Sickle cell disease: time to act on the most neglected global health problem.

Despite being the first monogenic disease described in scientific literature over a century ago, sickle cell disease remains an illness with high morbidity and early mortality, particularly in sub-Saharan Africa and other low-income and middle-income countries (LMICs) in historically malaria-endemic regions of the world. 1 Piel FB Steinberg MH Rees DC Sickle cell disease. N Engl J Med. 2017; 376: 1561-1573 Crossref PubMed Scopus (664) Google Scholar Sickle cell disease is a chronic and progressive condition associated with frequent painful, vaso-occlusive episodes, multiple end-organ complications, and detrimental effects on the psychosocial wellbeing of those affected, their families, and communities. Significant advances in the care of individuals with sickle cell disease over the past several decades, including newborn screening (NBS), penicillin prophylaxis, expanded immunisation programmes, and hydroxyurea therapy, have substantially reduced mortality among children and adolescents living in higher income countries. 2 Quinn CT Rogers ZR McCavit TL Buchanan GR Improved survival of children and adolescents with sickle cell disease. Blood. 2010; 115: 3447-3452 Crossref PubMed Scopus (637) Google Scholar , 3 Telfer P Coen P Chakravorty S et al. Clinical outcomes in children with sickle cell disease living in England: a neonatal cohort in East London. Haematologica. 2007; 92: 905-912 Crossref PubMed Scopus (243) Google Scholar Unfortunately, premature mortality from sickle cell disease during early childhood persists in LMICs, 4 Makani J Cox SE Soka D et al. Mortality in sickle cell anemia in Africa: a prospective cohort study in Tanzania. PLoS One. 2011; 6e14699 Crossref PubMed Scopus (195) Google Scholar where a majority of the global sickle cell disease burden is found. The clinical framework in LMICs is decades behind that of higher income countries, with most affected infants dying in the first years of life due to scarce access to an early diagnosis and available prophylactic or disease-modifying interventions. Despite multiple statements and calls to action from WHO to recognise and address the global burden of sickle cell disease, 5 WHO Regional Committee for AfricaSickle-cell disease: a strategy for the WHO African Region. World Health Organization, Geneva2010 Google Scholar there remains a crucial paucity of data in individual countries or across the highest burdened regions of the world to accurately quantify this problem and drive resource allocation to improve the diagnosis, management, and awareness of sickle cell disease. Global, regional, and national prevalence and mortality burden of sickle cell disease, 2000–2021: a systematic analysis from the Global Burden of Disease Study 2021Our findings show a strikingly high contribution of sickle cell disease to all-cause mortality that is not apparent when each death is assigned to only a single cause. Sickle cell disease mortality burden is highest in children, especially in countries with the greatest under-5 mortality rates. Without comprehensive strategies to address morbidity and mortality associated with sickle cell disease, attainment of SDG 3.1, 3.2, and 3.4 is uncertain. Widespread data gaps and correspondingly high uncertainty in the estimates highlight the urgent need for routine and sustained surveillance efforts, further research to assess the contribution of conditions associated with sickle cell disease, and widespread deployment of evidence-based prevention and treatment for those with sickle cell disease. Full-Text PDF Open Access