Rare Diseases
More than 300 million people worldwide live with a rare disease, across more than 7,000 conditions. Many begin in childhood and can have lifelong consequences.
Patients and families often face delayed diagnosis, fragmented care, limited access to effective treatments, and significant financial and social challenges.
In the European Union, a disease is considered rare when it affects fewer than 5 in 10,000 people. An estimated 27–36 million people across the EU live with a rare disease. Many of these conditions have a genetic origin and can be disabling or life-threatening.
International recognition is growing. In May 2025, the World Health Assembly adopted its first resolution on rare diseases, calling for better diagnosis, affordable treatment and inclusion within universal health coverage. The World Health Organization (WHO) is preparing a ten-year global action plan for consideration in 2028. Rare Diseases International (RDI) brings together the global patient community to advocate for stronger recognition, participation and equitable access to care.
Within Europe, cooperation focuses on three essential areas:
- Access to specialist expertise: The 24 European Reference Networks (ERNs) connect specialist healthcare teams across borders. ERN-EuroBloodNet covers rare blood disorders, including thalassaemia and sickle cell disease. With patients’ consent, treating healthcare professionals can consult these networks for expert advice.
- National strategies and coordinated care: The EU supports national rare disease plans and clearer pathways to specialist services. The JARDIN joint action aims to integrate ERNs into national healthcare systems and improve access to their expertise.
- Research, data and treatments: The European Rare Diseases Research Alliance (ERDERA), launched in 2024, strengthens collaboration to improve diagnosis and treatment. EU initiatives also support patient registries and the development of medicines for rare diseases.
For people living with thalassaemia and other haemoglobin disorders, these efforts should translate into timely diagnosis, continuity of quality care and equitable access to appropriate treatments. TIF works to ensure that patients’ needs and experiences inform the policies, services and research that affect their lives.
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