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Saatja: Thalassaemia International Federation - SE <thalassaemia- [email protected]> Saadetud: 25.08.2021 13:17 Adressaat: SM Info <[email protected]> Teema: Policy Recommendations for addressing the needs of thalassaemia patients Tähtsus: Kõrgeim Your Excellency, Dear Mr Kiik, Subject: Policy Recommendations for addressing the needs of thalassaemia patients The mission and vision of the Thalassaemia International Federation (TIF) throughout the years has remained unchanged; that is to secure equal access to quality health care for every patient with thalassaemia and other haemoglobin disorders through the prioritization of thalassaemia on health agendas and the development and implementation of control programmes on the national level for the treatment and prevention of thalassaemia in impacted countries. As such, TIF has taken the initiative to formulate a series Policy Recommendations, for consideration by national health authorities in the European region and relevant regional legislative bodies (e.g. European Parliament, European Commission etc). The document aims to provide an overview of the multiple factors that affect the lives of people with thalassaemia and sickle cell disease living in the European Union and highlight specific recommendations addressed to policymakers in order to address key challenges, unmet needs and policy gaps and ultimately improve the patients health and lives. These Recommendations have been articulated as a result of the Federations interactions with patients, parents and healthcare professionals in Europe and in the context of the activities of the multiannual programme entitled Thalassaemia In Action (THALIA). We are honoured and prviledged to share this important document with you, hoping that you will find it useful in your future healthcare policy planning and decision-making that will ultimately bring about changes that will improve the lives of patients. We remain at your disposal for any further information and/or clarification you may require, and if you deem appropriate a virtual meeting to discuss the impact and burden of thalassaemia in your country. Sincerely yours, Panos Englezos President Thalassaemia International FederationPO Box 28807, 2083 Strovolos, CyprusTel: +357 22 319 129Fax: +357 22 314 552 Website: Subscribe to our newsletter: About TIF Thalassaemia International Federation, a non-governmental, patient driven umbrella organisation, established in 1986, supports the rights of patients for access to quality health, social and other care through its work with over 200 national thalassaemia associations in 62 countries across the world. Founded by a small group of doctors and patients/parents who represented National Patient Associations, mainly from Cyprus, Greece, Italy, UK and USA i.e. countries where thalassaemia had been recognized early as a genetic, hereditary disorder with huge medical, public health, social and economic repercussions if left unaddressed in terms of both effective prevention and management. Our Mission: The prioritisation of thalassaemia on national health agendas and the development and implementation of effective disease – specific control (prevention and clinical management) programmes within national healthcare systems based on universal coverage Our Vision: To support the provision of equal access of every patient with thalassaemia to high quality health, social and other care in a truly patient-centred healthcare setting Our Values: Transparency, reliability, ethos, accountability, independence and patient-centredness Our Work: Education | Advocacy | Collaborations/ Networking | Research | Raising Awareness Our Partners:  World Health Organisation: In official relations since 1996  United Nations Economic and Social Council: In special consultative status with the since 2017  Council of Europe: Participatory status at the Conference of International Non-Governmental Organisations sicne 2019  European Commission: Official partners in the field of Health since 2018 Our Motto: Knowledge is our power; Unity is our strength. 2 TABLE OF CONTENTS INTRODUCTION ..................................................................................................................................... 4 Purpose of the Document ....................................................................................................................................................... 4 About Haemoglobin Disorders ............................................................................................................................................... 4 Haemoglobin Disorders in Europe and Migration ................................................................................................................ 5 SUMMARY OF RECOMMENDATIONS .................................................................................................. 7 STATE-OF-THE-ART REPORT & RECOMMENDATIONS .................................................................... 8 Executive Summary ................................................................................................................................................................. 8 Recommendations in order of priority ................................................................................................................................... 9 CONCLUSION ...................................................................................................................................... 20 KEY BIBLIOGRAPHY ........................................................................................................................... 21 3  Introduction Purpose of the Document This document has been drafted in the context of the activities of the multiannual programme of the Thalassaemia International Federation (2018-2021), entitled “Thalassaemia In Action” (THALIA). Its aim is to provide an overview of the multiple factors that impact the lives of people with Thalassemia and Sickle Cell Disease living in the European Union and highlight specific recommendations addressed to policymakers in order to address key challenges, unmet needs and policy gaps and ultimately improve the patients’ health and lives. About Haemoglobin Disorders Epidemiology According to the World Health Organisation (WHO), around 7% of the global population carries an abnormal haemoglobin gene, while 300,000-500,000 children are born annually with clinically significant haemoglobin disorders. About 80% of children with these disorders are born in developing countries, 30% of which are affected by thalassaemia syndromes1. Sadly, a large percentage of affected individuals receive suboptimal or no treatment, all leading to high rates of morbidity and mortality particularly in low and middle income countries. Indeed, in recent years, haemoglobin disorders have been recognized as a growing public health problem in more than 70 countries of the world, where 89% of the annual affected births occur, accounting for 25% of all birth defects and thus constituting one of the top 5 more common birth defects, in accordance to the WHO (2013). Even though these numbers do reflect to a large extent the huge burden imposed by haemoglobin disorders at the national, regional and international levels, the reality and true picture is anticipated to be even more alarming as these numbers are grossly underestimated due to the absence of national, regional and international registries. Haemoglobin disorders are indigenous and most frequently found in malaria endemic or previously endemic regions including South East Asia, the Middle East, Mediterranean countries, and Northern and Central Africa. However, as a result of the mass migration of populations through the years from high prevalence areas, haemoglobin disorders are today occurring widely across the world. Haemoglobin disorders contribute significantly to the global and national toll of birth defects and disease burden and are associated with high mortality, morbidity and disability rates, the accurate extent of which can only be precisely assessed when effective, well-designed national registries are adopted, and well-coordinated national control programmes are in place. 