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ASH Sickle Cell Disease Summit: A Call to Action

December 30, 2021

In mid-April, more than 60 experts in sickle cell disease (SCD), including clinicians and researchers, federal agency partners, representatives from industry, and other members of the SCD community convened at ASH Headquarters in Washington, DC, for the ASH Sickle Cell Disease Summit: A Call to Action, with the goal of advancing outcomes for individuals with SCD. The Summit focused on issues both in the United States and around the world.

The goal of the Summit was to identify highest-priority actions needed to advance outcomes for persons with SCD and map a plan to advance those actions in the short-term (less than 5 years) and long-term (5 to 10 years).

Underused Effective Therapies

Two key discussion themes were access to care and research priorities, both of which, according to Charles S. Abrams, MD, ASH President-Elect, chair of the Summit, and a member of the Summit Steering Committee, are "historically very tough nuts to crack."

Dr. Charles Abrams leads a breakout session on SCD research initiatives in the United States.
Dr. Charles Abrams leads a breakout session on SCD research initiatives in the United States.

The first of these is a glaring problem, given that existing effective treatments do not reach the majority of individuals – especially adults with SCD – who could benefit from them. "There's not enough funding, not enough knowledge, and not enough education for both patients and physicians," Dr. Abrams said.

"Both hematologists and primary-care physicians seem to not be ‘plugged in' to adult patients and are often not providing what has been shown to be helpful," Dr. Abrams commented.

While hydroxyurea requires monitoring because of potential toxicities, it does reduce long-term complications. Other experts at the SCD Summit echoed this frustration over underuse of hydroxyurea.

Alexis Thompson, MD, MPH, who heads the Hematology Section at the Anne and Robert H. Lurie Children's Hospital, is professor of pediatrics at Northwestern University Feinberg School of Medicine, and is a member of the ASH Sickle Cell Disease Work Group, observed that many are unaware that hydroxyurea, the only FDA-approved treatment for SCD, is very effective in reducing the frequency and severity of pain episodes and acute chest syndrome.

"There are many providers who perceive that its use is complex and/or that the side-effect profile makes for difficult use and poor compliance." While close monitoring of liver function and white blood counts is necessary, Dr. Thompson said, monitoring can be conducted routinely by hematologists or primary-care physicians.

Patients, as well, may express fear about potential side effects with hydroxyurea and may be reluctant to take a drug that requires daily dosing. Also, the unfounded belief that hydroxyurea increases cancer risk persists, despite the lack of any such finding in clinical studies.

Providers, believing that patients are unwilling to look past these concerns to appreciate the proven benefits, may not even discuss its use. "We need to break down some of those barriers that prevent people from strongly considering hydroxyurea — especially in the adult population," Dr. Thompson said.

Bone marrow transplantation – a potentially curative treatment – is rarely used in children with SCD due to the likelihood that treatment will result in infertility or sterility, noted David Williams, MD, ASH President, professor of pediatrics at Boston Children's Hospital, and a member of the Summit Steering Committee. "It's hard for parents of a young child to think about that. They are understandably hesitant."

While good studies are lacking, research into transplant regimens that are less toxic is ongoing, Dr. Williams said.

"The typical SCD patient has very fragmented care," Dr. Thompson noted. A patient in an urban center may get SCD care at an academic medical center or clinic, but the widespread treatment of acute exacerbations in emergency departments shows that access to primary care is usually lacking, either because the patient lacks the resources to pay for care or because of a scarcity of local providers. "This is a complex, chronic disease, and getting adequate treatment to manage their condition is a challenge for anyone of lower income," Dr. Thompson said.

Increasing Global Access

With advances in treatment in the United States, 95 percent of children diagnosed with SCD survive to adulthood. The situation in other regions with high SCD prevalence, such as sub-Saharan Africa and India, is much different, noted Susan B. Shurin, MD, ASH Treasurer, a member of the Summit Steering Committee, and advisor to the Center for Global Health at the National Cancer Institute.

