Androulla Eleftheriou

Haemoglobinopathies in Europe: health & migration policy perspectives.

BackgroundMajor 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.MethodsThe 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.Results1. 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.ConclusionsTen 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.

Epidemiology of Rare Anaemias in Europe

Registry and epidemiological data of Rare Anaemias (RA) in Europe is in general still incomplete and/or partially documented. One important issue is the increasing prevalence of haemoglobin disorders (HD) due to migrations from high prevalence areas. The size of the problem, particularly for sickle cell disease (SCD), is already having an impact on health services in many European countries. The best known cause of rare anaemias associated with congenital haemolytic anaemia (CHA) in Europe is Hereditary Spherocytosis (HS) a red blood cell (RBC) membrane defect with a prevalence of 1 to 5 cases per 10.000 individuals. Some other causes of CHA are extremely rare and only few individual cases have been described worldwide (i.e. some RBC enzymopathies). Congenital defects of erythropoiesis are less frequent Diamond-Blackfan Anaemia (DBA) and Fanconi Anaemia (FA) exhibit a very low prevalence ranging from 4 to 7 per million live births. Congenital Dyserythropoietic Anaemia (CDA), a genetically heterogenous group, is still less frequent and exhibits a large variability of frequency depending on the European region: 0.1-3.0 cases per million births In addition many cases are known from a large autosomal dominant family in Sweden. Although incidence of Paroxysmal Nocturnal Haemoglobinuria (PNH) in Europe is still unknown, data collection from different sources has given quotes of 1 case per 100,000 individuals to 5 cases per million births.

Cross-talk between available guidelines for the management of patients with beta-thalassemia major.

Efforts to optimize the management of patients with β-thalassemia major (TM) continue to expand. Evidence from biomedical research evaluating safe and careful processing measures of blood products, the efficacy and safety of oral iron chelators, and noninvasive techniques for the assessment of iron overload are translated into better patient outcomes. The construction of TM management guidelines facilitated the incorporation of such evidence into practice. However, as several aspects of the management of TM remain controversial or governed by resource availability, a concern regarding potential variations in recommendations made by the different guidelines becomes rational, especially for physicians treating TM patients outside countries where the guidelines were constructed. In this work, we overview currently available guidelines for the management of TM and explore apparent similarities and differences between them. The evaluated guidelines included the Thalassaemia International Federation, US, Canadian, UK, Italian and Australian guidelines. We noted a general consensus for most aspects of management, although some guidelines provided more comprehensive and contemporary recommendations than others. We did not identify differences warranting concern, although minor differences in iron overload assessment strategy and more notable variations in the recommendations for iron chelation therapy were observed.

REQUIREMENTS FOR A REFERENCE OR EXPERT THALASSEMIA CENTER: THE STRUCTURE/MODEL FOR CENTERS DEALING WITH CHRONIC/HEREDITARY BLOOD DISORDERS

Chronic disorders, such as the hemoglobin disorders, have a multi-organ involvement and are subject to complications, requiring multidisciplinary care. Most convenient for the patient is the concentration of expertise under one roof and where routine care, such as blood transfusions, can be provided away from acutely ill patients with episodic infections and other conditions. These specialized centers already exist but as yet the standards, which should designate a center as an expert center or a reference center, have not yet been specified or applied. This article examines standards that have been described by two separate authorities in the United States and Europe and suggests the application of these standards to existing or proposed hemoglobinopathy centers.

Patient care: Unmet needs globally

Literature demonstrates that long survival and a good quality of life are achieved where the patients’ needs for holistic care are recognised and the appropriate services are offered. The once fatal diseases of childhood have become chronic conditions of adult life. [8, 9, 10]. TIF’s mission is to promote and assist in the implementation of national programmes for the treatment of thalassaemia and other haemoglobin disorders, wherever the patients may be residing, driven by the vision of equal access to quality healthcare for every patient [1]. The purpose of this paper is to report on preliminary results of a global TIF survey that sought to examine the inequalities, which patients experience in their management by services and professionals across the world, and identify some of the reasons contributing to such inequalities. Emphasis in this investigation is given to the services that are offered from the patients’ point of view. This work derives from, and is part of TIF’s ongoing relationship with its member associations, individual patients, as well as health professional and health authorities.