1 Management of haemoglobin disorders: report of joint WHO-TIF Meeting, Cyprus, November 2007. http://www.who.int/genomics/WHO- TIF_genetics_final.pdf 4 Haemoglobin disorders today, in the absence in the majority of “affected” countries of national prevention and clinical management programmes are associated with huge and multiple public health, social and economic repercussions. Sadly, this occurs mostly in the developing world, where >70% of the patients are born and live. The introduction and implementation of such programmes thus is essential and the work of patients’/ parents’ non-governmental organisations (NGOs), such as the Thalassaemia International Federation (TIF), is of paramount importance in supporting and complementing the work of governments and other official national, regional and international health-related bodies and organisations to achieve this. About Thalassaemia The thalassemia syndromes are inherited blood disorders that affect the production of the normal adult haemoglobin component of red blood cells. Beta thalassemia is the most frequent and severe form of the disease, leading to the excessive destruction of red blood cells and thus severe chronic haemolytic anaemia. Affected patients require lifelong regular blood transfusions from early childhood, combined with iron chelation therapy to prevent complications due to iron overload, such as cardiac morbidity, liver disease, cancer and endocrine dysfunction. To effectively manage the complications of the disease, consequent to disease pathology and treatment, the provision of multidisciplinary care is mandatory. A holistic approach to care also includes social participation and protection that lead to increased quality of life. About Sickle Cell Disease The Sickle Cell Disease affects the structure of the haemoglobin component of red blood cells, leading to the blocking of the blood flow, pain and organ damage (“Sickle Cell Crisis”). Affected patients may require blood transfusion and iron chelation treatment and are then monitored by the same teams of healthcare professionals at the same treatment centres as thalassaemia patients. The disease requires early detection, lifelong health monitoring to prevent / reduce the number of life- threatening Sickle Cell Crises and infections (which may result in death). Haemoglobin Disorders in Europe and Migration Historically, haemoglobin disorders (thalassaemia and sickle cell disease being the most common2) were introduced in the indigenous population of every country globally through population movements from countries with a high prevalence of haemoglobin disorders (e.g. Italy, Greece, Cyprus) to countries with a low prevalence (e.g. UK, France, Germany and North America). The recent European migration flows of different causality, voluntary or forced, have thus changed the European landscape in the area of haemoglobin disorders3, leading to a steady increase of carriers and patients in all countries of the European Union4, including formerly low prevalence countries such 2 Modell, Bernadette & Darlison, Matthew. (2008). Global epidemiology of haemoglobin disorders and derived service indicators. Bulletin of the World Health Organization. 86. 480-7. 10.2471/BLT.06.036673. 3 Aguilar-Martinez P, Angastiniots M, Eleftheriou A, Gulbis B, Manu Pereira MM, Petrova-Benedict r, Vives- Corrons JL. Haemoglobinopathies in Europe: health & migration policy perspectives. Orphanet j Rare Dis. 2014, 9:97. 4 Michalis Angastiniotis, Joan-Lluis Vives Corrons, Elpidoforos S. Soteriades, and Androulla Eleftheriou, “The Impact of Migrations on the Health Services for Rare Diseases in Europe: The Example of Haemoglobin Disorders,” The Scientific World Journal, vol. 2013, Article ID 727905, 10 pages, 2013. https://doi.org/10.1155/2013/727905. 5 as Scandinavian countries5 (v. Denmark, Sweden), and Central European countries (v. Austria). EU countries where thalassaemia has traditionally been endemic (Cyprus, Greece, Italy), now host a large population of refugees and asylum seekers coming from countries with a high prevalence of haemoglobin disorders (mainly from the Middle East and Asia). This phenomenon adds extra burden to the healthcare systems of these border countries that struggle to control the migration influx. The following table presents the estimated number of migrants/carriers of haemoglobin disorders in four (4) EU countries, mostly affected by migration flows: Country Total Main Immigrant Population Estimated number of Carriers of sickle cell Immigrant region of from high prevalence carriers of beta disease Population origin countries thalassaemia (HbS +HbC) (MPI 2019) (beta + HbE) France 8,335,000 Sub- 5,253,000 63% 167,466 3.19% 241,885 4.6% Saharan Africa Germany 13,132,000 Middle-East 6,699,000 51% 196,706 2.94% 54,737 0.82% & Asia Sweden 2,005,000 Middle-East 887,000 44.2% 35,434 4% 10,928 1.23% & Asia Austria 1,780,000 Middle-East 526,000 29.55% 14,146 2.7%% 6,602 1.25% & Asia The following map depicts current migration flows and how these have changed the epidemiological profile of European countries: In the following pages we will address the fundamental issues concerning haemoglobin disorders in the European Union. Although the situation among states is remarkably diverse and depends on several external and internal factors, including the historic prevalence of the disease, there are some recurring concerns that are of interest for the entirety of the Union. 5 An increase in the number of Hb patients has been observed in Denmark, Norway, Finland and Sweden. See E. Theodorsson, H. Birgens & T. A. Hagve (2007) Haemoglobinopathies and glucose‐6‐phosphate dehydrogenase deficiency in a Scandinavian perspective, Scandinavian Journal of Clinical and Laboratory Investigation, 67:1, 3-10, DOI: 10.1080/00365510601046359. More recent findings: Hemminki K, Li X, Försti A, Sundquist J, Sundquist K. Thalassemia and sickle cell anemia in Swedish immigrants: Genetic diseases have become global. SAGE Open Med. 2015; 3:2050312115613097. Published 2015 Nov 23. doi:10.1177/2050312115613097. 6  Summary of Recommendations Taking into account the current situation concerning the haemoglobin disorders, as expressed in the following pages, the existing academic resources and the objectives of the EU4Health Programme 2021- 20276, Member States of the European Union, with the collaboration of the Commission, should implement the following recommendations, presented in order of priority:  Systematic data collection at national level through the Disease- development of disease-specific registries will facilitate Specific the work of policymakers, researchers and healthcare Registries professionals.  Intensive awareness-raising efforts addressed to the Awareness general public and migrant populations will lead to a better 1st Priority Raising understanding of needs and a more responsive health and social care service and stronger community cohesion.  Exchange of knowledge and best practices, in the areas of prevention, management and multidisciplinary care, Sharing of between countries that have successfully addressed the best control, prevention and clinical management challenges of practices haemoglobin disorders and countries that now need to fill practical and policy gaps for the extremely vulnerable group of migrant patients.  National disease-specific plans for the prevention, early 2nd Priority diagnosis and management of haemoglobinopathies will National further confine the number of new affected births amongst Plans both the indigenous and the migrant populations and improve the efficiency of health systems, yielding better health outcomes for patients.  Supporting national patient associations and patient Social Care support groups will empower patients to address social 3rd Priority inequities and provide peer-to-peer support.  Recognition of the right of everyone to the enjoyment of the Human highest attainable standard of physical and mental Rights health will not leave any patient with thalassaemia or other disease of the haemoglobin behind. 