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THALASSAEMIA AND REALITIES

THALASSAEMIA AND REALITIES. Dr Androulla Eleftheriou Executive Director, Thalassaemia International Federation Brussels, 26 September 2019. TABLE OF CONTENTS. Haemoglobinopathies : A global public health issue Focus on Europe

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THALASSAEMIA AND REALITIES

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  1. THALASSAEMIA AND REALITIES Dr Androulla Eleftheriou Executive Director, Thalassaemia International Federation Brussels, 26 September 2019

  2. TABLE OF CONTENTS Haemoglobinopathies: A global public health issue Focus on Europe Thalassaemia: A genetic hereditary disorder of the haemoglobin Improved survival rates Blood Transfusion is key to survival Challenges in many of the developing “affected” countries Challenges in Europe – The TIF’s perspective The TIF’s Perspective

  3. Haemoglobinopathies: A global public health issue • c. 7% of the global population are carriers of an abnormal Haemoglobin (Hb) gene • 80% of annual affected births take place in developing countries and 20% in the Western World. • Published data suggests more than 300,000 people living with beta thalassaemia worldwide • The magnitude of morbidity and mortality are related to the presence or absence of national programmes (in the context of HCs - Public Health) of: • Prevention • Clinical management (and other care) • Considering: • Absence of registries and data from updated / upgraded and new epidemiological studies in still large populations • TIF’s data from 52 countries worldwide (6 WHO regions) Great underestimation becoming gross considering the NTDT syndromes (HbH, HbE, HbC or combined forms) which remained for long in the dark as clinically non significant conditions.

  4. Haemoglobinopathies: A global public health issue Thailand India Pakistan China Vietnam Cambodia 1200?? Large populations/High carrier rates ??? Large populations/High carrier rates Approx. 5000 births per year Approx. 2000 births per year WORLD Approx. 20000 births per year

  5. Haemoglobinopathies: A global public health issue Haemoglobin disorders present a growing health problem in 71% of 229 countries - that account for 89% of all the births worldwide Haemoglobin Disorders are a Group of the Most common Birth Defects in the World 7.9 million children born with birth defects per year The top 5 common disorders account for 25% of all birth defects Haemoglobinopathy is among the top three common birth defects Source: World Health Data, WHO 2013

  6. Focus on Europe • From published data (absence of registries): • c. 26,000 people with beta • thalassaemia major (17 countries) • c. 53,000 people with sickle cell disease (16 countries) • UNKNOWN number of NTDT patients

  7. MEDICAL COMPLICATIONS Thalassaemia: A GENETIC HEREDITARY disorder of the HAEMOGLOBIN Cornerstone of treatment Lifelong transfusion of red blood cells Iron chelation therapy Multidisciplinary care (heart, liver, endocrine)

  8. Improved survival rates Age Distribution Patient Survival Source: Voskaridou E et al, 2018 Age Distribution

  9. Blood Transfusion is key to survival • Blood is needed to keep Hb levels adequate to: • combat severe anaemias • supress bone marrow hyperactivity • prevent organomegaly • establish normal growth and physical activity • Hence, needs are: • Quality screening • Extended red blood cells phenotypes • Filtration • Appropriate storage environment and transport conditions • Provision of “fresh” red blood cells (less than 14 days old) • To achieve the above prerequisites to survival: • Enough/sufficient quantities of blood/ red blood cells to raise the Hb (to levels based on international standards) • Transmission of pathogens • Immune and non-immune related adverse reactions Age Distribution

  10. Challenges in many of the developing “affected” countries • Shortage of blood and/or • Weak voluntary NRBD policies and/or • Weak infrastructure for transfusion services and public health • Limited access to filtration • Weak to poor quality assured screening labs • Limited RBC antigen phenotype services • Poor to non-existent haemovigilance programmes • Weak or no national prevention programmes Healthcare systems with a major out-of-pocket component Patient and family economic catastrophy Increasing number of annual affected births & high rates of morbidity and mortality Age Distribution

  11. Challenges in Europe – The TIF’s perspective • Haemoglobin disorders do not constitute a priority on the national health agendas hence patients in many instances report being deprived of social and other care, related to quality of life, and/or • Absence in nearly all EU countries of national prevention programmes, and/or • Lack of coordination and development of multidisciplinary care and services and/or • Absence of reference centres and national European and international networking (currently EuroBloodNet & European reference centres in development) • Mediterranean countries (Cyprus, Greece & Italy) • early recognition and accumulation of knowledge and experience with successful control programmes • UK and France • historic migrant host countries) • Limited experience and knowledge of haematologists on the control and management of haemoglobin disorders (to a lesser extent from Paediatricians), and/or • Patients in many countries are literally sub-optimally treated, incl. under-transfusion with all the negative sequelae of the genetic dysfunction, and/or Age Distribution

  12. Challenges in Europe – The TIF’s perspective Public health and blood transfusion therapy services (despite robust infrastructures in place) face threats: Increasing needs of blood supplies on account of: New affected births from indigenous population (early migrants integrated into indigenous population) New births from immigrant population (recent migration flows) Increase of alloimmunisationreactions resulting from diverse ethnic backgrounds and challenges in blood group phenotyping Increased supplies of blood on account of ageing of the thalassaemia major patients Increased use of blood transfusion therapy in NTDTs cases (as well as SCD) based on recent expert recommendations Potentially revisiting the earlier than the one recommended in current Guidelines onset of transfusion therapy Increasing costs in blood transfusion Updating and upgrading services to address the increasing numbers (e.g. Universal filtration) Introducing methodologies e.g. NAT testing and molecular phenotyping for improving to the maximum the safety Importantly the human resources of blood which are the voluntary blood donors. Strategies need to be upgraded and revisited. Age Distribution

  13. The TIF’s Perspective What do patients say? “We need new advances that would untie our lives and our hands from long hours of lifelong blood transfusion.” “Blood transfusion could be a bless but could be a curse for us and each time we feel the uncertainty and fear of its outcome.” “Transfusion therapy is disturbing our social and professional lives” What do public health stakeholders say? “We need more blood for a lot more medical disciplines today.” “We need to reduce costs related to safety and efficacy of transfusion therapy of complicated, multi-organ without jeopardising their health and quality of life.” What does TIF say? Research and new advances will hopefully give us the answers! Age Distribution

  14. THANK YOU Dr Androulla Eleftheriou Executive Director, Thalassaemia International Federation thalassaemia@cytanet.com.cy

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