Thalassaemia prevention

Dr Androulla Eleftheriou

Thalassaemia International Federation

Continuing our theme of rare diseases this month, we interview Dr Androulla Eleftheriou on the topic of thalassaemia prevention and the work of the The Thalassaemia International Federation.

Thalassaemia is a rare, non-malignant haematological, genetic disorder in which the body makes an abnormal form of hemoglobin. Effective prevention and management of the disease can only be achieved with national commitments to integrate disease management into national policies.

The Thalassaemia International Federation (TIF) strives to achieve such commitment with the aim to develop and implement national control programmes for the prevention and clinical management of thalassaemia, across all affected countries.

Continuing the theme of rare diseases, we interview Dr Androulla Eleftheriou on the work of the TIF and how we can achieve effective prevention of thalassaemia.

Interview summary

RA: Dr Eleftheriou, thank you for agreeing to take part. Could you start by explaining about the work of TIF.

AE: The Thalassaemia International Federation (TIF) is a non-profit, non-governmental, international organization, which was established in 1986 by patients and parents. Our aim is to safeguard the rights of patients with thalassaemia and other haemoglobin disorders for access to safe and effective healthcare. Our overall mission is the development and implementation of national control programmes for the prevention and clinical management of thalassaemia, across all affected countries. To date TIF represents hundreds of thousands of patients with thalassaemia from 108 Nationals Thalassaemia Associations in 60 different countries globally. TIF has worked in official relations with WHO since 1996.

More recently and in the context of our work in the EU-funded project, we are working towards the development of reference centres (ENERCA), and their networking at the national and European level in order to achieve real access to quality care and diagnosis. We also advocate for the rights of patients with rare anaemias for access to quality health care including the right to safe and effective drugs and active involvement of patients in every decision / policy / development / reform that affects directly and indirectly their health and quality of life.

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“Community awareness is a very important element in our work…”

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RA: How can we increase awareness of thalassaemia prevention?

AE: Community awareness is a very important element in our work and TIF has embarked on using various tools to spread awareness about thalassaemia. Most importantly is the development of our long-lasting Educational Programme which involves two components:

(I) the preparation, distribution, and translation of material for both the patient and medical community, as well as the community at large.

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(II) the organisation of an extensive range of educational events, primarily workshops and conferences. TIF over the last 20 years has organized over 100 conferences, workshops and seminars at the international, regional and national level, which have been attended by more than 25,000 participants (patients, parents, health professionals, industry, academics etc) from over 62 countries.

TIF in addition has developed a very informative website and publishes on a quarterly basis a magazine, both of which are considered to be important tools in spreading information and knowledge on the subject.

Furthermore, TIF provides unwavering support to patient groups in more than 55 countries, promoting the development of national associations, which can in turn spread awareness through local workshops, dissemination of educational material and sensitization of mass media. National patient associations are the strongest advocates for thalassaemia control programmes and the most reliable partners of policy-makers in the development and implementation of national plans.

RA: What have been the latest therapeutic advances in this disease area?

AE: It is important to note that we are today talking about a rare, non-malignant haematological, genetic disease that is today shown to be effectively prevented and treated. This has been the result of the last three decades of scientific and medical advances. In order however for this to happen, national political commitments are necessary to develop and integrate the control of this chronic disease into the healthcare systems. The management of this disease is lifelong, challenging and costly, thus requiring a strong multidisciplinary approach and as such only free of charge access to medical care can improve the health and survival of these patients. Hence the integration of these diseases into the national healthcare strategies and policies can ensure universal access. This has, to date, unfortunately happened only in very few countries globally.

The latest therapeutic advances are many and are focused in many areas of treatment including blood transfusion / blood safety / blood adequacy and appropriate processing, iron metabolism, load, monitoring and chelation. Advances that have led to personalized and tailored to individual needs treatment. In addition, tremendous advances have been made in the understanding of the pathophysiology, of other forms of thalassaemia such as HbE/?, HbH and the iron metabolism. In addition to these, the better understanding of the factors and genetic modifiers that are associated with amelioration of the clinical phenotype of ?- thalassaemia major as well as its response to treatment. Other advances including pharmacostimulation of another type of Hb, the foetal (HbF) with the aim of reducing the ?/? chain imbalance which is the major problem in the pathophysiology of ?- thalassaemia major.

Bone marrow transplantation and of course gene therapy lead the way towards a final cure for thalassaemia and constitute the two curative methods.

In the prevention area, advances have also been made to provide other options to PND and pregnancy terminations such as PGD and diagnosis through maternal blood examination.

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“Thalassaemia patients need to educate themselves in order to be able to claim their civil rights for access to quality healthcare and safe treatment.”

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RA: What research is being undertaken to improve prevention and clinical care in this disease area?

AE: In terms of research there is still a lot going on into further improving the components of blood transfusion, iron chelation and other multi disciplinary areas of the clinical care. The aim of course is to widen the choice of chelators and, as such, achieve a more targeted personalized care system. Furthermore, there are projects underway for the developing of drugs that are focus into raising haemoglobin F and reducing the imbalance of the ? /? chain ratio. In addition, iron monitoring tools and the non-invasive technological advances for prenatal diagnosis are well on the horizon.

RA: What control programmes have you noted that have been successful?

