Rare anaemias are rare diseases with prevalence in Europe under 5 cases per 10.000 individuals. Major forms require red blood cell transfusions and iron chelating therapy as main therapeutic options. Preventive programs aiming to epidemiological control and a better diagnosis and clinical management of major rare anaemias are crucial for decreasing the affected birth rate and achieving an efficient balance between disease morbidity and patient’s life capacity. 1% of couples are at risk of having a newborn with a severe syndrome of haemoglobin, and over 330,000 children are born worldwide each year affected by one of these diseases, being the most common disorders sickle cell anemia and thalassemia syndromes. One of the most important aspects in the fight against rare diseases is the cooperation between countries, and here is where ENERCA is making a difference.
In its previous phases ENERCA worked on the promotion of best clinical and laboratory practices; The publication of ENERCA recommendations; The improving of continuous medical education; The empowerment of patients; The promotion of recognition of centres of expertise and elaboration of a white book with this purpose. Now, while implementing the e-Health tools for all the EU member states, the innovative e-ENERCA goals will allow improving the impact of former actions in the prevention of major rare anaemias effects on the quality patient’s life. e-ENERCA is not just a continuation of ENERCA 3, but a real step forward to the consolidation of the European Reference Network of Centres of Expertise on Rare Anaemias.
e-ENERCA will incorporate the innovative e-health information and communication technologies to create a pan-European interoperable e-health platform for teleexpertise/telediagnosis, electronic registry/epidemiological electronic health records and e-learning. As a result of the implementation of new e-health tools, e-ENERCA will create a new strategic collaboration environment for promoting the participation of European health professionals, researchers, medical education stakeholders and patients in the design and validation of health care services. This will be especially important for overcoming the current diagnostic difficulties for tackle rare anaemias, which cause remains unknown in more than 20% of the cases.