6 Reapeling Regulation (EU) No 282/2014 (“EU4Health Programme”) 7  State-of-the-art Report & Recommendations Executive Summary The changing epidemiology of haemoglobinopathies is due to past and recent migration as they extensively occur across the globe. However, in Europe, thalassaemia is only endemic in southern countries, particularly Cyprus, Italy and Greece. Recent migration fluxes originating from areas where Sickle Cell Disease and Thalassaemia are endemic, namely Africa, South East Asia and the Middle East, are challenging the EU healthcare systems not acquainted with these pathologies. Knowledge on the specificities of haemoglobin disorders in most EU countries thus remains rather confined. Registries of patients are a great tool to monitor the prevalence of these disorders and implement national measures accordingly. In addition to this, the collection of reliable data is necessary to further research and develop proper healthcare plans and guidelines. Nonetheless, only a limited number of countries have comprehensive national registries. Prevention, screening and diagnosis of haemoglobin disorders is well established and managed in countries where the diseases are traditionally endemic or in those with a long history of receiving migrants (e.g., France). Nonetheless, data shows that migrant population groups in Central and Northern Europe are underdiagnosed and their particular care needs are not sufficiently recognised and integrated into national health systems. The clinical management of haemoglobinopathies requires, amongst other therapeutical interventions, constant monitoring, specialised diagnostic procedures, blood transfusions, and chelating agents. Healthcare in the EU is, unarguably, of high quality. Nonetheless, given the rarity of these disorders in Central and Northern Europe, the availability of specialised care is highly heterogeneous. Above all, patients living in Central and Northern European stress the lack of adequate multidisciplinary care and of local reference centres able to guarantee appropriate treatment and care. In this context, multidisciplinary care represents a practical necessity and a tool for proper coordination among different healthcare specialists and patients. Scientific progress in the past decades has dramatically improved patients’ quality of living, significantly increasing their life-expectancy. However, access to medicines is highly variable and depends on the preparedness of countries, the distance of the patients’ place of residence from specialised centres and their economic possibilities. Novel therapies are a promising pharmaceutical advance and represent a great hope in the quest for the final cure, however, the cost of these therapies is extremely high. Nowadays, despite the existence of solid health infrastructures, haemoglobin disorders are not considered a health priority and patients lack social care, often feeling isolated. Most European countries have not yet established disease-specific programmes and have insufficiently focused on reducing health inequalities among patients with haemoglobin disorders across the EU, leading to further marginalisation of those affected. 8 Patients affected by haemoglobin disorders are prone to a variety of complications deriving from their condition, amongst which, the mental pressure that chronic diseases entail is the most underestimated. Mental Health is rarely accounted for in national disease-specific plans and constitutes a challenge in most Member States. Finally, low knowledge and inadequate management of these diseases heavily compromise patients' enjoyment of human rights. Social and political rights, such as the right to be free from discrimination and the right to a standard of living adequate for the health and well-being are at stake. Recommendations in order of priority 1st Priority Disease-  Systematic data collection at national level through the development of disease- Specific specific registries will facilitate the work of policymakers, researchers and Registries healthcare professionals. Registries7 of patients are an excellent tool to assess the prevalence of haemoglobin disorders in the population, collect data for further research, and develop appropriate health plans and guidelines. Evidence-based policies are key for economies of scale, but in the case of thalassaemia and other haemoglobinopathies, there is still poor data on the precise prevalence, overall burden, and trends of the diseases, due to a lack of comprehensive data collection and analysis systems in the different Member Countries. The importance of National and European disease-specific registries has been emphasized by the European Council8 and has been endorsed by the European Commission that has recently launched an EU-wide effort for the creation of a European Platform on Rare Diseases Registration. Disease-specific registries in EU countries, where these exist, are kept on a mandatory or voluntary basis at either local or national level. National registries for haemoglobinopathies exist in Cyprus9, France10, Germany11, Greece12, Spain13 and Italy14. These registries are used as service planning tools, clearly indicating what the requirements of the healthcare system are and what policy measures need to be taken for the control of affected births. The French National Thalassaemia Registry constitutes a best- practice example in Europe, demonstrating the increasing need for policy measures, as the number of patients has risen from 287 in 2008 to 667 in 2019. Other registries or patient health records are usually kept by physicians and are not coordinated at national level. 7 All information regarding national registries is retrieved from orpha.net. (Consulted by the authors on the 8th December 2020) 8 Council Recommendation on an action in the field of rare diseases (2009/C 151/02). http://eur-lex.europa.eu/LexUriServ/LexUriServ.do?uri=OJ:C:2009:151:0007:0010:EN:PDF 9 Telfer P, Kountouris P, Christou S, et al. Changing causes of mortality in TDT during the era of oral chelation therapy from 2000 to 2018. HemaSphere. 2019;3(Suppl):346‐347. 10 https://epidemiologie-france.aviesan.fr/en/epidemiology/records/registre-des-patients-thalassemiques-en-france-registre-qualifie 11 Kunz, JB, Lobitz, S, Grosse, R, et al. Sickle cell disease in Germany: Results from a national registry. Pediatr Blood Cancer. 2020; 67:e28130. https://doi.org/10.1002/pbc.28130 12 Voskaridou E, et al. National registry of hemoglobinopathies in Greece: updated demographics, current trends in affected births, and causes of mortality. Ann Hematol. 2019 Jan;98(1):55-66. doi: 10.1007/s00277-018-3493-4. Epub 2018 Sep 8. PMID: 30196444. 13 Bardón Cancho EJ, et al. Update of the Spanish registry of haemoglobinopathies in children and adults. Med Clin (Barc). 2020 Aug 14;155(3):95-103. English, Spanish. doi: 10.1016/j.medcli.2019.10.011. Epub 2020 Feb 26. PMID: 32113697. 14 Longo F, et al. Changing patterns of thalassaemia in Italy: a WebThal perspective. Blood Transfus. 2020 Nov 3. doi: 10.2450/2020.0143-20. Epub ahead of print. PMID: 33196416. 9 The lack of national registries makes it particularly challenging for policymakers and health professionals to assess the real prevalence of the disease and design targeted healthcare policies. In addition to this, a disease-specific database allows more thorough research and provides essential information for the development of therapies, particularly when associated with the patients’ medical records, such information is currently deficient and/or limited in most of the EU Countries. Therefore: Given the alarming increase of the number of migrants and refugees that have arrived and currently live in Europe, originating from countries with a very high prevalence of thalassaemia and Sickle Cell Disease; Taking into account the benefits that registries entail; Considering the emphasis put on data collection in the EU4Health Programme 2021-2027; We invite the European Commission to encourage the implementation of systematic disease- specific data collection at national level that will feed into the work of policymakers at national and European level, researchers and healthcare professionals.  