Search Results (13)

Background and Objectives: The effective management of chronic diseases, particularly hereditary and rare diseases and thalassaemia, is an important indicator of the quality of healthcare systems. We aimed to assess healthcare services in different countries for thalassaemia patients by using publicly available health indicators and by surveying thalassaemia patients and their caregivers. Materials and Methods: We reviewed official worldwide databases from the WHO, World Bank, and scientific resources, and we used a structured patient-tailored self-completed questionnaire to survey thalassaemia patients and their caregivers in 2023. Results: A total of 2082 participants were surveyed (mean age, 27 years; males, 42%). About 1 in 4 respondents did not complete high-school education, while 24% had a bachelor’s degree. About a third of respondents were married and were in either full- or part-time employment. The vast majority (~80%) had initiated transfusion therapy between 1 and 4 years of age. Only 42% reported no delays in receiving blood transfusion, while 47% reported occasional delays and 8% serious delays. About half of patients reported being very satisfied (11%) or satisfied (38%) with the quality of services provided, while 1 in 3 patients reported being unsatisfied or very unsatisfied, and that their access to treatment was difficult or very difficult due to traveling expenses and the high cost of treatment. Conclusions: Important improvements in the care of thalassaemia patients have been documented during the past few decades. Nevertheless, additional focus is required through national healthcare systems to effectively address the many unmet needs revealed by our recent survey, as well as to achieve satisfactory patient outcomes. Full article

Thalassaemia International Federation (TIF), representing the united voice of people with thalassaemia and their families globally, has been striving for more than three decades to empower research, by academic communities and industry, to focus on developing a safe and effective curative approach for thalassaemia. Such a cure would lead to new lives with equal opportunities and challenges, as for every other person not suffering from a severe chronic disease. A gene therapy product was finally authorised in May 2019 by the European Medicinal Agency, thus marking a milestone in the history of the disease. However, after this conditional authorization, everyone focused on numbers and opted for cost of illness and cost-effectiveness studies, inadmissibly ignoring patients’ voices and needs. The product was finally withdrawn from Europe, despite the fact that all implicated stakeholders, including governments, academia and industry always knew that an innovative and complex therapy would be expensive but always supported and fought for its development. In this article, TIF expresses its view on this issue, including some thoughts on how to address the high cost of innovative therapies. Full article

Haemoglobin disorders are hereditary, lifelong and characterised by the need for multifaceted management. The question of quality in meeting standards of care that are likely to bring the best possible outcomes for patients is a necessary consideration. The concept of reference centres supporting peripheral treatment centres in a formal networking relationship is a response to the real needs of patients and a practical solution in public health terms. In this report, a team of advisors of Thalassaemia International Federation (TIF) attempts to suggest a set of standards for haemoglobinopathy reference centres, also based on the founding principles of TIF, aiming to act as a guideline for its member associations and professional collaborators. The standards described herein can form the basis of an accreditation process and also serve as a guide for those who would advocate for quality improvement for thalassaemia services. Full article

Haemoglobinopathies, including thalassaemias and sickle-cell syndromes, are demanding, lifelong conditions that pose a significant burden to patients, families, and healthcare systems. Despite the therapeutic advances and the resulting improvements in prognosis accomplished in past decades, these patients still face important challenges, including suboptimal access to quality care in areas with developing economies, changing epidemiology due to massive migration flows, an evolving clinical spectrum due to ageing in well-treated patients, and limited access to novel high-cost therapies. We herein describe the organization of healthcare services for haemoglobinopathies in Cyprus—with particular focus on beta-thalassaemia, the most prevalent condition in this region—along with selected patient outcomes. This report aims at underscoring the fact that nationally funded and well-coordinated prevention and care programmes for chronic and complex conditions, such as haemoglobinopathies, with active involvement from patient organizations lead to effective disease control and excellent outcomes in survival, quality of life, social adaptation, and public health savings, and allow timely and effective responses to emerging crises, such as the COVID-19 pandemic. The Cyprus paradigm could therefore serve as a blueprint for the organization or adaptation of haemoglobinopathy programs in other countries since these disorders are still widely occurring. Full article

