic disorders: Hemophilia, sickle cell disease.
  • Acquired disorders: Leukemia.
• Applications: Used for treating genetic diseases, cancer, and infectious diseases.
• Significance: Offers the potential to provide long-term or permanent cures with a single treatment.
• Hemophilia A and Gene Therapy in India
  • Trial Success: Gene therapy for severe hemophilia A has shown promising results in India
  • One-time Solution: Unlike regular treatment requiring repeated clotting factor infusions, gene therapy aims to provide a permanent cure by teaching the body to produce its own clotting factor.
  • Gene Therapy Cost: Roctavian, the FDA-approved gene therapy, has shown to reduce bleeding episodes significantly.
    • Roctavian uses an adenovirus vector to deliver the therapeutic gene, which enables the liver to produce Factor VIII.
  • Indian Trial Innovation: The trial used lentivirus vectors and stem cells to introduce the clotting factor gene, offering a safer alternative to adenovirus vectors.
    • The approach could also make gene therapy safer for children and reduce the need for immunosuppressive therapy.

Source: TH

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Previous Year Question

Consider the following statements:
1. Genetic changes can be introduced in the cells that produce eggs or sperms of a prospective parent.
2. A person’s genome can be edited before birth at the early embryonic stage.
3. Human induced pluripotent stem cells can be injected into the embryo of a pig.
Which of the statements given above is/are correct?

UPSC Civil Services Exam – 2020 Prelims]

(a) 1 only
(b) 2 and 3 only
(c) 2 only
(d) 1, 2 and 3

Answer: (d)

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