Intensive awareness-raising efforts addressed to the general public and migrant Awareness populations will lead to a better understanding of needs and a more responsive Raising health and social care service and stronger community cohesion. Although Haemoglobinopathies are classified as “rare diseases” in Europe15 and worldwide, the World Health Organization (WHO) has recognised that, in the absence of effective prevention programmes, they represent for some time now a growing public health problem 16. Nonetheless, initiatives at an EU level remain general for rare diseases, with no policy strategies in place that specifically address haemoglobinopathies or increasing population diversity. Knowledge on the very existence of these diseases amongst policymakers, healthcare professionals and the general public remains confined, leading to negative repercussions on health systems, as explained below. The uneven level of health care services across EU countries is an unmet challenge for the European Union Member States17, that is particularly true when it comes to the prevention, treatment and management of haemoglobinopathies. Effective management requires many resources, which the health services of each country are called upon to provide, if patient survival and wellbeing are to be safeguarded. In service development, the following services must be provided and coordinated: blood adequacy and safety which involves the blood transfusion services, essential drugs, technology (e.g. MRI to assess iron overload, molecular laboratories), day care units for blood transfusions and outpatient clinics, multidisciplinary care and psychosocial support. While these services are available in all EU Member States, they are not always coordinated to be accessible to affected patients. 15 International Statistical Classification of Diseases and Related Health Problems 10th Revision (ICD-10), World Health Organization, 2010. 16 Thalassaemia and other haemoglobinopathies, Report by the Secretariat EB118/5, 11 May 2006. 17 European Commission (2017), State of Health in the EU: Companion Report 2017, Luxembourg: Publications Office of the European Union, p. 36. 10 In those countries with higher prevalence, national or regional control policies and carrier screening programmes exist, that is the case for Greece18, Italy19, Cyprus20, France and the United Kingdom. Several limited screening policies and clinical management protocols have also been implemented in Belgium21, Denmark22 and the Netherlands23. Nonetheless, the heterogeneous distribution of affected carriers and patients often leads to defining the disease as a regional or ethnic problem, which is not the case, as haemoglobin disorders are now present in all EU countries. The fact that these disorders have not been recognised yet as emerging public health problems is highly detrimental for patients’ optimal care. Moreover, patients report a gap between the timely supply of, and demand for, safe blood that leads to constant agony regarding their access to life-saving blood transfusion therapy. Action is thus required to address shortfalls and imbalances in national blood supplies within the health systems framework. Such action needs to be in line with the revised EU blood and tissues and cells legislation that is expected to be adopted and implemented in the coming months. In light of the above, haemoglobinopathies remain a secondary priority for policy action and, in countries where actions do exist, these are fragmented. Moreover, there is no particular reference or focus within Rare Disease strategies or migrant health initiatives on haemoglobin disorders. EU countries hosting the highest number of refugees and migrants report that haemoglobin disorders are becoming more and more common24, calling for disease-specific medical education and training, EU- wide screening policies25 and the translation of related material and community education programmes26. These concerns are mainly due to the considerable disease burden of haemoglobinopathies27 and to the rise of novel therapies, their increased cost and subsequent economic burden for national health systems. Indeed, the need for targeted policy measures has become urgent, as the number of births is expected to increase across all EU countries in the coming years28. Therefore: 18 Loukopoulos D. Current status of thalassaemia and the sickle cell syndromes in Greece. Semin Hematol 1996;33:76–86. 19 Cao A, Furbetta M, Galanello R, Melis MA, Angius A, Ximenes A, et al. Prevention of homozygous bthalassaemia by carrier screening and prenatal diagnosis in Sardinia. Am J Human Genet 1981;33:592–60; Maggio A, Caronia F, Orlandi F. Prenatal diagnosis of haemoglobinopathies in Sicily. Lancet. 20 Angastiniotis MA, Hadjiminas MG. Prevention of thalassaemia in Cyprus. Lancet 1981;1:369–70. 21 Gulbis B, Ferster A, Cotton F, Lebouchard MP, Cochaux P, Vertongen F. Neonatal haemoglobinopathy screening: review of a 10-year programme in Brussels. J Med Screen. In press. 22 Modell, B., Darlison, M., Birgens, H., Cario, H., Faustino, P., Giordano, P. C., Gulbis, B., Hopmeier, P., Lena-Russo, D., Romao, L. and Theodorsson, E.(2007)'Epidemiology of haemoglobin disorders in Europe: an overview', Scandinavian Journal of Clinical and Laboratory Investigation,67:1,39 — 70 p. 40 23 Giordano PC, Plancke A, Van Meir CA, Janssen CAH, Kok PJMJ, Van Rooijen-Nijdam IH, et al. Carrier diagnostics and prevention of hemoglobinopathies in early pregnancy in The Netherlands: a pilot study. Prenatal Diagnosis. In press 24 For Germany, see Zur, B. Internist (2016) 57: 444. https://doi.org/10.1007/s00108-016-0030-1. For France, see Hamouni, Eglantine, Armari, Corinne, Dupuis, Clémentine, et al. Major Issues of Care in Thalassemia Major Children Refugees. Journal of Pediatric Hematology/Oncology: August 31, 2018 25 Shook LM, Ware RE. Sickle cell screening in Europe: the time has come. Br J Haematol. 2018 Nov;183(4):534-535. doi: 10.1111/bjh.15596. Epub 2018 Nov 14. Also: Lobitz S., Telfer P. et al. Newborn screening for sickle cell disease in Europe: recommendations from a Pan-European Consensus Conference. Br J Haematol. 2018 Nov;183(4):648-660. doi: 10.1111/bjh.15600. Epub 2018 Oct 18. More recent findings by Daniel, Y.; Elion, J.; Allaf, B.; Badens, C.; Bouva, M.J.; Brincat, I.; Cela, E.; Coppinger, C.; de Montalembert, M.; Gulbis, B.; Henthorn, J.; Ketelslegers, O.; McMahon, C.; Streetly, A.; Colombatti, R.; Lobitz, S. Newborn Screening for Sickle Cell Disease in Europe. Int. J. Neonatal Screen. 2019, 5, 15. See also: James, J.; Dormandy, E. Improving Screening Programmes for Sickle Cell Disorders and Other Haemoglobinopathies in Europe: The Role of Patient Organisations. Int. J. Neonatal Screen. 2019, 5, 12. 26 Stanley L Schrier, Emanuele Angelucci. Public health issues in the thalassemic syndromes. Published in April 2019 at https://www.uptodate.com/contents/public-health-issues-in-the-thalassemic-syndromes 27 Based on the estimations of Emanuele Angelucci, Ali Antmen, Stefano Losi, Nigel Burrows, Chris Bartiromo, X. Henry Hu. Direct Medical Care Costs Associated with β-Thalassemia Care in Italy. Blood Dec 2017, 130 (Suppl 1) 3368, the Italian health national authorities spend annually at least 87,750,000 EUR for the basic treatment of 6,500 transfusion-dependent thalassaemia patients. 28 On 1 January 2018, the median age of the national population in the EU-28 was 44 years, while the median age of non-nationals living in the EU was 36 years. This indicates that more births are expected from non-EU national in the coming years. See: Eurostat on migration and migrant population statistics (2017) at https://ec.europa.eu/eurostat/statistics- explained/index.php/Migration_and_migrant_population_statistics#Migration_flows:_Immigration_to_the_EU_from_non- member_countries_was_2.4_million_in_2017 (Last visited on 09 June 2019). 11 Considering the limited knowledge of competent authorities on the impact of these diseases on national health systems, national budgets, policies and patients themselves; Recognising that voluntary non-remunerated blood donors are the foundation of a safe, sustainable blood supply; Taking into account the European Union’s vision for a healthier Europe, as expressed in the EU4Health Programme 2021-2027; We invite the European Commission to stress the need for intensive awareness-raising efforts addressed to the general public and migrant populations that will lead to a better understanding of needs and a more responsive health and social care service and stronger community cohesion.  