Why in News HEMOPHILIA explained for UPSC
  • 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