Defining global strategies to improve outcomes in sickle cell disease: a Lancet Haematology Commission

Abstract

All over the world, people with sickle cell disease (an inherited condition) have premature deaths and preventable severe chronic complications, which considerably affect their quality of life, career progression, and financial status. In addition, these people are often affected by stigmatisation or structural racism, which can contribute to stress and poor mental health. Inequalities affecting people with sickle cell disease are also reflected in the distribution of the disease—mainly in sub-Saharan Africa, India, and the Caribbean—whereas interventions, clinical trials, and funding are mostly available in North America, Europe, and the Middle East. Although some of these characteristics also affect people with other genetic diseases, the fate of people with sickle cell disease seems to be particularly unfair. Simple, effective interventions to reduce the mortality and morbidity associated with sickle cell disease are available. The main obstacle preventing better outcomes in this condition, which is a neglected disease, is associated with inequalities impacting the patient populations. The aim of this Commission is to highlight the problems associated with sickle cell disease and to identify achievable goals to improve outcomes both in the short and long term.

The ambition for the management of people with sickle cell disease is that curative treatments become available to every person with the condition. Although this would have seemed unrealistic a decade ago, developments in gene therapy make this potentially achievable, albeit in the distant future. Until these curative technologies are fully developed and become widely available, health-care professionals (with the support of policy makers, funders, etc) should make sure that a minimum standard of care (including screening, prophylaxis against infection, acute medical care, safe blood transfusion, and hydroxyurea) is available to all patients.

In considering what needs to be achieved to reduce the global burden of sickle cell disease and improve the quality of life of patients, this Commission focuses on five key areas: the epidemiology of sickle cell disease (Section 1); screening and prevention (Section 2); established and emerging treatments for the management of the disease (Section 3); cellular therapies with curative potential (Section 4); and training and education needs (Section 5). As clinicians, researchers, and patients, our objective to reduce the global burden of sickle cell disease aligns with wider public health aims to reduce inequalities, improve health for all, and develop personalised treatment options. We have observed in the past few years some long-awaited momentum following the development of innovative point-of-care testing devices, new approved drugs, and emerging curative options. Reducing the burden of sickle cell disease will require substantial financial and political commitment, but it will impact the lives of millions of patients and families worldwide and the lessons learned in achieving this goal would unarguably benefit society as a whole.

Figure 1:. Level of newborn screening programmes in each country

Overview of newborn screening programmes for sickle cell disease across countries, based on the following categories: national—a newborn screening programme, either universal or targeted, is in place across the entire country, can be the result of progressive implementation over years in various parts of the country (eg, the USA); regional—there is no national-level programme, but specific parts of the country (eg, provinces) have an ongoing newborn screening programme in place; pilot—there is no national or regional newborn screening programme, but there are either ongoing local newborn screening efforts (eg, Kumasi, Ghana) or one-off pilot studies to support wider programmes; none—we could not find any evidence of any newborn screening programme in these countries; no data—we did not find any information for these countries. References used to compile the data presented are listed in the appendix (pp 7–9).

Figure 2:. Global distribution of sickle cell anaemia in 2023, illustrated by country-level annual births with sickle cell anaemia

The estimates are derived from median HbS allele frequencies published in Piel and colleagues and probabilistic birth projections by country for 2023 from the UN World Population Prospects 2022.

Figure 3:. The network of services associated with newborn screening and the related links between the five core sections of this Commission

Epidemiology is in orange, screening in blue, management in green, and training and education in grey.