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Haemophilia

  • Carina Schey
  • Jun 13
  • 3 min read

Haemophilia is a rare, inherited bleeding disorder that impairs the body’s ability to form blood clots, leading to prolonged bleeding after injury, easy bruising, and an increased risk of internal bleeding, especially into joints and the brain. The two primary types—haemophilia A (factor VIII deficiency) and haemophilia B (factor IX deficiency)—share similar symptoms but differ in the specific clotting factor affected. Severity ranges from mild to severe, with the most serious cases experiencing frequent spontaneous bleeds and significant risk of long-term complications.

 

Advances in Treatment

Over the past decade, haemophilia care has evolved dramatically. Traditional intravenous factor replacement therapies have been complemented by genetically engineered and chemically modified concentrates, FVIIIa mimetics, rebalancing agents, and, most recently, gene therapies such as ROCTAVIAN (valoctocogene roxaparvovec-rvox) for haemophilia A and HEMGENIX (etranacogene dezaparvovec-drlb) and BEQVEZ (fidanacogene elaparvovec) (no longer available in Europe) for haemophilia B. These innovations have improved clinical outcomes, enabled less frequent dosing, and opened the door for subcutaneous administration, making treatment more accessible and tolerable for many patients.

 

Persistent Unmet Needs

Despite these advancements, significant unmet needs remain for people living with haemophilia:

  1. Breakthrough Bleeding and Joint Damage: Even with regular prophylactic therapy, more than one-third of patients still experience bleeding episodes, and joint damage remains a significant problem. Subclinical micro-bleeds can silently contribute to joint deterioration, leading to pain, reduced mobility, and diminished quality of life.

  2. Quality of Life and Psychosocial Impact: Haemophilia profoundly affects daily living. Many patients report avoiding physical activities, sports, and hobbies due to fear of bleeding, with over 80% expressing concern about breakthrough bleeds. Anxiety, nervousness, and social isolation are common, some adults are unable to work full-time because of their condition.

  3. Access and Disparities in Care: Accessibility to advanced therapies remains a global challenge. Two-thirds of the world’s haemophilia population lack access to adequate treatment, and even in high-income countries, not all patients can receive the latest therapies due to cost or availability. Specialized care centres and multidisciplinary teams—essential for optimal management—are not universally accessible, particularly in rural or underserved regions.

  4. Complexity of Management: Haemophilia management is complex, requiring lifelong, coordinated care involving haematologists, nurses, psychologists, physical therapists, and other specialists. The shortage of healthcare professionals trained in bleeding disorders further complicates care delivery, and transitions from pediatric to adult care can be especially challenging.

  5. Treatment Challenges: Patients may develop inhibitors—antibodies that neutralize clotting factor therapy—making treatment more difficult and expensive. The need for frequent injections, variability in individual response, and high costs of therapy remain significant barriers.

 

Looking to the Future

To address these unmet needs, the haemophilia community calls for:

  • Continued innovation in therapies, including longer-acting agents, non-factor treatments, and gene therapies that offer the potential for durable or even curative outcomes.

  • Greater investment in education and training for healthcare professionals to ensure comprehensive, multidisciplinary care.

  • Expanded access to treatment globally, with efforts to reduce disparities and ensure all patients can benefit from medical advances.

  • Enhanced psychosocial support and resources to address the quality of life, mental health, and social integration challenges faced by those living with haemophilia.

  • Patient-centered research to better understand the real-world impact of haemophilia and refine care pathways to meet individual needs.

 

Therefore, while remarkable progress has been made in haemophilia care, substantial gaps remain in bleeding control, joint health, quality of life, access, and comprehensive management. Addressing these unmet needs requires ongoing research, innovation, and a commitment to equitable, holistic care for all individuals living with haemophilia.

 

References:

 
 
 

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