Medical innovation is advancing at a pace that often outstrips the infrastructure meant to deliver it. In Italy, a stark contradiction has emerged in the treatment of hemophilia and other congenital hemorrhagic diseases: while cutting-edge research is producing increasingly sophisticated therapies, the healthcare system is struggling to find enough trained professionals to administer them.
This critical shortage of specialized personnel threatens the continuity of care for hemophilia patients, as the network of specialized centers relies heavily on a dwindling number of experts. Many of these specialists are either nearing retirement or have already retired, continuing to provide care through volunteer work or consultancy to prevent a total collapse of service.
The issue was brought to the forefront during a discussion in Rome organized by FedEmo (the Federation of Hemophilia Associations) to mark the 22nd World Hemophilia Day, which takes place on April 17. This year’s observance is specifically dedicated to the training of healthcare personnel and the necessity of generational turnover within Italian Hemophilia Centers.
According to data from a 2025 report by the Istituto Superiore di Sanità, there are 9,043 people in Italy diagnosed with congenital hemorrhagic diseases (Mec). These conditions, caused by genetic defects in coagulation factors, require highly complex clinical management that cannot be easily substituted by general medical practice.
The Breakdown of the National Care Network
The current state of the Italian healthcare network for hemorrhagic diseases is characterized by significant fragility. According to the Italian Association of Hemophilia Centers (Aice), the national network consists of 47 centers. However, these centers are distributed unevenly across the country, creating geographic disparities in access to care.
The staffing crisis is acute; most of these centers are sustained by only one or two specialists. In many instances, the necessary assistance is being provided by physicians from entirely different medical disciplines who may lack the specific, advanced training required for these complex genetic disorders.
Cristina Cassone, president of FedEmo, has emphasized that without a structured plan for professional turnover, the stability of patient care is at risk. The reliance on retired specialists acting as volunteers highlights a systemic failure to integrate new medical professionals into the field of hematology and coagulation disorders.
Understanding Congenital Hemorrhagic Diseases (Mec)
Congenital hemorrhagic diseases are a group of genetic disorders that impair the body’s ability to form blood clots. Because these conditions are lifelong and can lead to severe internal bleeding or joint damage, they require constant monitoring and specialized intervention.
The distribution of these diseases among the 9,043 registered patients in Italy is as follows:
- Hemophilia A: 30% of patients
- Hemophilia B: 6.3% of patients
- von Willebrand disease: 29.3% of patients
- Other congenital coagulation defects: 34.4% of patients
Innovation vs. Implementation: The Training Gap
The paradox facing Italian patients is that the “tools” for recovery are better than ever, but the “hands” to use them are disappearing. Recent years have seen the introduction of non-replacement drugs, long-acting subcutaneous therapies, and the emergence of gene therapies. These innovations have significantly improved the quality of life and management of the pathology.
However, these advanced treatments are not “plug-and-play.” They require specialized diagnostic capabilities and a high level of professional expertise to ensure they are administered safely and effectively. The gap between the availability of these therapies and the availability of trained hematologists creates a bottleneck that prevents patients from receiving the full benefit of medical progress.
Expanding Diagnostics for Women
In an effort to improve early detection and care, FedEmo has announced a specific initiative targeting women. From March to June, women who wish to undergo screening will have the opportunity to visit hemophilia centers for blood tests to determine if they are affected by congenital hemorrhagic diseases. This initiative aims to identify asymptomatic carriers or patients who have gone undiagnosed, ensuring they can be integrated into the care system.
Key Takeaways: The Crisis in Hemophilia Care
- Staffing Shortage: Italian Hemophilia Centers are facing a critical lack of trained specialists, often relying on retired doctors.
- Network Fragility: The 47 existing centers are unevenly distributed and frequently understaffed.
- Technological Paradox: While gene therapies and long-acting drugs are available, there are fewer experts to administer them.
- Patient Population: Over 9,000 Italians live with Mec, with the largest groups suffering from Hemophilia A and other rare coagulation defects.
- Urgent Need: Generational turnover and specialized medical training are the primary priorities for the 22nd World Hemophilia Day.
The immediate focus for the Italian medical community remains the implementation of a sustainable recruitment and training pipeline. Without a strategic shift in how specialists are trained and retained, the promise of gene therapy and advanced pharmacology may remain out of reach for many.
The next major milestone for the community is the official observance of the XXII World Hemophilia Day on April 17, which will continue to push for systemic reforms in healthcare personnel training.
Do you have experience with rare disease care or thoughts on how healthcare systems can better manage generational turnover in specialized medicine? Share your perspectives in the comments below.
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