Sickle Cell Disease Center Research Articles

Digital cognitive behavioral therapy vs education for pain in adults with sickle cell disease

AbstractDespite the significant burden of chronic pain in sickle cell disease (SCD), nonpharmacological approaches to manage pain in SCD are lacking. Behavioral interventions incorporating digital cognitive behavioral therapy (CBT) for pain should be compared with available education efforts. This multisite randomized comparative effectiveness trial aimed to compare a CBT intervention tailored for adults with SCD with a digital pain/SCD educational intervention (“Education”) in terms of improving pain and associated symptoms. Participants were recruited virtually from 7 comprehensive SCD centers and community organizations in the United States. Adults (aged ≥18 years) with SCD-related chronic pain and/or daily opioid use were randomly assigned to CBT or Education. Over 12 weeks, the CBT arm received an app-based intervention for pain management; the Education arm received digital pain/SCD education. Both groups received interactive chatbot lessons plus personalized health coach support. Changes in the pain interference scale (primary outcome) and other patient-reported secondary outcomes, including pain intensity, depression, anxiety, quality of life, and self-efficacy, were assessed over 6 months. Of the 453 participants who completed screening, 359 (79%) were randomly assigned to CBT (n = 181) or Education (n = 178), 332 (92%) were Black African American, and 238 were (66.3%) female. At 6 months, 250 (70%) participants (n = 125 per arm) completed follow-up assessments, 93 (26%) missed their follow-up window, and 16 (4%) withdrew. Engagement with the chatbot content was variable (76% connected, 48% completed ≥1 lesson). However, 80% of participants completed ≥1 session with a health coach via phone, video, or text. The 6-month change in pain interference in the CBT (−2.13; 95% confidence interval [CI], −3.42 to −0.84) and Education (−2.66; 95% CI, −3.97 to −1.36) groups was not significantly different (mean difference, 0.54; 95% CI, −1.30 to 2.37; ∗P = ∗.57). Daily pain intensity ratings did not change for either group. There were no between-arm differences in depression, anxiety, quality of life, or the effect of the intervention on pain and mental health in SCD when combined with health coaching. Variable engagement with digital components and high engagement with health coaching may explain the lack of between-group differences, but these findings also provide insights into delivering digital interventions in racial minority and difficult-to-reach populations. This trial was registered at www.clinicaltrials.gov as #NCT04419168.

Social determinants of health and treatment center affiliation: analysis from the sickle cell disease implementation consortium registry

BackgroundAdults with sickle cell disease (SCD) suffer early mortality and high morbidity. Many are not affiliated with SCD centers, defined as no ambulatory visit with a SCD specialist in 2 years. Negative social determinants of health (SDOH) can impair access to care. Hypothesis: Negative SDOH are more likely to be experienced by unaffiliated adults than adults who regularly receive expert SCD care.MethodsCross-sectional analysis of the SCD Implementation Consortium (SCDIC) Registry, a convenience sample at 8 academic SCD centers in 2017–2019. A Distressed Communities Index (DCI) score was assigned to each registry member’s zip code. Insurance status and other barriers to care were self-reported. Most patients were enrolled in the clinic or hospital setting.ResultsThe SCDIC Registry enrolled 288 Unaffiliated and 2110 Affiliated SCD patients, ages 15-45y. The highest DCI quintile accounted for 39% of both Unaffiliated and Affiliated patients. Lack of health insurance was reported by 19% of Unaffiliated versus 7% of Affiliated patients. The most frequently selected barriers to care for both groups were “previous bad experience with the healthcare system” (40%) and “Worry about Cost” (17%). SCD co-morbidities had no straightforward trend of association with Unaffiliated status. The 8 sites’ results varied.ConclusionThe DCI economic measure of SDOH was not associated with Unaffiliated status of patients recruited in the health care delivery setting. SCDIC Registrants reside in more distressed communities than other Americans. Other SDOH themes of affordability and negative experiences might contribute to Unaffiliated status. Recruiting Unaffiliated SCD patients to care might benefit from systems adopting value-based patient-centered solutions.

Initial outcomes in a sickle cell disease transition clinic

BackgroundTransition in sickle cell disease (SCD) is associated with an alarming increase in acute care utilization, cost, and risk of early mortality. Effective transition preparation is crucial to address these issues. We established a multidisciplinary transition clinic at our urban SCD center in the fall of 2021. At each visit patients were introduced to the transition process and met with a pediatric and adult SCD provider. MethodsWe reviewed charts of patients attending the clinic from September 2021 to May 2023. Data were collected on the number of visits in the transition and adult SCD clinics. Clinic notes were reviewed, identifying the main topics of discussion, and examining patient attitudes and feelings towards transition. ResultsTwenty-two patients aged 20–27 years with 35 total visits were included in the analysis. Eighteen (82%) patients had at least 1 visit to transition clinic. Out of 10 scheduled patients, 8 attended their first adult care visit within 2.4 months of their last transition visit. Medical topics brought up by patients included difficulty remembering to take hydroxyurea, questions about reproductive and menstrual health, and support pursing higher education with a chronic disease. Patients expressed a variety of feelings about transition from “no concerns” to “nervousness” and questioning “what to expect”. Concerns were alleviated by learning about the process. One patient reported feeling “much better" after being introduced to the adult provider. ConclusionWe demonstrated that a collaborative transition clinic prepares young adults with SCD for transition to adult care. Meeting with their adult SCD provider prior to transfer helped alleviate patients’ concerns. Future work will involve tracking patients as they integrate into adult clinic.

