Haemophilia in Spain

Area of Science:

• * Hematology
• * Epidemiology
• * Public Health

Background:

• * Haemophilia A (HA) and B (HB) are rare inherited bleeding disorders.
• * Comprehensive epidemiological data and healthcare network characterization are crucial for optimizing patient care.
• * Previous studies on haemophilia prevalence and complications in Spain are limited.

Purpose of the Study:

• * To determine the prevalence of HA and HB in Spain.
• * To characterize clinical and genetic features, treatment, and complications in haemophiliac patients.
• * To evaluate the healthcare network supporting haemophiliac patients in Spain.

Main Methods:

• * A cross-sectional, multi-centre study involving 2400 haemophiliac patients (2081 HA, 319 HB) in active follow-up in Spanish hospitals by December 2006.
• * Data collection included clinical and genetic characteristics, treatment, and complications.
• * Analysis of disease severity, genetic screening, treatment modalities (factor concentrates, prophylaxis), bleeding episodes, arthropathy, infections (HIV, HCV), and inhibitor development.

Main Results:

• * HA prevalence was 86.7%, HB 13.3%. Severe illness affected 32.3% of patients.
• * Genetic screening was performed in 32.6%. Coagulation factor concentrates were used by 60% in 2006.
• * Prophylaxis was received by 45.8% of severe patients; those on prophylaxis had fewer bleeding episodes (1.3 vs. 4).
• * Complications included arthropathy (30%), HIV (16.8%), HCV (34.8%), and inhibitors (10% in severe HA, 6.5% in severe HB).
• * Immune tolerance induction therapy was initiated in 34 patients.

Conclusions:

• * This study provides the first comprehensive epidemiological overview of haemophilia in Spain.
• * Findings highlight significant complications and varying treatment uptake, underscoring the need for evidence-based guidance.
• * Results enable comparisons with other countries and assessment of care quality, aiming for equitable improvement of haemophilia care in Spain.