Haemophilia and Prophylaxis: Causes, Symptoms and Treatment

Context: Prophylaxis is highlighted as the gold standard treatment for haemophilia.

What is Haemophilia A?

• A hereditary bleeding disorder in which blood does not clot properly.
• Caused by a deficiency of Factor VIII, an essential clotting protein.

Cause & Clotting Process

• Normal blood clotting involves a coagulation cascade with ~20 clotting factors.
• Missing or malfunctioning factors increase the risk of excessive bleeding.
• In Haemophilia A, the body produces insufficient Factor VIII.

Genetic Transmission

• Usually inherited through an altered gene from parents.
• Males with the altered gene show symptoms.
• Females are often carriers, may have mild or no symptoms, but can still experience bleeding issues.

Symptoms

• Main symptom: prolonged bleeding, often noticed after circumcision in infants.
• Bleeding tendency becomes more visible when the child starts crawling or walking.
• Mild cases may go unnoticed until injury or surgery occurs.
• Internal bleeding can happen anywhere in the body.
• Common signs include:
  • Joint bleeding (pain, swelling)
  • Blood in urine or stool
  • Easy bruising
  • Gastrointestinal or urinary tract bleeding
  • Nosebleeds
  • Prolonged bleeding after cuts, surgery, or dental procedures
  • Spontaneous bleeding without injury

Treatment

• Main approach: Factor VIII replacement therapy.
• Involves injecting concentrated Factor VIII into the bloodstream.
• Restores the missing protein to help blood clot normally.

Prophylaxis in Haemophilia

Definition

• Prophylaxis is the regular, preventive infusion of clotting factor concentrates to avoid bleeding episodes before they occur, rather than treating them after they happen (on-demand therapy).

Purpose

• Maintains clotting factor levels above the threshold needed to prevent spontaneous bleeding.
• Aims to protect joints, muscles, and organs from long-term damage.
• Enables patients to lead an active, near-normal lifestyle without constant fear of bleeds.

How It Works?

• Involves scheduled intravenous injections of Factor VIII (for Haemophilia A) or Factor IX (for Haemophilia B).
• Can also use newer non-factor therapies (e.g., subcutaneous injections) that rebalance clotting.
• Typically done 2–3 times per week for Haemophilia A, less often for Haemophilia B due to longer half-life.

Types of Prophylaxis

• Primary prophylaxis: Started before the second joint bleed and before age 3, to prevent joint damage from the beginning.
• Secondary prophylaxis: Started after a few bleeds but before chronic joint damage sets in.
• Tertiary prophylaxis: Started after joint disease is established, to prevent further damage and improve function.

Advantages over On-demand Therapy

• Prevents joint and muscle damage from recurrent bleeds.
• Reduces the number of spontaneous bleeds and hospitalisations.
• Improves mobility, independence, and participation in school, work, and social life.
• Maintains long-term joint health and delays or avoids disability.
• Reduces overall healthcare costs in the long run by avoiding complications.

Global vs. Indian Scenario

• In developed nations, ~90% of haemophilia patients are on prophylaxis, with near-normal life expectancy.
• In India, On-demand therapy is still most common due to low awareness, limited resources, and high costs. Some states have recently introduced prophylaxis for children.

Challenges in Implementation

• High cost of clotting factors or non-factor therapies.
• Need for regular venous access, which can be difficult in children.
• Requires patient and family training for home administration.
• Lack of widespread policy support and diagnostic coverage in low-resource settings.

Long-term Impact

• Significantly improves quality of life by reducing pain, disability, and anxiety.
• Encourages physical activity and normal growth in children.
• Minimises long-term complications like chronic arthropathy (joint disease).
• Moves haemophilia care towards the goal of “zero bleeds.”

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