Delayed Management of Sickle Cell Disease Vaso-Occlusive Episodes and the Impact on Prolonged Hospitalizations at a Single Academic Center

Introduction: Sickle Cell Disease (SCD) affects nearly 100,000 people in the United States (Centers for Disease Control and Prevention, 2023). Vaso-occlusive episode (VOE) is the most common reason for hospitalization in SCD. Many providers are unfamiliar with the pain management timing and dosages required to adequately treat these episodes (Jang et al., J Transl Med 2021). Nationally, areas with comprehensive sickle cell centers have shown decreased hospital utilization, fewer VOEs, and improved quality of life (Oyedeji et al. JAMA 2020). Even in areas without a comprehensive center, implementing individualized pain care plans for SCD has reduced admission rates of high-utilizing patients while not impacting their pain rating scores (Welch-Coltrane et al. Pain Medicine 2021). Our academic hospital, Oregon Health and Science University (OHSU), lacks a comprehensive SCD center and VOE treatment plans are not easily accessible for these patients. We conducted a retrospective analysis on a cohort of patients with SCD to investigate the factors influencing the length of emergency department (ED) and hospital stays for VOE. We aim to identify if implementing individualized pain plans via a standardized template within the electronic health record (EHR) for these patients will decrease hospital admission, length of stay and time to ED discharge. We also aim to integrate individualized pain plans into the EHR that would allow for direct exposure to the care team by creating plans that are easily accessible, reviewed, and routinely utilized for clinical decision-making. Methods: We performed a preliminary retrospective analysis of encounters (n=107) from 2008-2023 at OHSU, where the primary diagnosis was either a VOE or an equivalent diagnosis. Based on data demonstrating earlier maximum opioid doses leading to shortened hospital stays in frequent pain patients, we recorded the timing of the first opioid and morphine milliequivalents per hour in the first 24 hours (Payne et al. Pediatr Blood Cancer 2018). Additionally, we recorded the length of stay, admission rates, time to first IV fluid, and the type of IV fluid used. We performed a linear regression analysis on the collected data with the dependent variable as the length of stay across the independent variables of time to first opioid, time to first intravenous fluid, and morphine milliequivalents per hour during the first 24 hours after presentation. Results: Eighteen patients accounted for the 107 analyzed encounters. Thirteen patients (72%) had Hgb-SS disease, 2 (11%) had Hgb-SC disease, and 3 (17%) had Hgb-S-beta thalassemia. Sixty-two admissions (58%) were ED discharges, and 45 (42%) were ED to hospital admissions. The length of stay and time to the first opioid positively correlated with p=0.005 (Figure 1a). The length of stay and time to first intravenous fluid administration was also positively correlated with p=0.01. The length of stay and morphine milliequivalents per hour in the first 24 hours were negatively correlated with p<0.0001 (Figure 1b). Conclusions: Longer time to administration of opioids and intravenous fluids correlated with a longer length of stay in both the ED and the hospital. Additionally, lower morphine milliequivalents in the first 24 hours of presentation were associated with a prolonged hospital stay at our institution. We hypothesize that these three factors are secondary to delays in care and inappropriate initial treatment of VOE. To address these factors, we aim to implement standardized pain plans in the EHR of our institution. Implementation of individualized pain plans, particularly in the ED, has led to the earlier initiation of opioids (Della-Moretta et al. Ann Emerg Med 2020). We anticipate similar effectiveness for timely and appropriate fluid administration and adequate opioid dosing. We plan to continue retrospective analysis and compare this data to VOE encounters post-implementation. By implementing individualized plans that are integrated within the EHR and efficiently utilized by the care team, we hope to improve VOE management at our institution with decreased length of stay, less ED to hospital admissions, and improved patient satisfaction.

Pre-Anesthesia Transfusion and Peri-Procedure Complications in Patients with Sickle Cell Disease on Hydroxyurea

Introduction Patients with sickle cell disease (SCD) are at increased risk of perioperative complications following general anesthesia including acute chest syndrome (ACS), vaso-occlusive pain episodes (VOE), and infection. The 2013 Transfusion Alternatives Preoperatively in SCD (TAPS) study found preoperative transfusion of patients with SCD, type SS or SB 0 thalassemia, prior to low- or medium-risk surgeries was associated with decreased perioperative complications. The American Society of Hematology 2020 guidelines for transfusion support for SCD suggest preoperative transfusion for those requiring general anesthesia (GA) lasting > 1 hour; however, it was noted that this should be individualized based on factors such as risk of surgery, baseline hemoglobin (Hb), and disease severity. With more broad use of Hydroxyurea (HU) that improves baseline Hb and decreases ACS and VOE frequency, we lack equipoise for when pre-anesthesia transfusion is indicated. We performed a chart review on pediatric patients with SCD at a large SCD center to determine clinician practice of pre-anesthesia transfusion versus no transfusion for patients on HU and the incidence of post-anesthesia complications with and without pre-anesthesia transfusion. Methods We performed an institutional review board approved retrospective chart review of patients with SCD (all genotypes) aged 0 to 22 years who underwent procedures or imaging studies with GA between the years 2019 and 2022 at our institution. Surgical risk score was assigned to all procedures per the TAPS study criteria. We examined the incidence of post-anesthesia complications occurring in the emergency department or hospital within 30 days post-anesthesia. Complications such as VOE, ACS, transfusion-related effects, and infection were recorded as categorical variables. Results We identified 165 patients with SCD who underwent GA at our center between 2019 and 2022: 56 of these patients were on hydroxyurea and 41 were not on hydroxyurea. We excluded 52 patients on chronic transfusion and 16 who had not consented for participation or had anesthesia encounters during a stem cell transplant admission. Among the 56 patients on HU, 34 received pre-anesthesia transfusion (2 by exchange transfusion) and 22 did not. The average Hb of those on HU who received pre-anesthesia transfusion was 8.64 g/dl (SD 1.1 g/dl) and of those who did not receive transfusion it was 9.4 g/dl (SD 1.33 g/dl) (p = 0.03, unpaired t-test). Among patients on HU who received transfusion, 4/34 (12%) had post-anesthesia complications and of those who did not receive transfusion, 6/22 (27%) had complications (p = 0.17, Fisher exact test) (Table). Among the transfused cohort, complications occurred after 2 low-risk procedures (ACS after an electrophysiology study with radiofrequency ablation and streptococcal infection after an abdominal exploratory laparoscopy), 1 medium-risk procedure (hematuria/abdominal pain after laparoscopic cholecystectomy) and 1 high-risk procedure (respiratory failure after coarctation of the aorta repair). Among patients who were not transfused, complications occurred after 2 imaging studies (ACS in the setting of parainfluenza infection after brain MRI and VOE after shoulder MRI), 2 low-risk procedures (ACS after laparoscopic appendectomy and VOE after adenoidectomy), and 2 medium-risk procedures (ACS after laparoscopic cholecystectomy and multiple admissions for 1 patient for ACS and VOE after endoscopic retrograde cholangiopancreatography). Conclusions In patients with SCD -SS or -SB 0 thalassemia on hydroxyurea undergoing procedures with anesthesia at our center, clinicians continued to prescribe pre-anesthesia transfusion for those with a Hb < 9 g/dl. The incidence of complications was higher in patients on HU who did not receive pre-anesthesia transfusion despite an average pre-procedure Hb of > 9 g/dL, but this was not statistically significant in our small sample size. However, these numbers are comparable to the findings of the TAPS study which found that 5/33 (15%) patients in the preoperative transfusion group had clinically important complications compared with 13/33 (39%) patients in the no transfusion group. These findings suggest that despite higher baseline Hb levels in the setting of HU use, patients with sickle cell disease may continue to benefit from pre-anesthesia transfusion but a randomized controlled trial is necessary.

