sickle cell disease - global update pan american health organization october 3, 2009 belo horizonte,...

Sickle Cell Disease-

Global Update

Pan American Health OrganizationOctober 3, 2009

Belo Horizonte, Minas Gerais, Brazil

Kwaku Ohene-Frempong, M.D.

University of PennsylvaniaThe Children’s Hospital of Pennsylvania

World Map of Epidemiology of Hb Disorders

~ 7% of the global population carries an abnormal Hemoglobin (Hb) gene

~ 3% of all hemoglobinopathy-related deaths occur in children under 5 years of age

DO YOU KNOW THAT…

300,000 -500,000 children are born with Hb disorders annually:

• ~80% of affected children are born in developing countries

• ~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

Total Population 999,000,000

Births/1000 36

Total Births 35,964,000

Total SCD Births @ 1% 359,640

@ 1.5% 539,460

@ 2.0% 719,280

Sickle Cell Disease in Africa- Annual Births (2009)

Estimates based on data from 2009 Population Reference Bureau

Sickle Cell Disease Global

Notes of Dr. Ernest Irons on Patient Noel, Dec 31st, 1904

International collaboration on First Case published

1. Senegal

2. Benin

3. Bantu

4. Cameroon

5. India/Saudi

Polymorphic Sites in -Gene Complex ConfirmMulticentric Origins of s Mutation

CAMEROON


WHO RegionsRegion 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

Major Developments in SCD NOT Universally Available

Penicillin prophylaxis

Stroke prevention strategies: TCD, MR

Hematopoietic stem cell transplantation

Regular red cell transfusion service

Early and definitive diagnosis - Newborn screening


Hydroxyurea therapy

Global Program Objectives?

Concentrate on management and therapeutic approaches unlikely to ever reach most or on those with possible wide application

Create a few excellent centers with access limited to few patients or maximize access and availability of services?


World Health Organization and SCD


World Health Organization Report to WHA 59


WHO SCD 2006 Report: Recommendations

• Model of a national control programme developed in high-resource 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.



• All components of prevention and treatment should be considered together.

• Systematic gathering of information on most cost-effective 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.




• 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 primary-care provider and the center is essential for appropriate care.


WHO SCD 2006 Resolution 59.20


WHO 59th WHA: SCD 2006 Resolution: PreambleHaving examined the report on sickle-cell anaemia;1. Recalling resolution WHA57.13 on genomics and world health, and the

discussion of the Executive Board at its 116th session on control of genetic diseases, which recognized the role of genetic services in improving health globally and in reducing the global health divide;

2. Recalling decision Assembly/AU/Dec.81 (V) of the Assembly of the African Union at its Fifth Ordinary Session;

3. Noting the conclusions of the 4th International African American Symposium on sickle-cell anaemia (Accra, 26-28 July 2000), and

4. 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); …….


WHO 59th 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, awareness-raising, 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;



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;



(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;


WHO 59th 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 sickle-cell 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.


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 (WHA59.20) and Thalassaemia (EB118.R1), respectively.


WHO Experts Meeting, 2007


http://www.who.int/genomics/WHO-TIF_genetics_final.pdf

Search:Management of Haemoglobin Disorders WHO-TIF


Prof. O. O. Akinyanju Nigeria

Dr. Shaikha Al-Arrayed Bahrain

Prof. Amal El-Beshlawy Egypt

Dr. Marina Boussiou Greece

Dr. Silvia Regina Brandalise Brazil

Dr. Maria Domenica Cappellini Italy

Dr. Roshan B. Colah India

Prof. Suthat Fucharoen Thailand

Prof. Renzo Galanello Italy

Prof. Dora Mbanya Cameroon

Prof. Kwaku Ohene-Frempong Ghana / USA

WHO Experts Meeting Participants: Experts (1/2)


Dr Antonio Piga Italy

Prof. John B. Porter United Kingdom

Dr Anuja Premawardhena Sri Lanka

Prof. Mohamed Cherif-Deen Rahimi Benin

Prof. Graham R Serjeant (Co-Chair) Jamaica

Prof. Ali Taher Lebanon

Dr Leon Tshilolo DR Congo

Prof. Mohsen A. F. El-Hazmi * Saudi Arabia

Prof. Ishwar C. Verma India

Prof. Elliott Vichinsky* USA

Prof. Sir David Weatherall (Co-Chair) UK* Invited but unable to attend

WHO Experts Meeting Participants: Experts (2/2)


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

WHO Experts Meeting Participants: OrganizationsSickle 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


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 low-

and middle-income countries.


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.


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


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.

WHO Experts Meeting, Cyprus, Nov. 2007


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.




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.




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





• 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.





Establishment of

World Sickle Cell Day



June 19thInaugural Observance 2009United Nations, New York

International Advocacy

Establish

International Sickle Cell Federation




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

sickle cell disease - global update pan american health organization october 3, 2009 belo horizonte,...

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