Hemoglobin disorders (thalassemia and sickle cell disease) are a group of hereditary anemias that today occur across the world. The recent population movement has led to a steady increase of carriers and patients in all countries of the European Union. Requiring complex monitoring and treatment and, as a consequence, well-organized and nationally coordinated, supported and funded services, these lifelong conditions are now visible to healthcare services in the EU. The purpose of this study is to provide an overview of the current situation pertaining to these disorders, as perceived by the patient/parent community that the Thalassemia International Federation (TIF) represents. The aim is to establish a comprehensive understanding of the situation and unmet needs faced by migrants with thalassemia. The implementation of activities by TIF in 2018–2020 to identify and address these challenges, paves the way to increased awareness, education and policy changes building on international expertise and knowledge that will enable the provision of state-of-art clinical management services thus guaranteeing an improved quality of life. A bird’s eye view of the prevalence of these disorders is presented contributing to the further understanding of challenges met by both patients and healthcare professionals in the receipt and provision of quality healthcare respectively. Full article

Thalassemia is one of the important challenges of the health system in Iran. Recently the medicinal drug of luspatercept and gene therapy have opened new horizons for thalassemia treatment. The present article aims to evaluate the attitude of thalassemics in Iran about the new treatments. In this research, data collection through the virtual space has been practiced. The patients were required to declare their opinion on the aforementioned treatments. Finally, 128 male and 204 female plus 1 who did not specify their gender answered the questions. The results showed that despite patients’ positive attitude towards new treatments, their treatment experiences as well as the expenses of the new treatment practices are cause of concern. Moreover, the social problems like unemployment among thalassemics place impact on their perspective about treatment changes. Based on the findings of the present research, providing patients with more information about new treatment regimen and making the their expenses compatible with the economic status of the developing countries would be effective in making the new treatments accessible to all eligible patients. Full article

Patients with haemoglobin disorders, particularly β-thalassaemia or sickle cell disease (SCD) or combined forms, on account of their underlying disease pathology and associated (iron load mainly in the case of thalassaemia) co-morbidities are defined as high-risk individuals prone to develop more severe complications from coronavirus disease-2019 (COVID-19). Despite the fact that epidemiological evidence concerning severe acute respiratory syndrome-coronavirus-2 (SARS-CoV-2) infection in these patients is currently limited across the world, it is expected that COVID-19 pandemic will have a very serious, negative impact on national economies, healthcare and social systems and consequently significant respective repercussions on the patients particularly chronic ones, and their families. Although this may be a temporary challenge in some countries of high HDI and robust health, public health and social infrastructures, this can be a long term challenge with serious to tragic consequences in countries particularly devoid of universally covered heath care systems. Thalassaemia International Federation (TIF) in this present paper summarises the key challenges as expressed by the patients, their families and involved health care professionals themselves prior and consequent to COVID-19 pandemic, describes its response during the pandemic and expresses its position in support of its global patient community.
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Thalassemia syndromes are among the most serious and common genetic conditions. They are indigenous in a wide but specific geographical area. However, through migration they are spreading across regions not previously affected. Thalassemias are caused by mutations in the α (HBA1/HBA2) and β globin (HBB) genes and are usually inherited in an autosomal recessive manner. The corresponding proteins form the adult hemoglobin molecule (HbA) which is a heterotetramer of two α and two β globin chains. Thalassemia-causing mutations lead to an imbalanced globin chain production and consecutively to impaired erythropoiesis. The severity of the disease is largely determined by the degree of chain imbalance. In the worst case, survival is dependent on regular blood transfusions, which in turn cause transfusional iron overload and secondary multi-organ damage due to iron toxicity. A vigorous monitoring and treatment regime is required, even for the milder syndromes. Thalassemias are a major public health issue in many populations which many health authorities fail to address. Even though comprehensive care has resulted in long-term survival and good quality of life, poor access to essential components of management results in complications which increase the cost of treatment and lead to poor outcomes. These requirements are not recognized by measures such as the Global Burden of Disease project, which ranks thalassemia very low in terms of disability-adjusted life years (DALYs), and fails to consider that it ranks highly in the one to four-year-old age group, making it an important contributor to under-5 mortality. Thalassemia does not fulfil the criteria to be accepted as a target disease for neonatal screening. Nevertheless, depending on the screening methodology, severe cases of thalassemia will be detected in most neonatal screening programs for sickle cell disease. This is very valuable because: (1) it helps to prepare the affected families for having a sick child and (2) it is an important measure of secondary prevention. Full article