High Rate of Attendance at a Young Adult Clinic Embedded in an Adult Sickle Cell Center: If You Build It, They Will Come

Introduction The transition from pediatric to adult care for people with sickle cell disease (SCD) is associated with multifactorial vulnerabilities including life stage of affected individuals (emerging adulthood), accumulating SCD morbidities, lack of adult specialists to provide care, and limited resources to ensure successful integration into adult care. Much of the data on transition in SCD is reported from pediatrics. The purpose of this study is to describe attendance of young adults with SCD at a young adult clinic embedded in an adult SCD center. Methods The Johns Hopkins IRB approved this single-center, retrospective cohort study that included all patients scheduled with the hematologist at the Young Adult Clinic (YAC) in the Sickle Cell Center for Adults at Johns Hopkins between March 1, 2019 and June 31, 2023. YAC referrals come mostly from pediatric hematology centers or Center staff who refer patients <30 years old without an assigned hematologist. The YAC has an “infinite reschedule” policy: there is no limit on rescheduling missed appointments. We included all patients scheduled to see the YAC hematologist and captured patient demographic and SCD characteristics, referral sources, and clinic attendance. Patients' YAC referral indication was categorized as pediatric referral for aging out of care, internal referral, re-entering care, relocation, transfer from outside adult care, no prior care, or pregnancy. Subjects were classified as “attended” if they ever had a YAC visit and “never attended” if they never had a YAC visit. We compared subject characteristics using tests of proportions, non-parametric, or t-tests as appropriate. Results The 193 subjects with a scheduled visit were mean age 23.8+/-2.4 years, 61% female, 74% HbSS/HbSβ 0 genotypes, 58% were publicly insured, 56% received hydroxyurea or chronic transfusions, and 82% previously received care at a regional pediatric SCD care center (Table 1). For 40%, the appointment indication was pediatric referral for aging out of care. Most scheduled subjects (89%, 171/193) attended a YAC appointment; 11% (22/193) did not. Among those who attended a visit, 61% (105/171) attended the first scheduled visit and 39% (66/171) attended rescheduled visits. The median number of rescheduled visits was 1 (IQR 1). Median days from last pediatric to first YAC visit varied by indication; It was shortest for pediatric referrals (107 days, IQR 193), longer for relocation (304 days, IQR 1022), and longest for those re-entering care (1575 days, IQR 843). Referral from pediatrics for aging out of care was associated with 99% attendance (76/77 attended vs 1/77 never attended, p<0.001). Risks for not attending any visit included re-entering care (14/171 attended vs 7/22 never attended, p<0.001), relocation (11/171 attended vs 6/22 never attended, p<0.01), and longer time from last pediatric visit to first scheduled YAC visit (median 333 days attended vs 1533 days never attended, p<0.01). Visit attendance was not associated with age, sex, genotype, pediatric care site, insurance, SCD treatment, or reschedule attempts. Among 22 subjects who never attended a YAC visit, 7 were seen by a Center Advanced Practice Provider (APP). Among the 15 subjects never seen in the Center (Table 2), most (N=7) were re-entering care and last pediatric visit was over 3 years (median 1296 days, IQR 1855) before scheduled YAC appointment. In total 92% of YAC-eligible subjects engaged in SCD care, 171 with the YAC hematologist and 7 with an APP. In this cohort, there were 4 deaths and 4 successful bone marrow transplants. Conclusion Most young adults offered repeated opportunities to engage in comprehensive SCD care at the YAC ultimately pursue care. Rates of attendance at a specialty clinic for young adults with SCD were especially high, 99%, for referred from pediatric SCD care without no difference in attendance by sex, referral site or insurance, a proxy for socioeconomic status. Patients with care gaps are less likely to attend visits, but the low number of subjects who never attended limits conclusions. The outcomes underscore the high stakes of SCD care: most (57%) used SCD treatment, 2% died, and 2% were cured of SCD. There is overrepresentation of women in the cohort, but men and women are equally represented among clinic non-attenders. Sex-specific risk factors for continuing, or not, in SCD care need study. Resources are needed to identify and bring patients into care.

