David Anderson, MD
Sickle cell disease (SCD) is the most common inherited blood disorder worldwide; with patients experiencing acute or chronic pain, and increased risk of bacterial infections, organ damage, and stroke. In the United States, there are approximately 100 000 people living with SCD and 2 000 newborns diagnosed annually. Despite significant care advances, their life expectancy is still about 20 years less than the general population.
The mainstays of pediatric SCD management include recognition and treatment of pain, prevention of bacterial infection with vaccinations and antibiotic prophylaxis, screening for stroke risk by transcranial Doppler ultrasound (TCD) and offering chronic transfusions to high-risk patients, and prescribing hydroxyurea (a repurposed chemotherapeutic that increases the level of fetal hemoglobin, partially compensating for sickle hemoglobin).
Frustratingly, the healthcare community does an abysmal job of providing even these basic, proven interventions for patients with SCD, furthering disparities in a population already suffering from structural racism, under-recognition of disease burden, and historical underfunding of research. Despite national guidelines and decades of supporting evidence, a recent Centers for Disease Control report found that fewer than half of children with SCD received a TCD in 2019, and only around half of children, at best, were prescribed hydroxyurea. Although national data is limited, antibiotic prophylaxis and additional vaccination coverage may also be suboptimal.
At CHOP, our rates of TCD screening and hydroxyurea use are significantly higher than these numbers, and we are continually striving to improve. As part of my dual fellowship combining hematology/oncology and clinical informatics, I am working on a project to automatically collect and analyze medication refill data from community pharmacies to identify patients with suboptimal adherence to hydroxyurea and/or antibiotic prophylaxis and address barriers to access. Sarah Dain, MD, a third-year hematology/oncology fellow, is researching the impact of hydroxyurea use on stroke risk, and our Comprehensive Sickle Cell Disease Center staff already uses robust care management tools within the electronic medical record to target patients with care gaps.
While hematologists coordinate most SCD care, it is important for general pediatricians and other subspecialists to be aware of the basic preventative measures, which can be refilled or delivered throughout the medical system. Patients with SCD also tend to have their pain underrecognized and undertreated, especially in the emergency setting, so early consultation with hematologists and appropriate prescription of opioids and adjunctive therapies is crucial for health equity.
A handful of new medications for SCD have recently been approved, and there is increasing availability of bone marrow transplant and other curative therapies. We hope many of today’s children with SCD will be able to be cured within the next few decades, but meanwhile there is much work to be done: a major unmet need—and moral imperative—to deliver the current standard of care to every patient with SCD.
Reference and selected reading
Schieve A, Simmons G, Payne A, et al. Use of recommended health care measures to prevent selected complications of sickle cell anemia in children and adolescents — selected U.S. states, 2019. MMWR Morb Mortal Wkly Rep. 2022;71:1241–1246.
David Anderson, MD
Sickle cell disease (SCD) is the most common inherited blood disorder worldwide; with patients experiencing acute or chronic pain, and increased risk of bacterial infections, organ damage, and stroke. In the United States, there are approximately 100 000 people living with SCD and 2 000 newborns diagnosed annually. Despite significant care advances, their life expectancy is still about 20 years less than the general population.
The mainstays of pediatric SCD management include recognition and treatment of pain, prevention of bacterial infection with vaccinations and antibiotic prophylaxis, screening for stroke risk by transcranial Doppler ultrasound (TCD) and offering chronic transfusions to high-risk patients, and prescribing hydroxyurea (a repurposed chemotherapeutic that increases the level of fetal hemoglobin, partially compensating for sickle hemoglobin).
Frustratingly, the healthcare community does an abysmal job of providing even these basic, proven interventions for patients with SCD, furthering disparities in a population already suffering from structural racism, under-recognition of disease burden, and historical underfunding of research. Despite national guidelines and decades of supporting evidence, a recent Centers for Disease Control report found that fewer than half of children with SCD received a TCD in 2019, and only around half of children, at best, were prescribed hydroxyurea. Although national data is limited, antibiotic prophylaxis and additional vaccination coverage may also be suboptimal.
At CHOP, our rates of TCD screening and hydroxyurea use are significantly higher than these numbers, and we are continually striving to improve. As part of my dual fellowship combining hematology/oncology and clinical informatics, I am working on a project to automatically collect and analyze medication refill data from community pharmacies to identify patients with suboptimal adherence to hydroxyurea and/or antibiotic prophylaxis and address barriers to access. Sarah Dain, MD, a third-year hematology/oncology fellow, is researching the impact of hydroxyurea use on stroke risk, and our Comprehensive Sickle Cell Disease Center staff already uses robust care management tools within the electronic medical record to target patients with care gaps.
While hematologists coordinate most SCD care, it is important for general pediatricians and other subspecialists to be aware of the basic preventative measures, which can be refilled or delivered throughout the medical system. Patients with SCD also tend to have their pain underrecognized and undertreated, especially in the emergency setting, so early consultation with hematologists and appropriate prescription of opioids and adjunctive therapies is crucial for health equity.
A handful of new medications for SCD have recently been approved, and there is increasing availability of bone marrow transplant and other curative therapies. We hope many of today’s children with SCD will be able to be cured within the next few decades, but meanwhile there is much work to be done: a major unmet need—and moral imperative—to deliver the current standard of care to every patient with SCD.
Reference and selected reading
Schieve A, Simmons G, Payne A, et al. Use of recommended health care measures to prevent selected complications of sickle cell anemia in children and adolescents — selected U.S. states, 2019. MMWR Morb Mortal Wkly Rep. 2022;71:1241–1246.