AE: A number of control programmes have been developed but very few have been actually nationally integrated and demonstrated to be successful and those are primarily located in the Southern Mediterranean countries, including Cyprus, Italy, and Greece. Such or similar programmes combined with control strategies for sickle cell disease and antenatal new born screening are been promoted in a number of European countries today. However, there is a huge gap in this space between industrialized countries and the less developed countries including Africa, West Pacific and South East Asia and the Middle East.

RA: How do TIF support national health authorities in their efforts to develop effective national control strategies?

AE: TIF through its huge experience and knowledge, gathered over many years supporting the development of national programmes in Southern Europe, specifically Mediterranean countries, is now in a position to work productively with health authorities and other stakeholders to support the development of effective national control strategies in other countries that are in need. In these efforts involvement and expertise support is provided by TIF’s advisory panel of medical specialists from all over the world.

I must mention that TIF was founded by patient and parents from southern Mediterranean countries, mainly, who were really actively involved and in a pioneering effort at the time in the 1960s / 1970s to build up the components that are necessary for a successful national control programme. As such TIF’s members are extremely knowledgeable and experienced in this kind of support.

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“There is a huge gap, however, in the management of the thalassaemia syndromes in developing countries…”

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RA: What differences do you see in the prevention and management of thalassaemia in developed countries compared with developing countries?

AE: The level and quality of management of thalassaemia and other haemoglobin disorders is extremely heterogeneous across the world. Even within and between countries of the industrialized world including Europe and North America, the challenges and reasons for this heterogeneity vary. In Europe and North America for example, despite the existence of robust healthcare infrastructures and policies for chronic diseases only in recent years have haemoglobin disorders began to gain recognition as a priority public health issue and to date still these are considered as diseases of the immigrant population. In Europe, where successful control programmes have been in place for many years in the Mediterranean countries, where the problem was indigenous, it has taken decades for the national health authorities to start placing this group of diseases on their agendas. The huge gap, however remains in the management and prevention of the thalassaemia syndromes in developing countries, where both are still at the very initial stages in the majority of these and where these disorders are most prevalent in the population at large. The state of affairs with regards to the controlling of these diseases is widely heterogeneous in these regions of the developing world with some countries having developed various components of control programmes to a higher level than others. Nevertheless, with the exception of extremely few countries no national prevention programmes have been developed to date and access to quality of healthcare of patients in these countries is extremely poor and requires considerably more efforts. TIF attempts to distribute and extend information, education, knowledge and experience to these countries to help them base their national programmes on the success of other countries including the southern European countries, at the same time tailoring the programmes to suit their individual needs, capacity and health priorities. It is also of major importance to compile more data, information and knowledge on the other forms of thalassaemia which are more prevalent in these parts of the world. E.g HbE/? and HbH. These have many common issues but also many different ones, in terms of the natural history, progression, pathophysiology and hence their prevention, diagnosis and management require different approaches.

RA: What do you think can be done to “bridge the gap” between industrialized and developing countries?

AE: Bridging the gap between countries is not an easy task or a short process. On the contrary, this is a difficult, challenging, long-term and ongoing task. TIF has focused on a number of activities including delegation visits, educational programmes at the regional, national, and local levels, the development of networks, twining programmes and joint plans of actions in order to promote the implementation of national programmes and to increase awareness. Haemoglobin disorders need to be integrated into programmes (such as NCDs, blood disorders, rare diseases) that receive focus by international and regional official agencies (e.g. WHO, ASEAN etc) in order to facilitate national acceptance and recognition. Other organisations and stakeholders (patients, health professionals, industry etc) need to work together. Above all, the communities of these highly populous regions of the world need to know, and to be informed appropriately because the strongest component in such a fight is the people themselves!

RA: What needs of patients with thalassaemia are currently not being met and how could pharma help with this?

AE: Patients with thalassaemia need to be knowledgeable about their rights as well as their disease and its treatment. They need to be able to know, and to some extent demand, quality treatment and care! Moreover, their education must not stop at knowing the facts – they need to be aware of the dangers as well – the dangers of using unsafe and ineffective drugs, unsafe and inadequate blood etc. They need to be aware and more involved in the clinical trials of new drugs that are not necessarily directly involved in treating the disease itself but important to the medical complications that are associated with the disease and its treatment, for example the case of treating hepatitis C and / or B infection.

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About the interviewee:

Dr Eleftheriou obtained her graduate and postgraduate degrees (BSc Hons, MSc, PhD) from the University of London, in the fields of Biochemistry, Microbiology and Virology, and a Diploma in Business Management from the University of Leicester, UK. She has been awarded a number of scholarships by the Cyprus government, the World Health Organization and the Fulbright Commission. Her postdoctoral fellowship was completed at the Centre for Disease Control in Atlanta, GA, USA. In the past, Dr Eleftheriou has acted as Head of the Virus Reference Centre of the Cyprus Ministry of Health – a centre she was closely involved in establishing – and since 2006 she has been the Executive Director of the Thalassaemia International Federation (TIF). Dr Eleftheriou is the Director of the Cyprus WHO Collaborating Centre, and regularly acts as a WHO consultant on issues related to her field of expertise. She is the author of a number of scientific publications for the lay public on a wide range of scientific topics. Dr Eleftheriou is the Chief Editor of TIF Magazine, issued quarterly and distributed to 2,500 subscribers in more than 40 countries worldwide.

How can we increase community awareness of thalassaemia prevention?