番茄社区

Improved sickle cell disease outcomes are possible if governments and health authorities across the globe take action, according to a new report from .

The expert panel released 12 key recommendations to improve care, calling for greater attention on epidemiology, screening and prevention, established and emerging treatments for disease management, cellular therapies with curative potential, and training and education needs, reported Frédéric Piel, MD, of Imperial College London, and colleagues.

"[T]hese represent the most important priorities for sickle cell disease over the next 20-30 years," U.S.-based Commission members Russell Ware, MD, PhD, of Cincinnati Children's Hospital in Ohio, and Alexis Thompson, MD, MPH, of Children's Hospital of Philadelphia, told 番茄社区 via email.

"All 12 recommendations are critically important to address, in order to advance the care and management of individuals with sickle cell disease around the world," Ware and Thompson said.

They mentioned that the Commission is unique in being the "first truly global consortium of sickle cell experts who have reached consensus on a comprehensive set of recommendations."

"Past initiatives for sickle cell disease have had limited success, but there has been steady progress with landmark research studies and standardized guidelines for care and treatment of individuals with sickle cell disease" they said.

"Timing is crucial, and we now have better epidemiology and screening results from around the world, plus a variety of new therapies that are available currently and in the near future, and an overall better awareness of the immense global burden of disease," Ware and Thompson added.

Reducing Global Mortality

One of the recommendations highlighted the goal of cutting the global disease burden in half by 2050, which will require united action from the World Health Organization (WHO), global governments, health authorities, pharmaceutical companies, health organizations, researchers, and more.

This comes on the heels of led by Nicholas Kassebaum, MD, of the Institute for Health Metrics and Evaluation in Seattle, also published in The Lancet Haematology, that found the global sickle cell disease mortality burden was nearly 11-fold higher than previously thought. The systematic analysis also found the number of people living with the disease grew by 41.4% from 2000 to 2021 -- representing a jump from 5.46 million to 7.74 million cases.

The experts said access to the minimum health care necessary for the disease must be available to all afflicted individuals, regardless of location.

The Commissioners pointed out that patient outcomes "vary enormously depending on geography and socioeconomic status," and a vast majority of sickle cell disease cases occur in low- and middle-income countries, particularly sub-Saharan Africa, India, and the Caribbean. To address these disparities in access, the expert panel called for "dedicated funding" into sickle cell disease research, with more balanced clinical trial participation across low-middle-and high income countries, requiring cooperation from researchers, research funders, pharmaceutical companies, and drug licensing bodies.

In addition, the Commissioners noted that the countries most affected by the condition lacked adequate and consistent funding for prevention and screening efforts, with newborn screening policies particularly underrepresented in these areas. As a result, they urged that all babies across the world be tested by 2025.

The report noted that healthcare providers do not receive adequate professional education on the condition, particularly in lower income countries, with minimal global funding being spent on training. The Commissioners called on global governments, health authorities, and health-focused organizations to spread awareness and educate both healthcare providers and the general public.

They also called for the acceleration of "the development of effective and affordable curative therapies" by 2040. They also urged governments, health authorities, and pharmaceutical companies to make hydroxyurea more widely accessible and affordable -- with a goal of less than $0.1 per 500 mg capsule -- and to improve the supply and safety of blood transfusions by 2030, including a call for new hemovigilance guidelines.

One prominent issue identified in the report was the lack of standardized data on the condition, with the expert panel recommending that all countries should "enable routine collection of comparable epidemiological data across all countries" by 2025. National public health interventions should also be monitored to hold governments accountable for their progress in tackling the disease.

Sickle cell disease patients should also be informed of the "reproductive risks and choices" they have with the inherited condition.

Ware and Thompson added that while the Commission's report was globally-focused, "discussion of reproductive risks and choices, development of affordable new therapies, educating healthcare professionals and the public about sickle cell disease, and prioritizing research for sickle cell disease, are all highly relevant for U.S. patients and providers."

Social Determinants of Health

It's important to consider this guidance "within a sociocultural context," said authors Jerlym Porter, PhD, MPH, of St. Jude Children's Research Hospital in Memphis, Tennessee, and colleagues.

"In the USA, sickle cell disease affects approximately 100,000 individuals, primarily of African descent," Porter's group explained. "Consequently, due to historical systemic and structural racism, discrimination, and disparities, individuals living with sickle cell disease are a socially and economically disadvantaged population with poor health outcomes."

Porter and co-authors added that a "scoping review of social determinants of health in sickle cell disease found that poor access to health care, stigma and discrimination, low educational attainment, and economic stability are all associated with poor medical outcomes."

"Social determinants of health should not be treated as fixed traits of the patient and their broader environment," they said. "As a clinical and research community, a new mindset that social care is medical care will be crucial in the next frontier for improving the quality of life of patients with sickle cell disease."