Screening infants for sickle cell disease in sub-Saharan Africa: starting the journey to a sustainable model in primary care
Authors: Allison Streetly
Journal: The Lancet Haematology (2020)

In the WHO African region, an estimated 5% of deaths in children younger than 5 years result from sickle cell disease, and up to 16% of deaths in some west African countries.1World Health OrganizationFifty-ninth World Health Assembly: sickle-cell anaemia.http://apps.who.int/gb/archive/pdf_files/wha59/a59_9-en.pdfDate: April 24, 2006Date accessed: May 13, 2020Google Scholar The UN recognised sickle cell disease as a public health priority in 2009.2UN General AssemblyRecognition of sickle-cell anaemia as a public health problem: draft resolution (A/RES/63/237).https://digitallibrary.un.org/record/644129?ln=enDate: Dec 18, 2008Date accessed: May 20, 2020Google Scholar Haemoglobin disorders remain neglected in terms of global support and resourcing, in view of their increasing contribution to the global disease burden.3Cameron H Why has sickle cell disease been neglected by the global public health community?. London School of Hygiene & Tropical Medicine, London2019Google Scholar Sickle cell disease in Africa is increasingly visible, with more affected infants surviving to later childhood after roll-out of Haemophilus influenzae and pneumococcal vaccinations. Increased survival of affected infants in African populations, where the birth prevalence of sickle cell disease can range from 0·5% to 2%, is leading to more affected children reaching older ages. Epidemiologists have shown that an infant mortality rate of 50 per 1000 livebirths, which is achieved in an increasing number of African countries, is the point at which inherited and congenital conditions become increasingly visible.4Modell B Darlison M Global epidemiology of haemoglobin disorders and derived service indicators.Bull World Health Organ. 2008; 86: 480-487Crossref PubMed Scopus (1093) Google Scholar These conditions mainly affect children, but sickle cell disease will increasingly become a long-term condition in adults in Africa too. Population screening programmes for sickle cell disease are effective in the USA, Europe, and Brazil.5Sabarense AP Lima GO Silva LM Viana MB Survival of children with sickle cell disease in the comprehensive newborn screening programme in Minas Gerais, Brazil.Paediatr Int Child Health. 2015; 35: 329-332Crossref PubMed Google Scholar In Africa, moving from small pilot studies, typically in large urban centres linked to specialised hospitals,6Nkya S Mtei L Soka D et al.Newborn screening for sickle cell disease: an innovative pilot program to improve child survival in Dar es Salaam, Tanzania.Int Health. 2019; 11: 589-595Crossref PubMed Scopus (23) Google Scholar to whole population national screening programmes has proved difficult. Identifying ways to introduce newborn screening alongside sustainable and scalable care pathways for affected infants is key to converting evidence into action. Ghana has led the way on developing a network of care for sickle cell disease across the country, and securing hydroxycarbamide for all children, but whole population screening has been slow to develop. In The Lancet Haematology, Obiageli Nnodu and colleagues7Nnodu OE Sopekan A Nnebe-Agumadu U et al.Implementing newborn screening for sickle cell disease as part of immunisation programmes in Nigeria: a feasibility study.Lancet Haematol. 2020; 7: e534-e540Summary Full Text Full Text PDF PubMed Scopus (21) Google Scholar make a useful contribution on a possible scalable model for screening that could offer population coverage and access to care in rural and urban African settings. Nnodu and colleagues show that point-of-care testing is as sensitive and specific as the gold standard laboratory method, high performance liquid chromatography, in this setting. Validation of two point-of-care test devices against existing high-performing specialist laboratory methods is excellent and an important step, recognising that minimising costs of tests is also key. Perhaps most importantly for the sustainability of such initiatives, Nnodu and colleagues show the feasibility of including the testing process into existing immunisation programmes,7Nnodu OE Sopekan A Nnebe-Agumadu U et al.Implementing newborn screening for sickle cell disease as part of immunisation programmes in Nigeria: a feasibility study.Lancet Haematol. 2020; 7: e534-e540Summary Full Text Full Text PDF PubMed Scopus (21) Google Scholar which already have high uptake. This is a welcome start to developing the idea of a system-wide approach to embedding screening for sickle cell disease into existing care pathways.8Gray M Raffle A Screening: evidence and practice. Oxford University Press, Oxford2007Google Scholar Integration within existing systems is important with limited resources, to enable scaling up of programmes and for sustainability, and it fits with government priorities focused on primary care for all. Other elements of a whole system are also important, including a population register and widespread education of both the public and professionals to address the understanding and stigma attached to this genetic condition, leading to parents' denial of the condition.6Nkya S Mtei L Soka D et al.Newborn screening for sickle cell disease: an innovative pilot program to improve child survival in Dar es Salaam, Tanzania.Int Health. 2019; 11: 589-595Crossref PubMed Scopus (23) Google Scholar, 7Nnodu OE Sopekan A Nnebe-Agumadu U et al.Implementing newborn screening for sickle cell disease as part of immunisation programmes in Nigeria: a feasibility study.Lancet Haematol. 2020; 7: e534-e540Summary Full Text Full Text PDF PubMed Scopus (21) Google Scholar An effective and sustainable electronic population health record is also key to sustainability. Developments in immunisation and care information technology platforms, such as the BID Initiative in Tanzania and Zambia (funded by the Seattle-based PATH programme), could provide a national record system for all newborn babies and their mothers and be joined with other programmes, bypassing the multiple record systems in place in many highly resourced countries. A joined-up and easily accessible health record is important for completeness and timeliness of testing and follow-up of affected infants. Nnodu and colleagues report that, of 55 babies and infants younger than 9 months identified with sickle cell disease, 41 (75%) affected infants were enrolled into a care programme for free folic acid and penicillin, 36 (65%) were followed up for 9 months, and 29 (53%) agreed to continue to attend specialist care within the paediatric sickle cell programme of the teaching hospital. Primary care is likely to be the most realistic way to achieve large-scale access to care, although substantial education and training of frontline staff will be needed. Additionally, the stigma attached to this genetic condition highlights the importance of public messaging to support acceptance of the condition. Moving forward requires clinicians and scientists working in this field to recognise that achieving sustainable, scalable, and impactful regional and national programmes in the African context will need us to draw on experience, expertise, and skills from a wide range of players, particularly of those who have delivered whole-population programmes, built wide consensus, and leveraged large-scale economies of scale for testing. Finally, since the arrival of an increased migrant population in Europe from Africa, development of consensus and wider collaboration on the approach to introduction of effective newborn screening for sickle cell disease in Europe is a model that can support the emerging African vision of collaboration for service development as distinct from western-led research collaborations.9Lobitz S Telfer P Cela E et al.Newborn screening for sickle cell disease in Europe: recommendations from a Pan-European Consensus Conference.Br J Haematol. 2018; 183: 648-660Crossref PubMed Scopus (62) Google Scholar, 10Therell Jr, BL Lloyd-Puryear MA Ohene-Frempong K et al.Empowering newborn screening programs in African countries through establishment of an international collaborative effort.J Community Genet. 2020; (published online May 15.)DOI:10.1007/s12687-020-00463-7Crossref Scopus (13) Google Scholar AS declares no competing interests. Implementing newborn screening for sickle cell disease as part of immunisation programmes in Nigeria: a feasibility studyOur pilot study shows that the integration of newborn screening into existing primary health-care immunisation programmes is feasible and can rapidly be implemented with limited resources. Point-of-care tests are reliable and accurate in newborn screening for sickle cell disease. This feasibility study bodes well for the care of patients with sickle cell disease in resource-poor countries. Full-Text PDF Open Access