Why in the News?
With haemophilia care evolving globally, the shift from reactive to preventive treatment has brought Prophylaxis Therapy to the forefront of modern clinical practice.
About Haemophilia:
- What is it: Rare genetic bleeding disorder due to deficiency of clotting factors, mainly Factor VIII (Haemophilia A).
- Effect: Causes prolonged bleeding, even from minor injuries; can lead to internal bleeds in joints, muscles, or brain.
- Key Symptoms: Excessive bleeding, painful joint swelling, risk of disability or brain hemorrhage.
- Prevalence: Estimated 1–1.5 lakh cases in India; only ~29,000 diagnosed (~20%).
- Underdiagnosis Causes: Low awareness, poor access to diagnostics, and socio-economic challenges.
- Impact if Untreated: Each untreated bleed may reduce lifespan by ~16 days; leads to pain, disability, missed school/work, and job loss.
Prophylaxis (Regular Replacement Therapy) and its Benefits:
- What It Is: Regular infusion of clotting factors or non-factor therapies to prevent bleeds.
- Global Standard: Replaces on-demand therapy; adopted as best practice in developed countries.
- Joint Protection: Prevents recurrent bleeds, avoids deformities and long-term disability.
- Quality of Life: Reduces pain and fear, enables normal schooling, work, and social life.
- Healthcare Savings: Cuts emergency visits, hospital stays, and long-term costs.
- Global Status: ~90% of haemophilia patients in developed countries are on prophylaxis.
- India’s Progress: On-demand remains common; some states offer prophylaxis for children under 10.
| [UPSC 2021] In the context of hereditary diseases, consider the following statements:
1.Passing on mitochondrial diseases from parent to child can be prevented by mitochondrial replacement therapy either before or after in vitro fertilization of the egg. 2.A child inherits mitochondrial diseases entirely from the mother and not from the father. Which of the statements given above is/are correct? Options: (a) 1 only (b) 2 only (c) Both 1 and 2* (d) Neither 1 nor 2 |
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