Exchange of knowledge and best practices, in the areas of prevention, Sharing of management and multidisciplinary care, between countries that have successfully best addressed the control, prevention and clinical management challenges of practices haemoglobin disorders and countries that now need to fill practical and policy gaps for the extremely vulnerable group of migrant patients. Haemoglobin disorders occur widely across the world with the highest indigenous prevalence in the Middle East and Asia. In Europe, these are prevalent and indigenous in the Mediterranean coastal areas, particularly Italy, Greece, and Cyprus. During the past 50 years, migration from endemic areas has progressively introduced haemoglobin disorders in Northern and Western Europe, especially Sickle Cell Disease. This increasing trend is also due to the average young age of migrants and the high birth rates in risk groups, in comparison with the local population.29 As reported by TIF records, there are over 53,000 patients with Thalassaemia and many more with Sickle Cell Disease living in Europe, and according to calculations based on the TIF database of carrier rates in each country (including estimates of the migrant populations) Europe can expect around 1,800 new affected births per year. This is certain to be a gross underestimate because of the lack of registries, but as migration flows continue to rise also numbers of carriers and patients increase30 emphasising the need for effective tailored EU policies. Although Haemoglobinopathies are classified as “rare diseases” in Europe31, the World Health Organization (WHO) has recognised that they are a growing health problem32, nonetheless, initiatives at the EU level remain general for rare diseases, with no policy strategies in place that specifically address haemoglobinopathies or the increasing population diversity. The uneven level of health care services across EU countries is an unmet challenge for the European Union Member States33, which is particularly true when it comes to the prevention, treatment, and management of haemoglobinopathies. 29 Modell, B., Darlison, M., Birgens, H., Cario, H., Faustino, P., Giordano, P. C., Gulbis, B., Hopmeier, P., Lena-Russo,D., Romao, L. and Theodorsson, E. (2007), Epidemiology of haemoglobin disorders in Europe: an overview, in Scandinavian Journal of Clinical and Laboratory Investigation, 67:1, 39 – 70, p. 40. 30Angastiniotis M, Vives Corrons JL, Soteriades ES, Eleftheriou A. The Science World J, 2013; Aguilar-Martinez P, Angastiniotis M, Eleftheriou A, Gulbis B, Manu Pereira MM, Petrova-Benedict r, Vives- Corrons JL. Haemoglobinopathies in Europe: health & migration policy perspectives. Orphanet j Rare Dis. 2014, 9:97. 31 International Statistical Classification of Diseases and Related Health Problems 10th Revision (ICD-10), World Health Organization, 2010. 32 Thalassaemia and other haemoglobinopathies, Report by the Secretariat EB118/5, 11 May 2006. 33 European Commission (2017), State of Health in the EU: Companion Report 2017, Luxembourg: Publications Office of the European Union, p. 36. 12 In the South, particularly in those countries with higher prevalence, national or regional policies and carrier screening programmes exist, that is the case for Greece34, Italy35 and Cyprus36. Several limited screening policies have also been implemented in Belgium37, Denmark38, the Netherlands39, and France.40 While a lack of awareness among policymakers, health professionals, and affected strands of the population represents one of the main problems in Northern and Western Europe. The heterogeneous distribution of affected carriers and patients often leads to defining these diseases as a regional or ethnic issue. The fact that the disorders are not recognised as health problems is highly detrimental to patients’ optimal care. Moreover, there is little or no reference to haemoglobin disorders neither in Rare Disease Strategies, nor in migrant health initiatives. As haemoglobinopathies are preventable, detectable and treatable, it is essential to make “the problem more visible to governments and international health agencies that are involved in the health care”41. Considering the objectives of the EU4Health Programme 2021-202742, it is even more important to ease the exchange of knowledge and best practices between countries that have implemented successful prevention and management programmes (i.e., Italy, Greece and Cyprus) and countries that now need to fill in practice and policy gaps for the extremely vulnerable group of migrant patients, given that in the following years the number of births will inevitably increase across all EU countries. Therefore: Considering the issues mentioned further above; We invite the European Commission to further promote and facilitate the exchange of knowledge and good practice between countries that have successfully implemented prevention and screening policies for haemoglobin disorders and countries that now need to fill practical and policy gaps for the extremely vulnerable group of migrant patients. 2nd Priority  National disease-specific plans for the prevention, early diagnosis and management of haemoglobinopathies will further confine the number of new National affected births amongst both the indigenous and the migrant populations and Plans improve the efficiency of health systems, yielding better health outcomes for patients. 34 Loukopoulos D., Current status of thalassaemia and the sickle cell syndromes in Greece, Semin Hematol 1996;33:76–86. 35 Cao A, Furbetta M, Galanello R, Melis MA, Angius A, Ximenes A, et al. Prevention of homozygous bthalassaemia by carrier screening and prenatal diagnosis in Sardinia, Am J Human Genet 1981;33:592–60; Maggio A, Caronia F, Orlandi F., Prenatal diagnosis of haemoglobinopathies in Sicily. Lancet. 36 Angastiniotis MA, Hadjiminas MG., Prevention of thalassaemia in Cyprus. Lancet 1981;1:369–70. 37 Gulbis B, Ferster A, Cotton F, Lebouchard MP, Cochaux P, Vertongen F., Neonatal haemoglobinopathy screening: review of a 10-year programme in Brusselsm, J Med Screen. In press. 38 Modell, B., Darlison, M., Birgens, H., Cario, H., Faustino, P., Giordano, P. C., Gulbis, B., Hopmeier, P., Lena-Russo, D., Romao, L. and Theodorsson, E. (2007)' Epidemiology of haemoglobin disorders in Europe: an overview', Scandinavian Journal of Clinical and Laboratory Investigation,67:1,39 — 70 p. 40 39 Giordano PC, Plancke A, Van Meir CA, Janssen CAH, Kok PJMJ, Van Rooijen-Nijdam IH, et al. Carrier diagnostics and prevention of hemoglobinopathies in early pregnancy in The Netherlands: a pilot study. Prenatal Diagnosis. In press 40 Ibidem. 41 Weatherall DJ., Thalassaemia in the next millennium. Keynote address. Ann N Y Acad Sci 1998 Jun 30; 850:1-9. 42 Proposal for a Regulation of the European Parliament and of the Council on the establishment of a Programme for the Union's action in the field of health for the period 2021-2027 and repealing Regulation (EU) No 282/2014 (“EU4Health Programme”) COM/2020/405. 13 PREVENTION AND EARLY DIAGNOSIS Prevention and screening of haemoglobin disorders are well established and managed in countries where these diseases were traditionally endemic (e.g., Cyprus, Greece, Italy) or in states with a long tradition of receiving migrants (e.g., France, United Kingdom). Nevertheless, in the last decade, migrants from countries with a prevalence of thalassaemia to non- prevalent countries, including Central and Northern Europe, have increased rapidly. Only four EU countries have established comprehensive prenatal screening programmes to address thalassaemia, namely Italy, Greece, Cyprus and France43. In several Central and Northern European countries, data show that migrant population groups are underdiagnosed. Their particular care needs are not sufficiently recognized and integrated into national health systems, and specific national programmes for prevention and screening are only present in countries with experience and knowledge of the migration issue. Governments' reluctance or delay in adopting screening and prevention programmes may be partly attributed, depending on the country, to an underestimation of the burden these diseases entail, and the inadequate budgets allocated for screening and prevention. Although extensive literature has shown that specific health policies and screening actions bring enormous economic benefits, official references have not been published yet. Lack of knowledge of screening programmes' advantages leads to reduced prevention strategies and limited access to quality health care, especially in Central and Northern European Member Syta where prevention programmes do not exist. In several Central and Northern European countries, data show that migrant population groups are underdiagnosed. Their particular care needs are not sufficiently recognized and integrated into national health systems, and specific national programmes for prevention and screening are only present in countries with experience and knowledge