Association of Health-Related Quality of Life and Work Productivity with Clinical Characteristics in Adults with Sickle Cell Disease

Introduction: Adults with sickle cell disease (SCD) suffer from periodic episodes of severe acute pain, chronic pain, fatigue, acute complications, end-organ damage and early mortality. We explored clinical characteristics associated with health-related quality of life (HRQoL) and work productivity and activity impairment (WPAI) in adults with SCD. Methods: Between January 2022 and June 2023, we recruited 87 adults aged ≥18 years with a diagnosis of SCD from four U.S. NASCC recognized SCD centers participating in the Globin Research Network for Data and Discovery ( GRNDaD) registry. We collected data on patient socio-demographics, fatigue, chronic pain, WPAI, and HRQoL measured by EQ-5D-5L and ASCQ-Me via patient survey. Medical history checklist (MHC) score sums 9 SCD complications and treatment history. Clinical charateristis on SCD subtype and baseline hemoglobin were obtained from the medical record. Clinical characteristics and self-reported MHC, chronic pain associated with HRQoL, and WPAI scores were assessed by Student T-tests or Pearson correlation. Results: Mean age was 38.0±13.4 (standard deviation) years, 58.6% of the sample was female, 64.3% had hemoglobin (Hb) SS disease, 73.6% reported chronic pain (experiencing pain on ≥3 days per week in the past 6 months). Mean EQ visual analogue scale (VAS) was 71.3 (lower than the U.S. 35-44 age mean of 81.8). Mean EQ index score was 0.73 (lower than the U.S. 35-44 age group population norm 0.85). Mean fatigue score was 52.1 (range 33.7-75.8) and was negatively correlated with HRQoL scores, indicating higher fatigue correlated with lower patient's self-rated health, including the EQ VAS (correlation coefficient r=-0.49, p<0.0001), EQ index score (r=-0.53, p<0.0001), and all domain of ASCQ-Me scores including pain (r=-0.52, p<0.0001), stiffness (r=-0.55, p<0.0001), sleep (r=-0.43, p<0.0001), emotion (r=-0.65, p<0.0001), and social functioning score (r=-0.64, p<0.0001). Fatigue score was correlated with pain episode frequency (r=0.29, p=<0.001, indicated more frequent pain episodes correlated with higher fatigue), and pain episode severity score (r=0.34, p=0.002). Fatigue score also correlated with overall activity impairment due to SCD (r=0.47, p<0.0001). MHC score was negatively correlated with EQ VAS (r=-0.32, p=0.003), EQ index score (r=-0.35, p=0.001), ASCQ-Me pain (r=-0.25, p=0.02), stiffness (r=-0.28, p=0.009), emotion (-0.23, p=0.03), social (r=-0.28, p=0.01), pain episode severity score (r=0.26, p=0.02) and fatigue score (r=0.35, p=0.0009). Hemoglobin was not correlated with HRQoL or fatigue scores. MHC score significantly correlated with overall activity impairment (r=0.22, p=0.04). As compared to patients who had MHC≤2, those with score>2 had significantly lower mean EQ-VAS, EQ index score, ASCQ-Me domain impacts in pain, stiffness, sleep, emotion, social funtioning, and pain episode severity, but higher fatigue score and greater absenteeism. Patients who reported chronic pain had significantly lower mean EQ VAS, EQ index score, ASCQ-Me domain impacts in pain, stiffness, sleep, emotion, social functioning, higher pain episode frequency, pain episode severity, and fatigue score, greater presenteeism score (impairment while working), overall work productivity loss and overall activity impairment than those without chronic pain. SCD subtype was not associated with HRQoL and fatigue scores. Conclusions: Hemoglobin and SCD subtype were not significantly associated with HRQoL and fatigue in this sample (possibly due to selection bias, where higher functioning patients were more likely to be selected for study participation). Fatigue in adults with SCD is moderately correlated with EQ-5D-5L scores, ASCQ-Me domains on pain, stiffness, sleep, emotion, and social functioning, as well as overall activity impairment, but weakly correlated with pain episode frequency and severity. MHC had weak correlation with EQ-5D-5L scores, ASCQ-Me domains on pain, stiffness, emotion, and social, and activity impairment. Individuals who had higher fatigue score, MHC score≥2, and reported chronic pain showed lower HRQoL and higher impairment of work productivity and activity. Future analyses will explore how multiplicity problems that SCD patients suffer impact HRQoL and work productivity and activity impairment in longitudinal data, which will identify the opportunity on intervention to improve patient care.

Advancing Care of Patients with Sickle Cell Disease through a Transformative Quality Improvement Initiative

