Sickle Cell Disease Global Update Pan American Health

Sickle Cell Disease - Global Update Pan American Health Organization October 3, 2009 Belo Horizonte, Minas Gerais, Brazil Kwaku Ohene-Frempong, M. D. University of Pennsylvania The Children’s Hospital of Pennsylvania

World Map of Epidemiology of Hb Disorders DO YOU KNOW THAT… 300, 000 -500, 000 children are born with Hb disorders annually: • ~80% of affected children are born in developing countries ~ 7% of the global population carries an abnormal Hemoglobin (Hb) gene ~ 3% of all hemoglobinopathyrelated deaths occur in children under 5 years of age • ~70% are born with sickle cell while the rest with thalassaemia disorders • ~50 -80% of children with sickle cell anaemia, and • 50, 000 – 100, 000 children with thalassaemia major die each year in low and middle income countries Source: Dr. ANDROULLA ELEFTHERIOU, TIF EXECUTIVE DIRECTOR, 2008

Sickle Cell Disease Global Sickle Cell Disease in Africa - Annual Births (2009) Total Population Births/1000 Total Births Total SCD Births @ 1% @ 1. 5% @ 2. 0% 999, 000 36 35, 964, 000 359, 640 539, 460 719, 280 Estimates based on data from 2009 Population Reference Bureau

Notes of Dr. Ernest Irons on Patient Noel, Dec 31 st, 1904 International collaboration on First Case published

Sickle Cell Disease Global Polymorphic Sites in -Gene Complex Confirm Multicentric Origins of s Mutation 1. Senegal 2. Benin 3. Bantu 4. Cameroon 5. India/Saudi CAMEROON

Sickle Cell Disease Global WHO Regions Region Headquarters Africa: WHO/AFRO Brazzaville Americas: PAHO Washington DC Eastern Mediterranean: (EMRO) Cairo Europe: WHO/Europe Copenhagen South-East Asia: SEARO New Delhi Western Pacific: WPRO Manila Western Pacific may be only region where SCD does not reach public health proportions in all or some groups

Sickle Cell Disease Global Major Developments in SCD NOT Universally Available Early and definitive diagnosis - Newborn screening Penicillin prophylaxis Regular red cell transfusion service Stroke prevention strategies: TCD, MR Hydroxyurea therapy Hematopoietic stem cell transplantation

Sickle Cell Disease Global Program Objectives? Create a few excellent centers with access limited to few patients or maximize access and availability of services? Concentrate on management and therapeutic approaches unlikely to ever reach most or on those with possible wide application

Sickle Cell Disease Global World Health Organization and SCD

Sickle Cell Disease Global World Health Organization Report to WHA 59

Sickle Cell Disease Global WHO SCD 2006 Report: Recommendations • Model of a national control programme developed in highresource countries is not appropriate for most low-resource settings. • Sickle-cell disorders should be covered by health-service planning in all countries where they are common.

Sickle Cell Disease Global WHO SCD 2006 Report: Recommendations • All components of prevention and treatment should be considered together. • Systematic gathering of information on most costeffective approaches for prevention and treatment should be promoted. • Essential areas of work should cover prevention and counselling, early detection and treatment, surveillance and research, and community education and partnership.

Sickle Cell Disease Global WHO SCD 2006 Report: Recommendations • In areas where sickle-cell anaemia is common, dedicated centers are required in order to ensure adequate services for prevention and treatment. • Ideally, the disease should be identified at birth as part of a screening programme or neonatal diagnosis and affected individuals urged to attend a center periodically for evaluation. • A close working relationship between the primarycare provider and the center is essential for appropriate care.

Sickle Cell Disease Global WHO SCD 2006 Resolution 59. 20

Sickle Cell Disease Global WHO 59 th WHA: SCD 2006 Resolution: Preamble Having examined the report on sickle-cell anaemia; 1. Recalling resolution WHA 57. 13 on genomics and world health, and the discussion of the Executive Board at its 116 th session on control of genetic diseases, which recognized the role of genetic services in improving health globally and in reducing the global health divide; • Recalling decision Assembly/AU/Dec. 81 (V) of the Assembly of the African Union at its Fifth Ordinary Session; • Noting the conclusions of the 4 th International African American Symposium on sickle-cell anaemia (Accra, 26 -28 July 2000), and • the results of the first and second international congresses of the International Organization to Combat Sickle-Cell Anaemia (respectively, Paris, 25 -26 January, 2002 and Cotonou, 20 -23 January 2004); …….

