Haemophilia A

Why in News?

India continues to face high under-diagnosis of haemophilia, with only 20% of estimated cases identified. The article highlights the shift in treatment from on-demand therapy to prophylaxis—a globally recognized gold standard—aimed at preventing bleeds and disability.

Description:

Haemophilia A:

• Type: Genetic/hereditary bleeding disorder
• Cause: Deficiency of clotting factor VIII
• Effect: Blood doesn’t clot properly, leading to excessive bleeding, both external and internal.
• Inheritance: X-linked recessive disorder
  • Affects mostly males
  • Females are typically carriers, may show mild symptoms

Causes and Biology:

• Part of the coagulation cascade, involving 20+ clotting factors
• Deficiency in Factor VIII leads to Haemophilia A
• Caused by an altered gene, inherited from parents

Symptoms:

• Prolonged bleeding, especially after injury or surgery
• Spontaneous internal bleeding, often into joints (hemarthrosis) causing pain and swelling
• Bleeding after circumcision (early sign in infants)
• Other signs:
  • Blood in urine or stool
  • Easy bruising
  • Frequent nosebleeds
  • Gastrointestinal and urinary tract bleeding
  • Bleeding gums
  • Joint stiffness, swelling, and pain

Treatment:

• Factor VIII replacement therapy
  • Intravenous injection of concentrated clotting factor VIII
• Prophylaxis:
  • Regular/preventive replacement to prevent bleeding episodes
  • Can also be administered subcutaneously with newer non-factor products
  • Regarded as gold standard treatment
• On-demand therapy:
  • Used after a bleed occurs – less effective in preventing joint damage

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