of the migration issue. Governments' reluctance or delay in adopting screening and prevention programmes may be partly attributed, depending on the country, to underestimating the burden of these diseases and the low or inadequate costs associated with screening, diagnosis, and clinical management. CLINICAL MANAGEMENT Clinical care of haemoglobinopathies has improved dramatically over the last three decades, resulting in an impressive increase in the survival rates and quality of those affected. Though healthcare standards are very high in the EU, the rarity of these disorders in Central and Northern Europe has led to a deficiency in standardized plans in conjunction with variable treatment practices solely based on the single practitioner’s approach. During their lives, patients require different healthcare services depending on the form and severity of their pathology. Such services include constant monitoring, particularly amongst thalassaemia patients, specialized diagnostic procedures, notably MRIs, blood transfusions, and chelating agents. Treatment of 43 Aguilar-Martinez P, Angastiniots M, Eleftheriou A, Gulbis B, Manu Pereira MM, Petrova-Benedict r, Vives- Corrons JL. Haemoglobinopathies in Europe: health & migration policy perspectives. Orphanet j Rare Dis. 2014, 9:97. 14 these diseases requires not only the intervention of haematologists, but also the support of experts from other disciplines such as cardiology, neurology, psychology and orthopaedics, among others. For all these reasons, thalassaemia and sickle cell disease need a multidisciplinary approach, able to provide the patients with the all-around support and assistance they need. Clinical management is of higher quality in those countries where the disorders are well-known and endemic, that is to say Member States found in the Mediterranean Basin, where multiple centres of excellence, involving experts, multidisciplinary care, and transfusion facilities, have been established throughout the years. The quality and availability of clinical care in the remaining Member States, with few exceptions, is rather heterogeneous. In Central and Northern European countries patients denounce the lack of adequate multidisciplinary care and the inability of local reference centres to guarantee proper treatment. Recent mass migration flows in 2016 and 2017 have brought more than 500,000 migrants and refugees to Europe, mostly coming from high-prevalence areas. Notwithstanding, healthcare professionals do not have easy access to specialist knowledge about diseases, and the number of designed expert centres in thalassaemia and sickle cell disease is around 200 in just 13 EU countries 44. The EuroBloodNet initiative, approved by the European Commission (EC) in December 2016, contributed to the improvement of healthcare services in countries like France, Sweden, and the Netherlands but did not have a remarkable effect on the remaining participants. The generalised lack of specialized centres compromises the quality of clinical care. In those EU countries where haemoglobinopathies are not endemic, the majority of cases are found in migrant strands of the population. Despite the alarming increase in the number of migrants and refugees arriving and currently living in Europe from countries with an extremely high prevalence of thalassaemia, systematic data and knowledge is not always available in the centres of reference. As a result, there is evidence that doctors are not prepared to manage the clinical aspects of these diseases and that the reference centres do not seem to collaborate locally. This often implies that, in addition to the confined knowledge on the complications of the disease, the patient will have to face the difficulties that being a foreigner entails, for instance language barriers, leading to even more limited access to care. ACCESS TO MEDICINES More severe forms of Thalassaemia and Sickle Cell Disease require specialized and regular treatment, however, the access to therapy is compromised by various factors, particularly unpreparedness of receiving structures and heterogeneous standards of care. In addition to this, it is fundamental to implement an EU Strategy that, starting from Regulation (EC) No 141/2000 on Orphan Medicinal Products, takes into account the recent pharmaceutical developments and aims to make a final cure possible for affected EU citizens. In the last two decades, remarkable scientific and medical progress have been achieved, mainly from the Southern European countries. Increased scientific interest results in research for novel therapies and the quest for the much anticipated “final cure”. Pharmaceutical induction of haemoglobin F synthesis and gene therapy hold great promise for treating haemoglobin disorders, although more research is needed, particularly on gene therapy. 44 http://www.orpha.net/ 15 In the majority of European countries and despite the existence of robust health infrastructures, haemoglobin disorders are not recognized as a health priority to-date, mainly because they are not occurring in the indigenous population and are considered rare. Services are still not adequate or appropriately integrated into their national health systems or other existing relevant programmes. The rarity of these disorders is an additional limiting factor for service development and professional competency. Access of all patients in a country, even where appropriate services exist, can be very restricted due to linguistic, cultural, social, and religious constraints which constitute the other major challenge in Europe. The heterogeneous spread of affected migrants in a host country, with low educational and health literacy and the absence of national registries, are additional challenges that hamper appropriate planning for the development of effective programmes and services. The uneven level of health care services across EU countries is an unmet challenge for the European Union Member States45. The majority of EU countries have still not established disease-specific programmes and have not focused sufficiently on decreasing health inequalities amongst patients with haemoglobin disorders. Ongoing clinical trials for novel cures have given positive results and represent a great hope for the patients’ community, however, the production of a final cure entails several safety and accessibility concerns. The high cost of such therapies and the limited market may discourage the pharmaceutical industry from producing it, depriving patients of a permanent solution. Therefore: Considering the objectives of the EU4Health Programme 2021-202746 focusing on the need to strengthen the effectiveness, accessibility, sustainability and resilience of health systems; Taking into account the EU Commission decision of 17.7.201847; calling upon Member States to focus on enhancing the response to chronic diseases by developing joint activities on prenatal prevention and screening; Taking into account the European Commission Communication 0291/200948, calling upon Member States to implement multidisciplinary care to enhance optimal coordination among health professionals and patients; Taking into account Article 35 of the EU Charter of Fundamental Rights, Article 168 of the Treaty on the Functioning of the European Union, and Articles 11 and 13 of the European Social Charter regarding Health Care; Considering the above-stated heterogeneous healthcare practices for blood disorders patients; Bearing in mind the promising developments in therapy research and pharmaceutical advances, but also the high cost that these entail; Taking into account the need to share knowledge of good practices and information on preventive measures at the European level; 45 European Commission (2017), State of Health in the EU: Companion Report 2017, Luxembourg: Publications Office of the European Union, p. 36. 46 Proposal for a Regulation of the European Parliament and of the Council on the establishment of a Programme for the Union's action in the field of health for the period 2021-2027 and repealing Regulation (EU) No 282/2014 (“EU4Health Programme”) COM/2020/405. 47 Commission Delegated Decision (EU) 2018/1007 of 25 April 2018 supplementing Directive 2009/42/EC of the European Parliament and of the Council as regards the list of ports and repealing Commission Decision 2008/861/EC (Text with EEA relevance.) C/2018/2382 Proposal for a Regulation of the European Parliament and of the Council on the establishment of a Programme for the Union's action in the field of health for the period 2021-2027 and repealing Regulation (EU) No 282/2014 (“EU4Health Programme”) COM/2020/405. 