Sickle Cell Disease Global WHO 59 th WHA: SCD 2006 Resolution 59. 20 : 1. URGES Member States having sickle-cell anaemia as a public health problem: (1) to develop, implement and reinforce in a systematic, equitable and effective manner, comprehensive national, integrated programmes for the prevention and management of sickle-cell anaemia, including surveillance, dissemination of information, awarenessraising, counselling and screening, such programmes being tailored to specific socioeconomic, health systems and cultural contexts and aimed at reducing the incidence, morbidity and mortality associated with this genetic disease;

Sickle Cell Disease Global WHO 59 th WHA: SCD 2006 Resolution 59. 20 : REQUESTS the Director-General: (1) to increase awareness of the international community of the global burden of sickle-cell anaemia, and to promote equitable access to health services for prevention and management of the disease; (2) to provide technical support and advice to national programmes of Member States through the framing of policies and strategies for prevention and management of sickle-cell anaemia;

Sickle Cell Disease Global WHO 59 th WHA: SCD 2006 Resolution 59. 20 : (3) to promote and support: (a) intercountry collaboration to develop training and expertise of personnel and to support the further transfer of advanced technologies and expertise to developing countries; (b) the construction and equipment of referral centres for care, training and research;

Sickle Cell Disease Global WHO 59 th WHA: SCD 2006 Resolution 59. 20: (4) to continue WHO’s normative functions in drafting guidelines, including good practices and practical models, on prevention and management of sicklecell anaemia with a view to elaborating regional plans and fostering the establishment of regional groups of experts; (5) to promote, support and coordinate the research needed on sickle-cell disorders in order to improve the duration and quality of life of those affected by such disorders.

Sickle Cell Disease Global WHO Experts Meeting, 2007 The meeting was convened at the request of the WHO’s Human Genetics Programme (HGN) following the WHO Resolutions on May 2006 on Sickle Cell Disease (WHA 59. 20) and Thalassaemia (EB 118. R 1), respectively.

Sickle Cell Disease Global WHO Experts Meeting, 2007

Sickle Cell Disease Global Search: Management of Haemoglobin Disorders WHO-TIF http: //www. who. int/genomics/ WHO-TIF_genetics_final. pdf

Sickle Cell Disease Global WHO Experts Meeting Participants: Experts (1/2) Prof. O. O. Akinyanju Nigeria Dr. Shaikha Al-Arrayed Prof. Amal El-Beshlawy Dr. Marina Boussiou Bahrain Egypt Greece Dr. Silvia Regina Brandalise Dr. Maria Domenica Cappellini Dr. Roshan B. Colah Prof. Suthat Fucharoen Prof. Renzo Galanello Prof. Dora Mbanya Prof. Kwaku Ohene-Frempong Brazil Italy India Thailand Italy Cameroon Ghana / USA

Sickle Cell Disease Global WHO Experts Meeting Participants: Experts (2/2) Dr Antonio Piga Italy Prof. John B. Porter Dr Anuja Premawardhena Prof. Mohamed Cherif-Deen Rahimi United Kingdom Sri Lanka Benin Prof. Graham R Serjeant (Co-Chair) Prof. Ali Taher Dr Leon Tshilolo Prof. Mohsen A. F. El-Hazmi * Prof. Ishwar C. Verma Prof. Elliott Vichinsky* Prof. Sir David Weatherall (Co-Chair) Jamaica Lebanon DR Congo Saudi Arabia India USA UK * Invited but unable to attend