In response to the fundamental shift that has been taking place in the way chronic diseases are perceived and managed and the increasingly established role of patients as equal partners in the management of their condition, the Thalassaemia International Federation (TIF) has undertaken the design and development of a comprehensive online Expert Patients’ Programme (EPP) for patients with thalassaemia. Focusing particularly on β-thalassaemia, the most severe form of thalassaemia, the goal of the programme is to develop patients’ disease-related knowledge and self-care skills and enable them to co-manage their disease in a meaningful partnership with their treating physicians. An important goal of this ecourse is to empower patients to advocate for the improvement of national treatment services in every affected country. The aim of this article is threefold: (1) Relate TIF’s EPP with the goals and outcomes of other EPPs, as they are made available in the literature. (2) Describe the rationale and distinguishing features of TIF’s EPP on the basis of learning theories of knowledge acquisition and attrition, and best practices from the scientific disciplines of Human Computer Interaction (HCI) and Technology-Assisted Learning (TEL). (3) Relay the objectives of TIF’s EPP and the intended international impact in relation to TIF’s mission. Full article

The Community added value of Centres of Expertise (CoE) and European Reference Networks (ERN) is particularly high for rare diseases (RD) due to the rarity of these conditions, which implies both a small number of patients and scarcity of expertise within a single country. Gathering expertise at the European level is therefore, paramount in order to ensure equal access to accurate information, appropriate and timely diagnosis and high quality clinical care and follow up for patients with rare diseases. This applies particularly to rare anaemias due to the high number of different rare diseases that constitute this group. In this context, the European Network for Rare and Congenital Anaemias (ENERCA), co-financed by the European Commission, was created in 2002 with the aim of prevention and management of rare anaemias (RA) and the development and promotion of policies to improve the well-being of European Union citizens. The ENERCA White Book is a position paper, developed as a deliverable of the ENERCA (phase 3) project that intends to contribute to the creation of a ERN in RA (ERN-RA) by preparation of the recommendations and, in particular, the definition of the criteria that CoE, local centres (LC) and their interrelations have to fulfil as healthcare providers. It has been nourished by all the activities that have been performed over the past ten years within the ENERCA framework. The White Book is addressed to authorities in charge of the identifying CoE, as an essential requirement for the official recognition of the ERN, to European and national health authorities, Healthcare centres and health professionals, as well as to all other stakeholders interested in RA. It is also addressed to the patients, as a way to empower their community in this process. One particular characteristic of the White Book is the integration of the three main aspects of a CoE: (a) ethical and legal frameworks to ensure the non-discrimination and non-stigmatisation of rare disease patients across Europe, within their sphere of competencies; (b) clinical and laboratory frameworks for defining technical and quality criteria including scope, general and disease specific elements currently defined as technical and professional standards for the diagnosis, treatment and follow-up of patients with RA; and (c) the expectations patients have of CoE. Conceived as a working tool directed to a broad range of stakeholders, the White book has been designed and structured to be comprehensible even to non-technical and /or non-professional audiences. The reader will find an up-to-date description and epidemiological information on RA as well as the European Union background policies for defining CoE and ERN-RA. A working group was created with experts of different profiles, known as the European Working Group on Rare Anaemias (EGRA). In order to achieve its objectives, the methodology used by EGRA, was characterised by three main principles: Interdisciplinary, European coverage, and evidence-based principles. Work has been developed into four sequential steps: 1. Analysis of the current situation of RA in Europe by healthcare professionals in order to identify the most relevant issues that have to be addressed by a centre in order for it to be recommended as CoE. 2. Preparation of questionnaires to perform surveys on how the relevant issues identified in step 1 can be translated into practical recommendations. 3. Analysis of the questionnaire results by face to face meetings, feedback and consensus evaluation, and 4. Preparation of a report on ENERCA policy recommendations for CoE. This report is presented in a user-friendly format, easy to understand and available through the ENERCA website (www.enerca.org). Several important conclusions can be drawn from the ENERCA White Book, including the importance of laboratories involved in the diagnosis of RA, patient oriented and multidisciplinary care at the CoE, the need for coordination and cooperation within and outside the centre, the provision of information to patients and health professionals and the involvement of public authorities at the national and European levels. Official recognition of this structure and assurance of its long term sustainability will only be achieved if public authorities work hand by hand with both professionals experts in different disciplines and patients. Finally, the ENERCA White book aims to be a practical tool for health authorities of Member States (MS) that are preparing their national directory of formally designated CoE. For this, it is important that MS authorities recognise RA as an important health component to be included within the National Plans or Actions for Rare Diseases. Full article