16 We invite the European Commission to encourage and support the development and implementation of national disease-specific clinical guidelines and protocols that will improve the efficiency of health systems and yield better health outcomes for patients, irrespective of their background. These should be based on TIF’s international guidelines for the clinical management of haemoglobinopathies which have been adopted by more than sixty (60) countries globally and have led to the dramatic increase of patients’ life expectancy. We further invite the European Commission to promote the development of synergies between Member States to increase their negotiating power for procuring medicines. 3rd Priority  Supporting national patient associations and patient support groups will Social Care empower patients to address social inequities and provide peer-to-peer support. In most European countries, despite the existence of solid health infrastructures, haemoglobin disorders are not considered a health priority, especially because they do not occur in the indigenous population. Services are not yet adequate and integrated into national health systems or in other reference centres. This framework contributes to socially isolating patients, who instead need to be guided and integrated in social life. The great impact of these disorders on the daily life of patients and the deriving mental health issues are vastly underestimated and need to be addressed on a broader level with disease-specific mental health programmes. Severe forms of Thalassaemia require regular care; therefore, patients’ daily life may be seriously compromised by therapeutic needs, causing a sense of distress and isolation. The multiplicity of clinical complications the disease entails also represent a source of mental health-related issues, rarely addressed by general healthcare national plans. Children and adolescents affected by severe forms are also more prone to depression49and report lower mental health scores50. Furthermore, patients' social integration may be weakened by linguistic, cultural, social, and religious constraints, often representing a challenge to integration. In addition, the high prevalence of Thalassaemia and Sickle Cell Disease in the immigrant population implies that disease-related mental issues are to be added to previous challenges and distress, such as communication and integration difficulties or isolation.51 For instance, the heterogeneous spread of migrants in a host country, with low school and health literacy and the absence of national registers, are additional challenges that hinder patients' social inclusion. Eurostat in 2017 confirmed through a survey that 22% of citizens, 28% of foreign EU citizens, and 50% of non-EU citizens in the EU faced the risk of poverty or social exclusion52. 49 Mazzone, Luigi, et al. "Emotional impact in β-thalassaemia major children following cognitive-behavioural family therapy and quality of life of caregiving mothers." Clinical practice and epidemiology in mental health 5.1 (2009): 5. 50 Musallam, Khaled M., et al. "Health‐related quality of life in adults with transfusion‐independent thalassaemia intermedia compared to regularly transfused thalassaemia major: new insights." European journal of haematology 87.1 (2011): 73-79. 51 Kirmayer, Laurence J., et al. "Common mental health problems in immigrants and refugees: general approach in primary care." Cmaj 183.12 (2011): E959- E967. https://ec.europa.eu/eurostat/statistics-explained/index.php/Migrant_integration_statistics 17 Access to mental health is unsatisfactory even in high-income countries with universal healthcare coverage and well-developed community care systems. Reports show that coverage is better for severe mental disorders, such as psychoses, and much worse for depression and common mental disorders53, affecting the most thalassaemic and sickle cell disease community. The stigmatization surrounding mental health issues represents a barrier and often discourages patients, whose social inclusion may be already compromised by the pre-existing condition, from accessing care.54 Mental health is at stake also for the parents of patients faced with great stress and uncertainty, particularly at the time of the diagnosis. Nonetheless, patients suffering from haemoglobinopathies can be productive citizens, "paying back" everything that has been invested by governments for their health. However, most EU countries have not yet established specific programmes for the disease and have not sufficiently focused on reducing health inequalities among patients with haemoglobin disorders across the EU55. Therefore: According to the Principles of the European Pillar of Social Rights (Chapter I, II and III)56; Keeping into account the European Framework for Action on Mental Health and Wellbeing; Considering the EU-Compass for Action on Mental Health and Well-being; Acknowledging the here-mentioned issues; Following objective number 22 of the EU4Health Programme 2021-2027;57 We invite the European Commission to:  Promote the implementation of national measures in the support of the mental health of patients and their equitable access to care, irrespective of their background or status;  Call upon Member States to encourage the creation of national patient associations of patient support groups to safeguard the patients' social rights and provide peer-to-peer support, fighting against social isolation and exclusion.  Recognition of the right of everyone to the enjoyment of the highest attainable Human standard of physical and mental health will not leave any patient with Rights thalassaemia or other disease of the haemoglobin behind. Human rights principles that apply to patients’ care include both the right to the highest attainable standard of health - covering both positive and negative guarantees - and civil and political rights. Patient care is a discrete and important aspect of the right to health that deserves attention and scrutiny 58. Taking into account Article 2 of the Universal Declaration of Human Rights, non-discrimination applies to all general aspects of life, and should be interpreted as granting equal access to quality health care, including facilities, goods, and services. The current policies in place in several Member States regarding healthcare services provided to migrants – particularly those who are undocumented – are heavily 53 Barbato, Angelo, et al. "Access to mental health care in Europe." Lisbon: EU Compass Consortium (2016). 54 Thornicroft, Graham. "Stigma and discrimination limit access to mental health care." Epidemiology and Psychiatric Sciences 17.1 (2008): 14-19. 55 Modell, B, Khan, M, et al 2001. A national register for surveillance of inherited disorders: β-thalassaemia in the United Kingdom. Bulletin of the World Health Organisation, 2001, 79 (11): 1006-1013 56https://eur-lex.europa.eu/legal-content/EN/TXT/?uri=COM:2017:251:FIN 57 Reapeling Regulation (EU) No 282/2014 (“EU4Health Programme”) 58 Clarke J. M. (2016), Stop denying migrants their fundamental right to healthcare BMJ 2016; 353 doi: https://doi.org/10.1136/bmj.i1971 (Published 12 April 2016) 18 challenging such principles, only granting emergency care. This practice compromises a great number of migrant patients affected by chronic diseases, limiting their access to therapy and is de facto discriminatory59. Limited knowledge and inadequate management of these diseases negatively impacts on patients' enjoyment of human rights, such as the right not to be discriminated (UDHR Art. 2), the right to education (UDHR Art. 26.1), the right to work, free choice of work, fair and favourable working conditions and protection against unemployment (UDHR Art. 23.1), the right to a standard of living adequate for health and well-being (UDHR Art. 25.1), the right to marry and start a family (UDHR Art. 16.1). In this context, the right to education is also often compromised, as health services for minors are provided mainly during the hours when the patients should be at school. 