Overview of Haemophilia in India
Haemophilia is an inherited, rare bleeding disorder caused by a deficiency in clotting factors, often Factor VIII in Haemophilia A. This condition leads to excessive bleeding even from minor injuries and can result in spontaneous internal bleeds, notably in joints and muscles, causing chronic pain and disability. In severe cases, bleeds can occur in the brain without trauma, posing life-threatening risks.
Current State of Haemophilia Diagnosis in India
- Estimated vs. Actual Diagnosed Cases:
- Estimated cases in India are between 1 and 1.5 lakh based on a prevalence of 1 in 10,000.
- Only about 29,000 patients have been diagnosed, indicating just 20% of estimated cases.
- Factors Contributing to Undiagnosis:
- Lack of awareness.
- Limited diagnostic facilities.
- Socioeconomic barriers.
Impact of Undiagnosed Haemophilia
- Untreated bleeds can reduce life expectancy by approximately 16 days.
- Leads to socio-economic challenges such as school absenteeism, unemployment, and loss of productivity.
Advancements in Haemophilia Treatment
Prophylaxis—A Preventive Approach
- Difference from On-Demand Therapy:
- Prophylaxis involves regular replacement therapy to prevent bleeds before they occur.
- On-demand therapy treats bleeds after they have already happened, often too late to prevent joint damage.
- Benefits of Prophylaxis:
- Prevents joint damage by maintaining continuous clotting factor levels.
- Improves quality of life by reducing bleeds and pain and allowing independence in daily activities.
- Decreases healthcare demands and overall treatment costs by reducing spontaneous bleeds requiring urgent care.
Global vs. Indian Context
- Approximately 90% of haemophilia patients in developed nations are on prophylaxis, leading to near-normal life expectancy.
- In India, on-demand therapy remains prevalent, though some states have initiated regular replacement for children under 10.
Future Directions
- Ensuring awareness and accessibility to prophylaxis is crucial for improving haemophilia care in India.
- Policy advocacy and public education are essential to address under-diagnosis and prevent disabilities.