Background Managing sickle cell disease (SCD) and its associated complications requires specialized knowledge often limited in primary and emergency care settings. Despite the availability of guideline recommendations and an expanding therapeutic landscape, hematologists experience challenges in managing sickle cell pain and implementing multidisciplinary care coordination that improves morbidity, overall disease management, and quality of life. To improve SCD care, we conducted a quality improvement (QI) study, bringing together healthcare professionals (HCPs) from established SCD centers to assess current practice patterns and develop strategies to overcome barriers to acute pain management and transitions of care for patients with SCD. Methods This QI initiative is comprised of baseline surveys (n = 115), pre- and post-surveys (n = 71) from the small-group, team-based audit-feedback (AF) sessions (Table 1), and 90-day follow-up surveys of HCPs from the four enrolled centers. Survey questions were designed to assess knowledge, confidence, and experiences managing acute pain, transitioning care, and keeping up with the latest clinical evidence and guideline recommendations for SCD. Care teams from each clinic, along with a nationally renowned expert SCD physician, participated in audit and feedback sessions to (a) assess system-specific practice gaps identified via the provider surveys, (b) prioritize areas for improvement, and (c) develop action plans for addressing root causes. Results Baseline surveys results revealed providers' top challenge encountered in managing patients with SCD as managing acute complications (40%) (Figure 1). Gaps were observed in clinicians reporting high/very high confidence in their ability to adequately manage SCD patients' acute pain episodes (51%), align clinical practices with evidence-based SCD guidelines (44%), and coordinate transitions of care (33%). Furthermore, baseline surveys showed only 19% of providers reported they are very/extremely satisfied with their current process for transitioning patients, noting top challenges in patient's difficulty navigating the adult healthcare system (47%) and deficiency of providers caring for patients with SCD near me (26%). Following participation in the AF sessions, clinicians indicated gains in high/very high confidence in their ability to adequately manage an acute pain episode for a patient with SCD (52% to 69%) and ability to coordinate transitions of care for patients with SCD (44% to 56%). During the AF sessions, Care teams set goals to improve provider education, appropriate acute care management of SCD and patient engagement. Action plans to achieve these goals include sharing the action plan with additional clinical team members (47%), collaborating among clinical teams to improve pain management plans for patients with SCD (39%) and improving patient education about SCD (31%). In 90-day follow up surveys, 75% of clinics reported improvements in acute pain management and transitions of care for patients with SCD. Furthermore, the top 3 areas of most improvement at the time of follow-up were enhancing sickle cell education provided to patients (75%), supporting teenage and young adult patients in independently managing their own care (50%), and coordinating meetings with local adult sickle cell providers and teenage/young adult patients and families (50%). Conclusions Through this QI initiative, clinical teams identified barriers to optimal SCD care, creating and implementing specific action plans to increasing knowledge of SCD and evidence-based therapies, optimizing transitions of care and improving acute pain management. While meaningful confidence and action plan gains were demonstrated, these data underscore clinical practice gaps to address in future initiatives to support safe, effective, and evidence-based processes for managing SCD to prevent complications and optimize outcomes and quality of life. Study Sponsor Statement The study reported in this abstract was funded by educational grants from Vertex Pharmaceuticals Incorporated and Agios Pharmaceuticals, Inc. The grantors had no role in the study design, execution, analysis, or reporting.

Implementation of a Multipronged Intervention to Improvement Inpatient Sickle Cell Disease Care

Introduction: Over the decades, many interventions have been used to improve care for patients with Sickle Cell Disease (SCD). There are 19 whole lifespan SCD centers, 30 pediatric SCD centers, and 28 adult SCD centers compared to 6,129 hospitals and over 220 children's hospitals in the US. The number of providers is insufficient to meet the needs of patients with SCD. Caring for patients without a dedicated Comprehensive SCD Center, such as our institution, can be challenging. Therefore, we developed a framework to leverage expertise in hematology, internal medicine, and emergency medicine to improve SCD patient care processes. In these settings, filling the gap in SCD care requires a multipronged creative approach that is implemented over time in a stepwise fashion. This allows time to adapt the intervention to the local medical system for more enduring change. This project looks at the longitudinal interventions that have occurred at the University of Chicago (UC) to address SCD care and discusses procedures to achieve successful implementation. Methods: In the first step, we identified the key stakeholders to determine the system's needs and goals (Table 1). This involved clinicians and staff who were interested in improving care for patients with SCD. The second step involved stakeholders creating a plan after analyzing the current care. Multipronged interventions were developed and implemented (see Figure 1 for a timeline and list of interventions). The final steps involved provider training. Furthermore, we tracked the progress of our interventions using the Electronic Medical Record (EMR). An EMR review was performed from 7/17/22 to 6/13/23 to evaluate our utilization. Descriptive statistics and Chi-Square were used to evaluate the data. This project was formally determined to be quality improvement and was therefore not overseen by the Institutional Review Board. Results: Regarding the first step, our task force comprises a large multidisciplinary group (see Table 1 for a full list). Next, it was important that we implement sustainable and useful systems (see Figure 1). In the review period, 154 patients were admitted 488 times. The SPP was used or viewed 134 times. Seventy-nine percent (122/154) of admitted patients had an IPP that was used, viewed, or created during their admission. Since the opening of the SCD Day clinic, there have been a total of 1045 SCD-related encounters, with an average of 36 patients a month or 1.7 patients a day. When comparing the review period to the same time in the prior year, the inpatient hydroxyurea protocol did not significantly improve the use of the medication. Hydroxyurea use changed from 64% to 65% of admissions and 65% to 68% of admitted patients. The inpatient SCD consult service received new consult requests in 44% of SCD admissions (214 total times). Lastly, over 100 hospitalists, resident physicians, inpatient teaching team physicians, and hematology physicians were educated along the way regarding changes in our system. Discussion: With time and a multipronged approach, achieving change in a large medical system is possible. The largest hurdle to overcome is funding. This is why our initial interventions focused on the implementation of EMR tools such as SPP, IPP, and educating providers. Though there was an up-front time cost, once completed, these interventions could be iterated on easily. It was not until 2022, that dedicated funding for a consult service could be secured. Having a large multidisciplinary team allows for creative ideas, dividing of tasks, accountability, and expertise in implementation. This does come with a limitation as it is harder to implement changes the larger the group becomes. Thus, a balance of members is vital. Frequent provider education is paramount in disseminating and improving the changes that are in the system. The plan, do, study, act model is a staple in quality improvement. It is important that there is foresight in developing a model to track the quality of care. The EMR's tools should be maximized to aid clinicians as efficiently as possible. Conclusion: Making large changes without funding or an institutional push can be challenging. Small incremental grassroots changes may be necessary until additional funding has been negotiated and secured. Meeting and exchanging ideas as a team and establishing pathways for improvement is a viable initial step.

