Haemoglobinopathies in Europe: health & migration policy perspectives

Orphanet Journal of Rare Diseases

Joan-Lluis Vives Corrons⁵  Roumyana Petrova-Benedict¹  Maria Del Mar Mañú Pereira⁵  Beatrice Gulbis⁴  Androulla Eleftheriou³  Michael Angastiniotis³  Patricia Aguilar Martinez² 

[1]International Organization for Migration (IOM), Migration Health Division (MHD), Regional office (RO), Brussels, Belgium

[2]CHU de Montpellier, Saint Eloi Hôpital, Montpellier, France

[3]Thalassaemia International Federation, Nicosia, Cyprus

[4]Clinical Chemistry Department, Hôpital Université Libre de Bruxelles, Brussels, Belgium

[5]Red Cell Pathology Unit, Hospital Clinic. University of Barcelona, c/ Villarroel 170, 08036 Barcelona, Spain

关键词: Policy recommendations;    Europe;    Migrant health;    Population migration;    Sickle cell disease;    Thalassaemia;    Haemoglobinopathies;   

Others  :  861384
DOI  :  10.1186/1750-1172-9-97

 received in 2014-04-02, accepted in 2014-06-06,  发布年份 2014

【 摘 要 】

Background

Major haemoglobinopathies (MH), such as thalassaemia syndromes (Thal) and sickle cell disorders (SCD), are genetic defects associated with chronic anaemia and other complications. In Europe, MH are rare diseases (RD) but their prevalence is significantly growing in many countries due to mobility and migration flows. This creates a growing health problem in the EU that has not yet been effectively addressed by Member States (MS) authorities. The present study has been conducted with the aim of: (i) providing an overview of policies for MH in 10 EU member states (MS) (ii) analysing the challenges linked to these RD due to growing requirements imposed by population, mobility and migration trends and (iii) identifying gaps, proposing improvements on existing policies, or developing new ones to fit the identified needs.

Methods

The study has been undertaken by a group of members of the European Network for Rare and Congenital Anaemias (ENERCA) and the Thalassaemia International Federation (TIF), in collaboration with the public affairs firm Burson-Marsteller Brussels. Data from 10 EU countries have been gathered using targeted desk research and one-to-one interviews with local stakeholders, including healthcare professionals, patients and public health officers/providers.

Results

1. MH are the most common RD in all the 10 countries, 2. Data on prevalence, overall burden, trends, and clinical follow up costs are lacking in most countries. 3. Neonatal screening practices show a wide variation across and within countries. 4. Awareness on MH and their related complications is very low, exception made of Italy, Greece, Cyprus and UK, 5. No disaggregated data is available to understand the impact of mobility and migration on the prevalence of haemoglobinopathies, and how healthcare delivery systems should adapt to respond to this situation. 6. Targeted policy measures and/or actions are generally lacking and/or delayed.

Conclusions

Ten policy recommendations have been drawn from this study, building on 2006 WHO recommendations for MH to include haemoglobinopathies in National Plans of Actions for Rare Diseases.