61% of thalassaemia patients are treated in the morning60, this compromises school attendance and may lead to early school leaving. In addition, even if patients are fully qualified, employers often reject them because of prejudice and discrimination 61. The right to an adequate standard of living for health and well-being (UDHR Art. 25.1) implies the availability of safe pharmaceutical support and access to the necessary medicines and medical care. 27.4% of patients had to pay for basic care (partially or totally) in seven EU Member States and 23% had to pay for visits to specialists in nine EU Member States62. Furthermore, concerning the right to marry and to start a family (UDHR Art. 16.1), patients with haemoglobin disorders are often in a prejudicial position concerning marriage and choice of partner. In a questionnaire administered to 354 patients with thalassaemia in 2016, only 33.5% were married. This aspect is closely related to the right to information (ICCPR Art. 19.2) regarding the obligation of the state to provide the community with all necessary data about the disease in order to prevent social discrimination. Patients often do not have access to scientifically accurate educational and information material, seriously compromising their right to education and information (UDHR art. 26.1; ICCPR art. 19.2). There is also evidence that patients with Thalassaemia and Sickle Cell Disease do not have the opportunity to fully participate in political life (ICCPR art. 25), with the result of being socially and politically marginalized. Finally, among all the rights mentioned, the right to the highest attainable level of health (ICESCR Art. 12; ICERD Art. 5; CRC Art. 24; ESC Art. 11; ESC Art. 13) seems to be the most compromised, since physicians and health facilities are not easily accessible to all the members of the community. Therefore: Taking into account Article 9 and 168 of the Treaty on the Functioning of the European Union; Considering Article 35 of the Charter of Fundamental Rights of the European Union; Considering Article 18, 19 and 22 of the International Covenant on Civil and Political Rights; Further considering Article 7 and 10 of the International Covenant on Economic, Social and Cultural Rights; 59 Cappellini MD, Cohen A, Porter J, Taher A, Viprakasit V, editors. Guidelines for the management of transfusion dependent thalassaemia. 3 rd ed. Thassaemia International Federation. Publication 20. 2014. 60 WESS Surver 2010, https://www.un.org/en/development/desa/publications/world-economic-and-social-survey-2010.html 61 ENERCA White Book. 62 ibidem 19 Acknowledging Article 9, 10 and 11 of the European Convention for the Protection of Human Rights and Fundamental Freedoms; Further acknowledging Article 2, 3 and 8 of the European Social Charter; We invite the European Commission to:  Ensure the protection of patients' rights through a pervasive human rights framework regulating the provision of care to patients in all its aspects, including equality, participation, transparency, and accountability.  Call upon Member States to ensure a higher level of human health protection in defining and implementing their respective political agendas, ensuring social, political and economic rights for all patients suffering from rare diseases. Conclusion The ambition of TIF and its Members is to see people living with haemoglobin disorders integrated in an inclusive society, sensitive to their specific needs and every day struggles. To achieve this, it is urgent to address the existing unmet medical and social needs by first acknowledging the very existence of this public health problem. Then, all stakeholders, working in collaboration, have the capacity to co-develop the necessary sustainable strategies and policies, drawing ample knowledge from patients themselves. TIF thus calls upon the EU and all its Member States to ensure that the recommendations set out herein are incorporated into and effectively implemented via key instruments at national and European levels. Such instruments, albeit important, will not suffice to bring change for the benefit of patients and each country’s national health system. More action and sustained collaboration between all interested stakeholders are required to effectively develop and implement policies and services that guarantee better health outcomes and more robust healthcare systems. T h e t i m e t o a c t i s n o w . 20  Key Bibliography Angastiniotis, M., Vives Corrons, J. L., Soteriades, E. S., & Eleftheriou, A. (2013). The impact of migrations on the health services for rare diseases in Europe: the example of haemoglobin disorders. The Scientific World Journal, 2013. Angastiniotis, M., Modell, B., Englezos, P., & Boulyjenkov, V. (1995). Prevention and control of haemoglobinopathies. Bulletin of the World Health Organization, 73(3), 375. Angastiniots M., Eleftheriou A., Gulbis B., Manu Pereira MM., Petrova-Benedict R., Vives- Corrons JL. (2014). Haemoglobinopathies in Europe: health & migration policy perspectives. Orphanet j Rare Dis. Cappellini M., Cohen A., Porter J., Taher A., Viprakasit V. (2014). Guidelines for the management of transfusion dependent thalassaemia.: Vol. 3rd ed. Thalassaemia International Federation (TIF). Clarke, J. M. (2016). Stop denying migrants their fundamental right to healthcare. BMJ Coulter A., Parsons S., Askham J. (2008). “Policy Brief: Where are the patients in decision-making about their own care?” WHO European Ministerial Conference on Health Systems: Health Systems, Health and Wealth, Tallinn, Estonia, pp. 25-27. Jaeger, U., Chomienne, C., Cools, J., & Smand, C. (2016). Blood disorders stepping into the limelight. haematologica, 101(2), 101. Kattamis, A., Forni, G. L., Aydinok, Y., & Viprakasit, V. (2020). Changing patterns in the epidemiology of β‐thalassemia. European Journal of Haematology. Li, C. K. (2017). New trend in the epidemiology of thalassaemia. Best Practice & Research Clinical Obstetrics & Gynaecology, 39, 16-26. Martinez, P. A., Angastiniotis, M., Eleftheriou, A., Gulbis, B., Pereira, M. D. M. M., Petrova-Benedict, R., & Corrons, J. L. V. (2014). Haemoglobinopathies in Europe: health & migration policy perspectives. Orphanet journal of rare diseases, 9(1), 97. Weatherall, D. J., & Clegg, J. B. (2001). Inherited haemoglobin disorders: an increasing global health problem. Bulletin of the World Health Organization, 79, 704-712. 21 ABOUT THALIA Thalassaemia, a previously fatal childhood genetic disease, can today be effectively prevented and adequately treated, as a result of the medical and scientific advances that took place in the last three decades. However, thalassaemia’s prioritisation on national health agendas and the development of national plans for its effective control in the EU has been hampered by the many challenges involved, mainly related to its rarity and migration. “THALassaemia In Action” (THALIA) focuses on Europe, targeting patients with thalassaemia and other haemoglobinopathies, healthcare professionals and policymakers. THALIA has a special focus on: 1) countries that receive most refugees and migrants from countries with high prevalence in thalassaemia; namely France, Germany, Sweden; 2) major transit countries for migrants; namely Serbia and Austria. Based on TIF’s main pillars of activities, THALIA aims to attain four general objectives:  Continue and strengthen the education of patients/parents and healthcare professionals, as well as the patients’ capacity, competency and networking within and across countries and regions of Europe. This is to be achieved via the development of e-learning tools and the launching of capacity building courses and training seminars.  Raise awareness on thalassaemia and the importance of optimal care amongst the public at large, as well as among THALIA target groups at national and European level. This will be attained using an array of online tools, activities and publications.  Prioritise haemoglobin disorders and their control (prevention and management) at European level. This will be accomplished by establishing and training national patients’ associations in EU priority countries, creating an EU Electronic Health Record and entering into policy dialogue with policymakers at national and European level.  Support research programmes and studies focused on the clinical management of Thalassaemia. This is to be achieved via the publication of guidelines on the clinical management of Thalassaemia, participating in scientific conferences and providing medical specialists in priority countries with fellowships. 22