Sickle Cell Disease Management Practices across Nigeria: A Cross-Sectional Analysis

Introduction Of 300,000 children born with sickle cell disease (SCD) in the world, approximately 75% of these are born in Sub-Saharan Africa. Owing to the frequent painful vaso-occlusive and hemolytic episodes associated with this disease, irreversible multi-organ damage and premature mortality are common. For instance, in Nigeria, 490 deaths per 1000 births among children under 5 have been attributed to SCD; this is four times higher compared to mortality in children born without SCD. On the other hand, those with SCD who survive beyond childhood are faced with an estimated life expectancy of 21 years. To address these challenges, guidelines for SCD management were developed by the Nigerian Federal Health Ministry, National Heart, Lung, and Blood Institute (NHLBI), and the American Society of Hematology but their dissemination and implementation has been difficult. To better understand current management practices, we present a preliminary, descriptive analysis of hydroxyurea and blood transfusion practices for sickle cell disease management across Nigeria. Methods Using a cross-sectional design, we collected demographic and practice-related information from eligible clinicians that provide SCD care in Nigeria. The “SCD Knowledge, Attitudes, and Practices - Nigeria” survey was disseminated to pediatric and adult consultant physicians, resident doctors, and nurses through their respective professional communication platforms. SCD-related practices questions were based on the NHLBI recommendations for SCD management which informed the Nigerian Federal Ministry's National SCD Guideline. A 5-point Likert scale was used to answer each question on hydroxyurea use and blood transfusion. Descriptive analyses of current practices were used to characterize these results and bivariate analyses were conducted using Chi-square or Fisher's test as appropriate. Data analysis was performed using SAS 9.4 (SAS Institute; Cary, NC). Ethical approval was obtained from Duke University Institutional Review Board and the University of Nigeria, College of Medicine Health Research Ethics Committee. Results Analysis of SCD-related practices from the first 73 participants who have completed the survey, revealed most respondents to be female (62%), between 35-65 years old (77%), and adult hematologists or nurses (37% and 40% respectively). This group of clinicians provide care mainly to adults (47%), but 45% admitted providing care to both adults and children. Nearly half (45%) of this group provides care for 0-5 individuals with SCD weekly and 57 participants (78%) work in tertiary-level hospitals. Only 22 of those working in tertiary hospitals had a comprehensive SCD center in their hospital compared to those without an SCD center (39% vs. 61%, p=0.0148). SCD experts were also found in tertiary-level hospitals (75% vs. 25%, p<0.0001). General hematologist expertise was also common in tertiary care (88% vs. 12%, p=0.2424). Figures 1 and 2 report HU and blood transfusion practices. Although 73% confirmed hydroxyurea (HU) prescribing and 90% endorsed the use of simple blood transfusions, HU and blood transfusion practices varied greatly. Respondents indicated most educated patients about HU (frequently/always = 74%) and started HU for patients with >3 VOCs in past year (frequently/always = 62%), however, only 31% frequently/always begin at age 9 months (Figure 1). Most respondents reported prophylactic blood transfusions to reduce HbS below 30% (frequently/always = 71%) and 73% frequently/always performed transfusions for acute SCD complications, yet, 60% indicated they never/rarely match for RBC antigens. Conclusion The data highlights SCD-related expertise and specialty care are found more in tertiary-level hospitals. HU practices described may be attributed to the more conservative approach suggested by the Nigerian SCD Management Guideline compared to the NHLBI recommendations, however there is an important opportunity to expand HU prescribing. Blood transfusion, which has historically been considered difficult in this differently resourced setting, was common. However, chelation, leukoreduction/white blood cell filtration, and red blood cell antigen testing were not common. These preliminary findings represent an opportunity for a larger study and future studies to investigate strategies to increase uptake of existing SCD management recommendations.

Associations between Sickle Cell Disease, Pica and Enuresis

Introduction: Sickle cell disease (SCD) is a genetic disorder that impacts the shape and functional capacity of red blood cells. Beyond altered cerebral perfusion, individuals with SCD have higher rates of neurodevelopmental disorders (NDDs), including attention deficit hyperactivity disorder (ADHD), intellectual disability, and specific learning disabilities. Past research has shown that in adolescent populations with either SCD or NDDs, pica, the act of eating non-food items, and enuresis, or involuntary urination, commonly occur. Both pica and enuresis are associated with biopsychosocial issues in typically developing children. However, the etiology of both of these disorders, as well as the confluence of NDDs and SCD on their occurrence, remains unclear. Hypothesis: The objective of this study was to determine the rates of pica and enuresis in a local pediatric SCD clinic and determine if these conditions present differently and/or have different associations in SCD than in the general population. We hypothesized that NDDs would serve as risk factors for both pica and enuresis with both conditions being associated with increased sickle cell severity. Methods: To test these hypotheses, we performed a retrospective chart review on 275 SCD patients. Using Epic, patients who at point visited either Kennedy Krieger Institute or John Hopkins Medical Center for SCD and were in an existing database were queried. Patients in the database ranged from 1 to 17 years old and were predominantly Black, non-Hispanic individuals. Primary keywords searched included: “enuresis, pica, bedwetting, diurnal, nocturnal, eating, non-food, peeing, urination, incontinence.” Results: Pica was reported in 9% (Table 1), while enuresis was reported in 27% of patient charts reviewed (Table 2). Both enuresis (Chi-squared test, p = 0.0050) and pica (Chi-squared test, p = 0.0190) were significantly linked to NDD occurrence, with pica being nearly three times as likely to occur alongside NDDs and/or enuresis. Notably, SCD patients with pica most commonly ate paper or wood, different from the general population with pica primarily eating rocks or dirt. Through the Wilcoxon rank sum test, we also noted no associations between pica and median hemoglobin (p=0.9572), ferritin (p=0.6209), iron serum (p=0.9500), total iron-binding capacity (p=0.1598), iron saturation (p=0.6292), or transferrin (p=0.1765) levels. Beyond this, our data also validate prior results demonstrating that enuresis is associated with both SCD type and hydroxyurea usage. There were no significant differences in rates of enuresis between males and females, unlike what is seen in the general population. Sleep apnea was associated with enuresis, at a higher rate than in the general population (Chi-squared post-hoc residual test, p = 0.0004). Patients with SCD and enuresis had higher mean reticulocyte counts and lower mean hemoglobin levels than patients with SCD without enuresis, consistent with increased hemolysis and worsening SCD severity. Conclusion: These results suggest etiologies for pica and enuresis in SCD patients may differ from the general population. As pica and enuresis commonly occur together with NDDs, there is a clear need for increased standardized screening for these conditions in clinics. Understanding why the risk factors for these conditions in SCD differ from the general population requires further investigation into their respective mechanisms of disease.

