Aguilar Martinez Patricia, Angastiniotis Michael, Eleftheriou Androulla, Gulbis Beatrice, Mañú Pereira Maria Del Mar, Petrova-Benedict Roumyana, Corrons Joan-Lluis Vives
Red Cell Pathology Unit, Hospital Clinic, University of Barcelona, c/ Villarroel 170, 08036 Barcelona, Spain.
Orphanet J Rare Dis. 2014 Jul 1;9:97. doi: 10.1186/1750-1172-9-97.
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.
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.
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.
主要血红蛋白病（MH），如地中海贫血综合征（Thal）和镰状细胞疾病（SCD），是与慢性贫血及其他并发症相关的基因缺陷。在欧洲，MH属于罕见病（RD），但由于人口流动和移民潮，其在许多国家的患病率显著上升。这在欧盟引发了日益严重的健康问题，而成员国当局尚未有效应对。本研究旨在：（i）概述10个欧盟成员国针对MH的政策；（ii）分析因人口、流动和移民趋势带来的不断增长的需求而与这些罕见病相关的挑战；（iii）找出差距，对现有政策提出改进建议，或制定新政策以满足已确定的需求。
该研究由欧洲罕见与先天性贫血网络（ENERCA）和地中海贫血国际联合会（TIF）的一组成员与博雅公关布鲁塞尔公司合作开展。通过有针对性的案头研究以及与包括医疗保健专业人员、患者和公共卫生官员/提供者在内的当地利益相关者进行一对一访谈，收集了来自10个欧盟国家的数据。
本研究在2006年世界卫生组织关于MH的建议基础上，提出了十项政策建议，以将血红蛋白病纳入国家罕见病行动计划。
