A Multi-Source Assessment of The Current Status of Prevention and Clinical Services for Haemoglobin Disorders in Europe

Background: Haemoglobin disorders in Europe are common in countries along the Mediterranean coast but are also increasing in historically low-prevalence areas of northern and western Europe as a result of increasing migration. Service needs, encompassing both prevention and clinical management, are complex and require further improvement based on patient outcomes, both in high-prevalence countries and, particularly, in countries where these disorders have been introduced more recently. Methods: We performed a multi-source study investigating prevention and clinical services focused on 28 countries across Europe. Results: Of the 53 countries within the WHO Regional Office for Europe, 11 have a ?-thalassaemia carrier frequency of >2% in the indigenous population and are therefore regarded as high-prevalence countries. Three are considered low-prevalence countries but have experienced a substantial and long-established impact of migrations from high-prevalence regions, while another 14 are considered low prevalence but show increasing trends due to more recent migrations. For the remaining 25 countries, information is largely unavailable. Epidemiological data remain incomplete in most countries because of the lack of reliable studies on carrier frequency and birth prevalence, as well as the limited availability of patient registries. Prevention programmes are best developed in high-prevalence countries and are based predominantly on premarital or preconception screening. Antenatal screening is practiced in countries where migration has resulted in increasing carrier rates, while in much of the rest of Europe there are no centrally supported programmes. Clinical management benefits from robust healthcare infrastructure in high-income countries, including adequate and safe blood transfusion services, access to medicines, and the availability of expert centres. Conclusions: Based on clinical outcomes, with the exception of a few high-prevalence countries or those with long-standing experience in managing haemoglobin disorders, many patients face challenges related to the rarity of these conditions and the limited expertise in the multidisciplinary care required to achieve long-term survival and good quality of life. Prevention programmes also remain insufficiently developed or implemented in most countries. Policy actions are therefore needed to address these gaps and improve both prevention and clinical care.