Prevalence of Duffy Null Status and Its Impact on Hydroxyurea Dosing in Young Children with Sickle Cell Disease in the United States

Background: Sickle cell disease (SCD) affects approximately 100,000 Americans and causes many morbidities mediated by inflammation. Hydroxyurea (HU), the primary SCD therapy, demonstrates superior outcomes with dose-escalation. While HU induces fetal hemoglobin, it also reduces absolute neutrophil counts (ANC) and inflammation. However, ANC is used to determine if HU can be dose-escalated. Thus, a lower baseline ANC has potential to limit dose escalation and outcomes. The Duffy null phenotype, ubiquitous among West Africans, reduces ANC through neutrophil egress from the blood into tissues.While this does not increase infection risk, its prevalence and impact on ANC, HU dosing, and outcomes among children with SCD in the U.S. are unknown. Thus, the primary objective of this study was to determine prevalence of Duffy null among children with SCD (any genotype) receiving care and who had erythrocyte phenotyping performed at a large, Midwestern SCD center between 2010-2022. We also aimed to compare baseline ANC of children with SCD and Duffy null and to children with SCD and Duffy positive phenotypes at their one-year hematology visit (overall and by genotype severity). Finally, in those who initiated HU, we aimed to compare ANC, HU dosing, and the frequency of acute healthcare utilization for SCD complications between groups during the first year of HU use. Methods: This was a retrospective study of children with SCD. Subjects were identified using a list of those who had phenotyping performed at the center and confirmed to have SCD in their electronic health records. Individuals with Fy a-Fy b- were considered to be Duffy null. Data abstracted included demographics (e.g., age, race) and laboratory studies (e.g., hemoglobin (Hb), ANC). HU prescribing information and emergency department and/or admissions among those who used HU for ≥1year were also recorded. Descriptive statistics (median and interquartile range (IQR)) were used and Chi-squared, Fisher's exact, and Wilcoxon rank sum were used to compare categorical and continuous groups; p-value <0.05 was considered statistically significant. Results: Of 187 children with SCD who had phenotyping; 147 (78.6%) had Duffy null (Table 1) and were compared to Duffy positive children with SCD (Figure 1). A subset of 72 children with Duffy null and 22 with Duffy positive initiated HU;59 with Duffy null and 15 with Duffy positive remained on HU for ≥1 year. Median HU doses at initiation (p=0.72) and at one year (p=0.35) did not significantly differ between groups. Median ANC at HU initiation was 4.0 mm 3 (IQR 3.3.-5.9) in the Duffy null group and 5.0 mm 3 (IQR 3.2-6.8) in the Duffy positive group but this difference was not significantly different (p=0.21), nor was median ANC at one year between groups (2.0 mm 3, IQR 1.9-4.2 vs. 3.7 mm 3, IQR 2.8-4.9, p=0.07). Median number of acute visits did not differ between the Duffy null (0, IQR 0-1) and Duffy positive (0, IQR 0-1) groups (p=0.65). Discussion: We identified that Duffy null, while not ubiquitous, was present in more than three fourths of young children with SCD in the Midwest and was associated with having a lower ANC at one year of life. Given that HU dose-escalation improves outcomes, it was reassuring that those with Duffy null on HU did not have a significantly lower ANC and were not prescribed lower dose HU than Duffy positive children at either point. However, it is notable that these may be because few children in both groups had ANC low enough to preclude HU initiation or escalation based on dosing guidelines and because acute visits were infrequent. Limitations include the retrospective design, small number of those who initiated and remained on HU for ≥1 year, and short time interval that clinical and laboratory outcomes were compared. Also, it is possible that some did not have phenotyping completed, but standard practice at our center is to complete phenotyping on all with SCD. In conclusion, Duffy null is highly prevalent in young children with SCD in the U.S. While this does not appear to have an impact on HU dosing of young children with SCD early in their HU course, subsequent longitudinal studies of older children are needed to explore if Duffy null has an impact on longer-term HU dosing and outcomes.

Addressing Reproductive Education Among Young Adults with Sickle Cell Disease (SCD): Sickle Cell Reproductive Outreach and Education (ROE) Project