【 授权许可】

   
2014 Aguilar Martinez et al.; licensee BioMed Central Ltd.

【 参考文献 】

• [1]Management of haemoglobin disorders: report of joint WHO-TIF Meeting, Cyprus, November 2007. 2007. http://www.who.int/genomics/WHO-TIF_genetics_final.pdf webcite
• [2]Haemoglobinopathies on the Move: Is Europe ready? Health and Migration Policy Perspectives. http://www.enerca.org webcite and http://www.thalassaemia.org.cy webcite
• [3]Modell B, Darlison M: Global epidemiology of haemoglobin disorders and derived service indicators, Bulletin of the World Health Organization. 2008. http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2647473/pdf/06-036673.pdf webcite
• [4]Gulbis B, Eleftheriou A, Angastiniotis M, Ball S, Surrallés J, Castella M, Heimpel H, Hill A, Corrons JL: Epidemiology of rare anaemias in Europe. Adv Exp Med Biol 2010, 686:375-396.
• [5]Mañu Pereira M, Vives Corrons JL: Neonatal haemoglobinopathy screening in Spain. J Clin Pathol 2009, 62:22-25.
• [6]What Is Sickle Cell Anemia? US National Heart Lung and Blood Institute. http://www.nhlbi.nih.gov/health/health-topics/topics/sca/ webcite
• [7]What are thalassemias? US National Heart Lung and Blood Institute. http://www.nhlbi.nih.gov/health/health-topics/topics/thalassemia/ webcite
• [8]Telfer P, Coen PG, Christou S, Hadjigavriel M, Kolnakou A, Pangalou E, Pavlides N, Psiloines M, Simamonian K, Skordos G, Sitarou M, Angastiniotis M: Survival of medically treated thalassaemia major patients in Cyprus. Trends and risk factors over the period 1980–2004. Haematologica 2006, 91(9):1187-1192.
• [9]Angastiniotis M, Vives Corrons JL, Soteriades ES, Eleftheriou A: The impact of migrations on the health services for rare diseases in Europe: The example of haemoglobin disorders. Sci World J 2013, 2013:727905.
• [10]Management of thalassaemia (Chapter 11), R. Galanello, R. Origa, European School of Haematology (ESH) Handbook on Disorders of Erythropoiesis, Erythrocytes and Iron Metabolism, December 2009. 2009. http://www.esh.org/files/doc/IRON2009_CAP.11(264–285).pdf webcite
• [11]Sickle cell disease: a short guide to management (Chapter 13), F. Galactéros, M. de Montalembert, European School of Haematology (ESH) Handbook on Disorders of Erythropoiesis, Erythrocytes and Iron Metabolism, December 2009. 2009. http://www.ironcurriculum.esh.org/Activity/1819_03/1819_03_chapter13.pdf webcite
• [12]De Montalembert M, Ferster A, Colombatti R, Rees DC, Gulbis B: on behalf of the European network for rare and congenital anaemias. Am J Hematol 2010, 34:72-74.
• [13]De Franchesi L, Bachir D, Galacteros F, Gulbis B, Voskaridou E, Ribeiro L: ENERCA Recommendations for first line management and standard follow up of Young and adult patients with sickle cell diseases (SCD). 2012. http://www.enerca.org webcite
• [14]The WHO Resolution on Migrant Health (WHA 61.17, 2008). 2008. http://apps.who.int/gb/ebwha/pdf_files/A61/A61_R17-en.pdf webcite
• [15]WHO/IOM Global Consultation on Migrant Health. http://www.iom.int/jahia/webdav/shared/shared/mainsite/activities/health/promotion/Health-of-Migrants.pdf webcite
• [16]Karnon J, Zeuner D, Brown J, Ades AE, Wonke B, Modell B: Lifetime treatment costs of β-thalassaemia major. Clin Lab Haem 1999, 21:377-385.
• [17]Bryan S, Dormandy E, Roberts T, Ades A, Barton P, Juarez-Garcia A, Andronis L, Karnon J, Marteau TM: Screening for sickle cell and thalassaemia in primary care: a cost effectiveness study. Br J Gen Pract 2011. 10.3399/bjgp11x601325
• [18]Koren A, Profeta L, Zalman L, Palmor H, Carina L, Bril Zamir R, Shalev S, Blondheim O: Prevention of β-thalassaemia in Northern Israel – a cost benefit analysis. Mediterr J Hematol Infect Dis 2014.
• [19]Resolution WHA59.20. Sickle-cell anaemia fifty-ninth World Health Assembly Resolution, Geneva, 27 May 2006 (WHA59/2006/REC/1
• [20]Resolution EB118/R1: Thalassaemia and other Haemoglobinopathies Executive Resolution board, 118th session, Geneva, 29 May 2006 (EB118/2006/REC/1) 2006.
• [21]Dyson SM, Culley LA, Gill C, Hubbard S, Kennefick A, Morris P, Rees D, Sutton F, Squire P: Ethnicity Screening Question and Ante-Natal Screening for Sickle Cell and Thalassemia (EQUANS) in England: A randomized controlled trial of two questionnaires. Ethn Health 2006, 11(2):169-189.
• [22]Activity Report 2011 and Plan of Activities 2012, Thalassaemia International Organisation (TIF). http://www.thalassaemia.org.cy/docs/2012%20TIF%20Plan%20Of%20Action.pdf webcite
• [23]EUCERD Recommendations to the European Commission and the Member States on European Reference Networks for rare diseases. http://ec.europa.eu/health/rare_diseases/european_reference_networks/index_en.htm webcite
• [24]ENERCA Recommendations for Centres of Expertise on Rare Anaemias. A White Book. in press