Even as the United States has made commitments to health as a human right and reversing health disparities and has invested significantly in orphan diseases, it continues to overlook sickle cell disease (SCD), the most common inherited blood disorder worldwide, which affects more than 100,000 Americans, most of whom are Black or Hispanic American.
As hematologists who take care of people with sickle cell disease, it’s disheartening to see this condition receive only a fraction of the attention and resources that other inherited disorders receive. Cystic fibrosis, for example, which affects approximately 30,000 Americans, receives 10 times the federal funding.
The disparities don’t stop there. People with sickle cell disease often aren’t believed when they describe their pain, with some being falsely labeled as drug seekers. Others have limited access to specialists because of their insurance.
Changing this troubling status quo will require changing the current, reactionary approach to managing patients with sickle cell disease to encompass all aspects of their health. We believe the essential first step is for Congress to pass the Sickle Cell Disease Comprehensive Care Act (S. 3389 and H.R. 6216). It would establish federal funding for state Medicaid programs to create special centers to provide comprehensive, preventive outpatient care for people with sickle cell disease with a focus on young adults and pregnant people.
Sickle cell disease occurs in people with two atypical copies of the gene for “sickle” beta hemoglobin. This gene occurs mainly in descendants of people from regions where malaria is prevalent such as sub-Saharan Africa, Southeast Asia, and Central America. This is because having a single copy of this gene, which causes what’s known as sickle cell trait, results in lower oxygen concentration in the red blood cells, limiting the growth of the parasite that causes malaria, but doesn’t cause significant sickling of red blood cells.
In situations of stress or low oxygen, the red blood cells of people with sickle cell disease can become “C”-shaped, like the farm tool known as a sickle. These cells don’t live as long as normal red blood cells, and they can get stuck inside small blood vessels. This can cause constant, often debilitating pain and multi-organ complications, including strokes, blood clots, kidney failure, liver failure, and early death — the average lifespan of women in the U.S. with sickle cell disease is 43 years, and 41 years for men.
Though all newborns in the U.S. are supposed to be tested for sickle cell disease, there is no system to ensure all that all infants identified as having it are referred to a specialist. There is also little information available on where most people with sickle cell disease live or how they access the health system.
Preliminary efforts to improve the understanding of SCD epidemiology include the passage of legislation like the Sickle Cell Disease and Other Heritable Blood Disorders Research, Surveillance, Prevention, and Treatment Act of 2018, which has provided funding to the Centers for Disease Control and Prevention to begin sickle cell disease surveillance and registry-building programs in 11 states. The early returns on investment have been significant, particularly in California and Georgia, where these data have been used to direct resources to areas previously lacking specialized care for sickle cell disease. This program needs to be expanded to other states.
For more than 70 years after sickle cell disease was discovered, there were no drugs to treat this disorder. The first, hydroxyurea, became available in the 1980s. In the past few years, advances in research on sickle cell disease are being translated to treatments, resulting in three new FDA-approved medications, improvements in curative stem cell transplants, and transformative gene therapies that could potentially change how we treat sickle cell disease.
Yet access to these therapies has remained limited, as not all individuals with sickle cell disease can access the specialists who can provide them. This is partly because significantly fewer people with sickle cell disease who are covered by programs like Medicaid are seen by hematologists (7%) than those covered by commercial insurance (43%) — and a higher proportion of people with sickle cell disease are covered by Medicare and Medicaid (approximately 60%) than those with other inherited hematologic conditions (20% to 40%). Access is further limited by a paucity of hematologists with specialty training or knowledge of sickle cell disease, and the limited reimbursement for the treatment they provide and the complexity of care required for people with this disease.
Caring for individuals with sickle cell disease is exceedingly expensive, with an estimated lifetime cost of $1.7 million per person — which is likely an underestimate. This is due to high costs of care delivered in the emergency department, primarily for severe pain crises when an increased amount of the sickled red blood cells suddenly clump in small blood vessels, the limited access to sickle cell specialists, and the multi-organ dysfunction resulting from this disease. Consistent preventive management is needed to interrupt this vicious cycle of emergency department and hospital admissions and readmissions, but the U.S. health care system, especially for people covered by Medicaid, is not currently built to reward preventive or comprehensive care. Investment in these services, however, has real potential for overall savings.
For meaningful progress to be made, the U.S. needs to fund comprehensive care centers for sickle cell disease, similar in design to the country’s nearly 150 comprehensive hemophilia treatment centers that includes provisions for mental health as well as necessary eye and dental care. The National Alliance for Sickle Cell Centers was founded to recognize sickle cell centers, but there is no federal funding to support their maintenance or the necessary quality improvement activities needed to improve treatment. These centers could be supported through the Center for Medicare and Medicaid Innovation or, preferably, through the Sickle Cell Disease Comprehensive Care Act, which has active bipartisan support. This funding structure would allow for more of these treatment centers to form and grow, while putting systems in place to ensure high-quality care for people with SCD.
These comprehensive centers would be hubs of specialists trained to manage the full spectrum of sickle cell disease, with the primary objectives being to prevent some of the disease’s most extreme consequences and to increase the length and quality of life. With better continuity of care, people with the disease could receive personalized care plans to manage routine complications and thereby avoid unnecessary visits to emergency departments. Providing appropriate care that prevents debilitating complications would allow affected individuals more freedom to engage in gainful employment. These centers could also implement innovations such as day hospitals to provide blood transfusions, intravenous fluids, and pain medications without emergency department visits. Day hospitals and specialized infusion centers have demonstrated cost savings and improved care quality, yet less than half of the recognized sickle cell centers have day hospitals due to limited funding.
These centers could become financially self-sustaining if the care they provide is appropriately reimbursed, while at the same time realizing the underlying goals of improved quality of care and correction of structural inequities. This would represent a measurable commitment to improving the quality and access to care for people with SCD.
To be sure, these solutions alone won’t fix generations of underlying issues of systemic and overt racism that have resulted in disbelief of individual’s descriptions of their SCD-related pain and routine undertreatment. For a program of comprehensive centers to successfully improve access to symptomatic and preventive care, it will need to be accepted by the sickle cell community, since generations of mistreatment have contributed to a lack of faith — if not outright distrust — in the health system.
To reverse generations of injustice to the sickle cell community, a substantial investment in public funds is needed for data collection and dissemination of resources, education and training, formation of special comprehensive care centers, and financial and social support for patients to access these services. Achieving all of this requires comprehensive care plan for people with sickle cell disease.
Amar Kelkar is a hematologist at the Dana-Farber Cancer Institute in Boston and an instructor in medicine at Harvard Medical School. Julie Kanter is a hematologist, director of the Adult Sickle Cell Disease Program, and an associate professor of hematology and oncology in the Division of Hematology and Oncology at the University of Alabama at Birmingham. Payal Desai is a hematologist, director of the Sickle Cell Disease Enterprise, and an associate professor at the Levine Cancer Institute at Atrium Health in Charlotte, N.C.
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