Health-care systems there, while unable to implement evidence-based SCD guidelines, do tend to be focused on infectious disease. That focus is relevant, Dr. Shurin said, given that children with SCD die most often from infections and sepsis – and often without an SCD diagnosis. Screening for newborns and referrals to specialists are unlikely. "In South Africa, for example, where there are 6 million HIV cases, sickle cell is low on their list."

In a presentation about the state of access to care globally, Enrico Novelli, MD, assistant professor of medicine and director, Adult Sickle Cell Program, at the University of Pittsburgh, and a member of the Health Volunteers Overseas (HVO) Hematology Steering Committee, which oversees the ASH-HVO partnership, focused on why access to care is a problem, citing uneven geographic distribution of the disease and weak public health and health-care delivery systems in the countries most affected by SCD, to name a few. He then touched on key components of a global health program: staff, stuff (appropriate resources), space, and systems. Dr. Novelli is also the program director for the ASH-HVO volunteer site in Dar es Salaam, Tanzania.

The challenge for ASH, Dr. Shurin said, is to work collaboratively and creatively with existing systems, rather than building parallel ones. One practical, short-term goal the Summit attendees considered: to make an SCD diagnosis as soon after birth as possible, followed by pneumococcal immunization to protect against early mortality from infection. Providing treatment with transfusions and hydroxyurea should be later, long-term goals.

Filling the Need for SCD Training

In the United States, the inadequate availability of primary-care physicians is only part of the problem. The proportion of physicians, hematology- and primary care-trained, who feel comfortable with their own level of knowledge for managing SCD patients, is not high.

The complexities of SCD management, Dr. Thompson underscored, vary across a patient's lifespan.

  • In toddlers and young children, that includes hand-foot syndrome, infection and sequestration pertaining to infancy, vaso-occlusive pain episodes, acute chest syndrome, and brain injuries for toddlers through roughly the onset of puberty
  • In older children and young adults, that includes vaso-occlusive pain episodes, acute chest syndrome, priapism, retinopathy, and gallstones
  • In adults, that includes skin ulcers, pulmonary hypertension, sickle lung disease, renal insufficiency, and cardiac dysfunction

Dr. Thompson urged development of SCD toolkits and Web-based applications for emergency personnel, as well as for advanced practice practitioners to raise their readiness to intervene – especially for SCD pain management. She also suggested education to help patients interface more effectively with the health-care providers they meet when they experience SCD events.

Patients are aware that primary-care physicians have limited SCD knowledge and limited experience with managing SCD, noted John Strouse, MD, PhD, from Johns Hopkins Children's Center in Baltimore, Maryland, and a member of the Summit Steering Committee. They also perceive that communication between primary-care physicians and hematologists is poor. Urgent appointments are difficult to schedule and follow-up after hospitalizations is poor.2

Where Do We Need More Information?

Dr. Williams underscored the need for new curative therapies in his presentation, "Research Priorities in SCD." "Future care will depend on advanced and highly targeted approaches to research, discovery, and implementation," he said. This topic did not end when the Summit came to a close. It continues to be on ASH's radar. ASH will consider updates to "ASH Priorities for Sickle Cell Disease and Sickle Cell Trait" (SIDEBAR). Over the next few months, the Society will also further develop the ideas discussed at the Summit and identify other stakeholders who need to be involved to help advance these efforts.

Genetic approaches, including gene therapies in which a functioning gene is inserted into the genome and gene editing, which repairs the mutated sickle cell beta gene, head the list of research into curative approaches. A gene therapy clinical trial is currently opening and a gene editing trial in thalassemia is slated for this year. Both are first-in-human trials.

Research is targeted toward hematopoietic cell transplant protocols with less toxicity and less tendency to cause graft-versus-host disease.

Alleviating symptom burden is also a major area of investigation; this includes strategies to inhibit the attachment of cells to blood vessel walls and other anti-inflammatory approaches to increase the protective expression of hemoglobin F.

