Sickle Cell: A Call for Comprehensive Care

Sophia Lerebours

Introduction

Sickle cell disease (SCD) is a hereditary red blood cell disease that affects millions of people worldwide.¹ The rigid, crescent-shaped blood cells that characterize the disease are prone to get stuck, resulting in blocked blood flow and tissue damage. SCD is commonly found in places near the equator such as Nigeria, India, and the Democratic Republic of Congo because the altered red blood cell shape protects against malaria.² While the disease is prevalent globally, SCD is categorized as an “orphan disease” in the United States, meaning that fewer than 200,000 Americans are afflicted with sickle cell disease.^3,4

While it is expected that an uncommon disease does not receive as much research and funding as more common afflictions such as lung cancer, sickle cell disease is underfunded as compared to other orphan diseases such as cystic fibrosis (CF) and hemophilia. Both CF and hemophilia have smaller patient populations than SCD, but the diseases receive more funding for research and treatment centers. A 2020 study found that federal funding was greater per person with CF than with sickle cell, corresponding to more research articles and FDA drug approvals.⁵ Hemophilia receives more funding than SCD despite also having a lower rate of incidence (2.3 cases per 10,000 male births versus 4.9 cases per 10,0000 births).⁶

This is a manifestation of systemic racism: rare diseases with a predominantly white population receive more resources and infrastructural support than a less rare disease with a predominantly black population. While CF and hemophilia both have high patient surveillance, the CDC page about SCD remains full of carefully calculated estimates because of a lack of data.⁷ The fact that SCD affects millions globally should be enough justification for more extensive research, but a disease that lacks popularity in the global north lacks funding and research.

Through the examination of the management of other orphan diseases in the United States, I make a case that sickle cell disease research and treatment would benefit greatly from more comprehensive care with the implementation of a national registry and multidisciplinary disease-specific centers.

National Registry

CF treatment and research has greatly benefited from the Cystic Fibrosis Foundation Patient Registry, a tool that has been in existence since 1995.⁸ The data from the registry was used to establish a more effective regimen while also allowing for the comparison of the quality of care across different treatment centers. An analysis of treatment during infancy found that better outcomes are associated with more frequent monitoring visits, more aggressive antibiotic use, and more airway cultures.⁹ The CF Foundation data has also been studied to examine how various risk factors and socioeconomic determinants of health affect CF outcomes.⁸ These benefits have shaped CF treatment, improving both the life expectancy and quality of life of patients with CF.

The Centers for Disease Control (CDC) has supported sickle cell data collection, however, it has not been a nationwide initiative. There were previous two surveillance efforts: the Registry and Surveillance System for Hemoglobinopathies (RuSH) and the Public Health, Research, Epidemiology, and Surveillance for Hemoglobinopathies (PHRESH).¹⁰ The former was active from 2010 to 2012 with seven participating states, and the latter was active from 2012 to 2014 with only one additional state trying to identify and collect information about state residents with SCD. The current initiative in place, Sickle Cell Data Collection Program, has engaged nine states since 2019 thanks to additional funding from the Sickle Cell Disease and Other Heritable Blood Disorders Research, Surveillance, Prevention, and Treatment Act.¹¹

Over the span of around ten years, data collection was undertaken by nine states, equal to less than one-fifth of the United States. While this is a commendable initiative, it is imperative to expand the scope of surveillance activities significantly. The CDC does not even know how many Americans have SCD, relying on estimations based on newborn screenings and life expectancy to claim SCD affects more than 100,000 people.⁷ It is high time for a thorough database containing information about various treatment options and metrics of health.

Comprehensive Care Centers

Both CF and hemophilia have disease-specific treatment centers with an array of resources necessary to provide disease specific-care. There are over 100 CF care centers in the US that receive accreditation and funding from the CF Foundation.⁹ Accreditation sets a minimum level of care for CF patients, a standard of care based on extensive research. Quarterly visits and annual testing to monitor the disease are the norms set by the foundation.

In the US, there is a network of hospital-based hemophilia diagnostic and treatment centers (HTCs), many of which receive federal funding.⁹ This network has been around for decades, treating those with hemophilia and other bleeding disorders. HTCs, like CF centers, function as a sort of “one-stop shop,” providing access to a team of physicians, nurses, physical therapists, and maybe even dentists who are highly experienced in caring for people with bleeding disorders. HTCs have resulted in a decrease in hospitalizations for those with hemophilia.⁹

Patients with SCD typically rely on their primary care physician as their main point of care with referrals to specialists as needed. In the United States, patients with SCD may often visit the emergency room due to the disease, with about 250,000 ED visits and 90,000 hospitalizations reported in 2014.¹² High readmission rates make it clear that this costly management of SCD is not optimal.

A comprehensive SCD care initiative known as the Sickle Care coordination OutReach and Education (SCORE) program was established in Lake County, Indiana, a county with a high incidence of sickle but no sickle cell specialists within a 65-mile radius until the program’s establishment in 2017.¹³ In a few years, SCORE has engaged in patient education and coordinated SCD management, identifying and addressing barriers to care. Patients with SCD are receiving much better care: stroke screenings, vaccinations, and higher doses of hydroxyurea, a common SCD treatment. However, this is still not a multidisciplinary center like the ones readily available for CF or hemophilia. Care is delivered through clinics at a Federally Qualified Health Center in Lake County up to eight times a year, very different from having a constant presence.¹³

Patients with SCD are not to be forgotten. They deserve access to care — care within a reasonable distance from their homes, care that is catered to their specific disease, care that can account for other risk factors based on the analysis of aggregated data. When battling a disease that affects the whole body, patients with SCD need as comprehensive and multidisciplinary an approach as possible.

About the Author

Sophia Lerebours, ‘26 is an undergraduate at Harvard University intending to study Statistics on the Bioinformatics and Computational Biology Track.

References

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10. Centers for Disease Control and Prevention. Hemoglobinopathies: Surveillance & History. [Internet]. Atlanta: Centers for Disease Control and Prevention; [updated 2021 Feb 1; cited 2023 May 4]. Available from: https://www.cdc.gov/ncbddd/hemoglobinopathies/surveillance-history.html

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