HEMOPHILIA

HEMOPHILIA

Why in News

• The World Health Organization has advanced a new resolution to improve care equity for haemophilia.
• India carries the second-largest global burden, with an estimated ~1.4 lakh cases.
• Highlights the need for better diagnosis, treatment access, and national registries.

What is Haemophilia?

• Haemophilia is a rare inherited bleeding disorder where blood fails to clot properly.
• Caused by deficiency of clotting factors, which are essential proteins for blood clotting.

Types

• Haemophilia A: Deficiency of Factor VIII (most common)
• Haemophilia B: Deficiency of Factor IX (also called Christmas Disease)

CAUSES & GENETIC PATTERN

• X-linked recessive disorder:
  • Mostly affects males
  • Females usually carriers
• Spontaneous mutations:
  • Around one-third cases occur without family history
• Root cause: absence or low levels of clotting proteins

SIGNS & SYMPTOMS

• Prolonged bleeding after injury or surgery
• Easy bruising
• Haemarthrosis (joint bleeding) causing pain and swelling
• Internal bleeding in severe cases (brain/organs)
• Chronic joint damage leading to disability

DIAGNOSIS

• Blood tests such as:
  • Complete Blood Count (CBC)
  • aPTT (Activated Partial Thromboplastin Time)
  • Clotting factor assays
• Classified into mild, moderate, severe based on factor levels

TREATMENT & MANAGEMENT

• Clotting factor replacement therapy
• Prophylaxis: Regular infusion to prevent bleeding episodes
• Modern therapies:
  • Non-factor drugs (e.g., emicizumab)
  • Gene therapy (long-term potential cure by enabling body to produce clotting factors)

SIGNIFICANCE

• Large undiagnosed population (~1 lakh) indicates a hidden public health burden
• Need for:
  • National registry systems
  • Early screening and diagnosis
  • Affordable treatment access
• Burden disproportionately affects economically weaker sections

Global Significance

• Focus on health equity and access to treatment
• Example of rare disease policy challenges
• key area in genetic and gene therapy research

CHALLENGES

• High cost of treatment (factor therapy)
• Limited awareness and diagnosis
• Inadequate health infrastructure in rural areas
• Lack of comprehensive data and registry

WAY FORWARD

• Expand screening and awareness programs
• Strengthen public healthcare infrastructure
• Promote local production of clotting factors
• Encourage research in gene therapy
• Integrate haemophilia care into universal health coverage frameworks

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