"These are novel non-curative treatments that should be supported," Dr. Williams said. Further research into SCD pain, an additional high priority, will encompass basic investigation into neurotransmitters, acute and chronic SCD pain, psychosocial and environmental contributors to pain, and biomarkers for response to pain and opioids.

Discussing the need for reliable biomarkers, Dr. Williams noted that currently there are no methods for determining which children born with SCD will be among the 50 to 60 percent with no major problems or the 10 percent who are devastated by the disease.

"Developing predictors would be enormously helpful because we could focus therapeutic resources on those who most need it, while avoiding exposing patients to difficult and toxic therapies who do well without them," he added.

Quality indicators, Dr. Strouse said, have been established for individuals younger than 18 years by the National Quality Measures Clearinghouse3 but not for adults. Proposed measurement items discussed at the Summit include: the proportion of patients with hemoglobin sickle syndrome treated with hydroxyurea; time to first parenteral analgesic for severe pain; the proportion of patients readmitted within 30 days of hospital discharge; and immunizations, retinopathy, renal disease, and iron overload screening.

Funding and Reimbursement

"If we had adequate funding from government, private foundations, and industry, we could make huge inroads in SCD treatment," Dr. Abrams said. The underuse of hydroxyurea, for one, could be addressed through education and relevant research, which requires increased funding.

Payers, naturally, may well be interested in and influenced by such research. Low reimbursement for treating SCD patients can also affect quality of care, according to Dr. Thompson.

"Primary-care providers are challenged every day with large volumes of patients whose insurance sources provide inadequate reimbursement, given the time that needs to be invested to effectively manage this complex, chronic illness," she said. "We recognize that some fundamental changes in SCD reimbursement may be needed."

Referencing the large number of SCD patients who have non-private insurance, Dr. Thompson noted that a representative from the Centers for Medicare & Medicaid Services participated in the Summit. "To find achievable solutions, we need to bring them and other insurers to the table."

How to allocate funds across the range of clinical and logistical aspects of SCD care is a complex problem, Dr. Thompson acknowledged. "I applaud ASH's willingness and ability to take a leadership role. ASH is well-suited for this role and can definitely make some headway."

When asked about his impressions of the Summit, Dr. Williams responded, "I was delighted to hear, multiple times, that participants really valued and appreciated ASH's initiative in this arena."

Summing up, Dr. Williams said that the major challenges are improving access to care, advancing research, and addressing the global disparities in outcomes for individuals with SCD. "This is a large undertaking and truly a call to action for ASH. It means taking leadership, identifying other partners at the federal level and from the private sector, and bringing them together to look at tough questions – and to come up with durable answers."


1. Brousseau DC, Owens PL, Mosso AL, et al. Acute care utilization and rehospitalizations for sickle cell disease. JAMA 2010;303:1288-1294.

2. Liem RI, O'Suoji C, Kingsberry PS, et al. Access to patient-centered medical homes in children with sickle cell disease. Matern Child Health J. 2014;18:1854-62.

3. Agency for Healthcare Research and Quality. Sickle Cell Disease Measures from the National Quality Measures Clearinghouse. Accessed April 30, 2015 from


ASH Priorities for Sickle Cell Disease and Sickle Cell Trait

Research Priorities

  • Identify predictors of disease severity
  • Optimize the use of existing therapies
  • Develop novel therapies
  • Strengthen curative therapies
  • Enhance pain research
  • Improve access to evidence-based care through innovative health-care delivery models
  • Determine the effects of quality of care on quality of life
  • Investment in sickle cell trait research

Other Priorities

  • Expand global initiatives
  • Support a sustainable SCD workforce

To learn more about each of these priorities, go to For additional information and to share your thoughts and comments, please contact ASH Government Relations and Practice Manager, Stephanie Kaplan, at or 202-776-0544.


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