Sickle Cell Disease Global WHO Experts Meeting Participants: Organizations Ms. Edwige Ebakisse-Badassou SCIDIO (OILD, France) Dr. Asa'ah Nkohkwo SC Society, London (UK) Dr. Patricia Aguilar-Martinez ENERCA (France) Dr. Michael Angastiniotis Rhanet Portal (Cyprus) Dr. Willarda Edwards* SCDAA (USA) Prof. Brad Therrell HRSA (USA) Dr. Greg Evans NIH (USA) Mr. Panos Englezos TIF (Cyprus) Dr. Androulla Eleftheriou TIF (Cyprus) Dr. Matheos Demetriades TIF (Cyprus) Dr. Victor Boulyjenkov WHO (Switzerland) Dr. B. H. Sambo* WHO -AFRO Dr. Neelam Dhingra* WHO (Switzerland) * Invited but unable to attend

Sickle Cell Disease Global WHO Experts Meeting: Report The overall consensus of the group was to promote the WHO Resolutions on Sickle Cell Disease and Thalassaemia

Sickle Cell Disease Global WHO Experts Meeting: Recommendations (1/3) • Efforts should be intensified on expanding the database on the epidemiology and available control services. • Implementation and strengthening of programmes, including: i. Community Awareness; ii. Training of Health Professionals; iii. Pilot studies; iv. Research; v. Cost-effectiveness in programme design, and; vi. Strengthening of medical and genetic services in lowand middle-income countries.

Sickle Cell Disease Global WHO Experts Meeting: Recommendations (2/3) • Creation of Regional Expert Advisory Groups under WHO umbrella • Funds should be secured for the development and initiation of services for care, and successful implementation of control programmes • Efforts should focus on the identification and the promotion of affordable interventions.

Sickle Cell Disease Global WHO Experts Meeting: Recommendations (3/3) • Endorsed the idea of a ‘World Haemoglobinopathy Day’ during which activities for raising public awareness • Involving other potential stakeholders, such as patients/parents organizations and other national and international health related agencies • A 5 -year plan of action for achieving the above goals • Establishment of an International SCD Federation

Sickle Cell Disease Global WHO Experts Meeting, Cyprus, Nov. 2007 Report of Sickle Cell Disease Group Patient Ascertainment and Early Diagnosis • Importance of early diagnosis of sickle cell disease. • Best achieved by newborn screening, associated with • comprehensive care including close follow-up • appropriate immunization • parental education, and, • documentation of disease problems. • Children missing newborn diagnosis should be diagnosed as part of a minimal care package for Primary Care Centres.

Sickle Cell Disease Global WHO Experts Meeting, Cyprus, Nov. 2007 Report of Sickle Cell Disease Group Role of Treatment Centres • Treatment Centres for • establishment of treatment protocols • training of health care personnel and lab technicians, • development of educational programmes • Centres should be networked for referral purposes and equitable access of patients.

Sickle Cell Disease Global WHO Experts Meeting, Cyprus, Nov. 2007 Report of Sickle Cell Disease Group Role of Referral Centres • • Special Referral Centres be developed according to local conditions at least one in each territory provide clinical services necessary for the establishment of effective training programs, and provide detailed documentation of clinical course.

Sickle Cell Disease Global WHO Experts Meeting, Cyprus, Nov. 2007 Report of Sickle Cell Disease Group Community Awareness (1) • Increase community knowledge and awareness through • use of sickle cell disease as a model of genetic disease for schools, • use of mass media, community based organisations and sickle cell support groups to disseminate information

Sickle Cell Disease Global WHO Experts Meeting, Cyprus, Nov. 2007 Report of Sickle Cell Disease Group Community Awareness (2) • Seek expert advice on production of educational materials to ensure uniformity and quality • use services of UNESCO and Government Health Education Units and other experts.

WHO Experts Meeting, Cyprus, Nov. 2007 Report of Sickle Cell Disease Group Community Awareness (3) Establishment of World Sickle Cell Day June 19 th Inaugural Observance 2009 United Nations, New York

Sickle Cell Disease Global WHO Experts Meeting, Cyprus, Nov. 2007 Report of Sickle Cell Disease Group International Advocacy Establish International Sickle Cell Federation

Sickle Cell Disease Global WHO Experts Meeting, Cyprus, Nov. 2007 Report of Sickle Cell Disease Group Fund Raising • Partner with WHO to develop strategies for fundraising starting with a business plan that includes • clear endpoints, • benefit to the patient population, and • self-sustainability.

Sickle Cell Disease A Global Problem Seeking Global Solutions