Background: As children with sickle cell disease (SCD) survive into adulthood, it is important to address emerging reproductive health concerns. This population faces unique fertility challenges, including balancing the desire for biological parenthood, risk of pregnancy-associated complications, unintended pregnancy, and fertility concerns with the use of SCD modifying therapies (DMTs) (Smith-Whitley, Blood, 2014, Pecker, Br J Haematol, 2021) . Recent research identified knowledge gaps that impact reproductive care for adults with SCD (Carrithers, Frontiers, 2023). To overcome these gaps, we need to evaluate the baseline knowledge of young adults with SCD regarding reproduction to understand the complex implications of reproductive decision-making. This study was done to gauge young adults' knowledge of reproduction, understanding of fertility, and current reproductive behaviors in order to develop educational material to support young adults' with SCD reproductive decisions. Methods: This IRB-approved, cross-sectional study included young adults living with SCD (ages 18-35) from University of Alabama-Birmingham's Lifespan Comprehensive SCD Center. Patients were recruited during routine clinic visits to complete an electronic 33-question survey to evaluate reproductive health topics adapted from the Sisters Informing Sisters About AIDS (SISTA) questionnaire (CDC, 2008), including demographics (age separated into younger age (18-25) and older age (26-35), sexual health behaviors (contraception, sexually transmitted infection (STI) prevention), family planning, patient advocacy, and attitudes towards reproductive education. Responses were recorded as “Yes, No, Don't Know”, unless questions specifically asked for participants to choose an option. Attitudes toward reproductive education were graded on 5-point Likert scale (1= strongly disagree to 5=strongly agree). Data analysis includes averages to evaluate subgroup comparisons and independent student's t-test to compare subgroups with statistical significance set at p<0.05. Results: We enrolled 47 participants (55% women and 51% were of older age). In this cohort, 87% completed high school and 60% were sexually active. Among those who were sexually active, 86% had previously undergone STI testing and 36% had prior history of STI (22% men vs. 77% women, 22% younger age vs. 77% older age, p<0.05). Thirty-eight percent identified personal or partner contraceptive use. Regarding children, 19% had birthed/fathered a child(ren) (55% men vs. 45% women, 22% younger age vs. 77% older age, p>0.005) among whom 11% knew their child had SCD, 55% knew their child had sickle cell trait (SCT), and 33% did not know if their child had SCD/SCT. Only 26% were aware of contraceptive options for people with SCD (17% men vs. 83% women, p<0.05). Importantly, 89% recognized high risk sexual activity as a risk factor for STIs but no one in the cohort recognized the risk of infertility due to STIs. When asking about their partners, 32% knew if their partner had SCD/SCT (20% men vs. 80% women, p<0.05). Notably, 79% desired biologic children. Among those who desired children, 41% felt that their SCD changed their decision to have children and 26% were previously told they could not have children due to SCD (12% men vs. 88% women, 25% younger age vs. 75% older age, p<0.05). Notably, 57% were interested in conceiving if pregnancy was planned (41% men vs. 59% women, 37% younger age vs. 63% older age, p<0.05). When asked if patients wanted to discuss their reproductive health, 87% wanted to discuss this with their hematologist but only 51% would discuss this with PCPs. Conclusion: In this study, we identified evaluated 4 tenets of reproductive health knowledge: contraceptive use, STI prevention, family planning, and patient advocacy. We identified gaps in knowledge in these areas that can be addressed to improve reproductive education in young adults with SCD. Young adults with SCD in our cohort have low contraceptive use and were often not aware of contraceptive options for people with SCD or their partner's SCD/SCT status. Our cohort also reported a significant history of STI but was unaware of the associated increasing risk for infertility. Importantly. young adults are especially interested in discussing reproductive health with their hematologists, which provides an opportunity to improve reproductive education within this unique population.

Understanding Gaps in Current Practices of Newborn Screening Follow-up for Sickle Cell Disease in the United States

Introduction: Newborn screening (NBS) for sickle cell disease (SCD) has significantly improved childhood survival. However, gaps remain in follow-up after NBS as demonstrated by poor implementation of penicillin prophylaxis and stroke risk (TCD) screening. It is unknown how time to initial engagement with SCD specialist may impact long-term patient engagement. Currently, there are no standardized follow-up requirements for NBS across the United States; each state can decide how they inform families of diagnoses and initiate follow-up. The average time to the initial follow-up with a SCD specialist is not currently evaluated as a measure of quality assurance. Semi-structured interviews were conducted with 19 participants across 11 states to explore NBS processes. Participants included health care providers (n = 7), and stakeholders (NBS health department employees and community based SCD organization representatives (CBO); (n = 12). Data were analyzed using directed content analysis, informed by the SCD care continuum model, which outlines how newborns with SCD should proceed from diagnosis to initial and ongoing care engagement with a SCD provider. We examined how families were informed of abnormal results, how newly-diagnosed children were referred to SCD specialists, and when cases were closed. Results Representatives from 11 states including AL, AK, CA, GA, LA, MI, MS, MO, NY, SC, TN were included in this study (Table 1). Initial Notification: In all 11 states, the physician of record (on the NBS bloodspot card) is notified of abnormal results and expected to communicate results to families. This physician of record is not necessarily the child's actual pediatrician. In 2 states, a letter is sent to families at the same time as physicians are notified, but the letter does not convey screening results. In 1 state, the CBO NBS coordinator is responsible for communicating results to the family. Referral to a SCD specialist: There was substantial variability in referral practices. In most states, infants with positive SCD screens were referred to a SCD specialist by the pediatrician. In some states, the public health department refers infants with positive screens directly to the SCD center. In 2 states, the decision to refer an infant to a SCD center is left to the family, NBS coordinator or CBO. Timing of first visit: Most states intend infants with positive SCD screens to follow-up with the SCD clinic in < 2 months; however, some states do not require the initial visit until 6 months. Notably, most states do not track whether children with a positive SCD screen ever see a SCD specialist, Instead, cases are closed once the physician of record is informed. Facilitators and Barriers: The most common facilitators for communicating NBS results were having the correct physician of record on the blood spot card, the physician's knowledge of SCD, or the use of state-based immunization databases to track children with missing demographic information. Key facilitators for linkage to care included partnerships with SCD CBOs and/or having designated NBS follow up coordinators that offer ongoing family education and appointment reminders. Other facilitators included families with extended support and those who already had a child with SCD. The most common barriers to communicating NBS results were difficulty locating or reaching families, families moving out of state, insufficient contact information, and/or having the wrong physician of record. The main barriers to linkage to care included lack of insurance, lack of transportation, families who have difficulty accepting the SCD diagnosis, immigrant or refugee families with language barriers and other conflicting social/life demands. Conclusion The results of our study demonstrate wide variability in NBS follow-up for SCD with limited quality assurance to ensure newborns see a SCD specialist. These findings indicate a large multi-level intervention trial is needed to identify best practices for systematic improvement in NBS follow up process and ensure all infants are seen by a SCD specialist.

Associated Factors of Cholelithiasis among Younger Children with Sickle Cell Disease at the National Reference Center for Sickle Cell Disease in Brazzaville, Congo.

Chronic hemolysis predisposes sickle cell patients to the development of gallstones. Their frequency increases with age, but they may appear early in young children. In the absence of management, they expose the patient to complications that can hinder the quality of life and sometimes even death. This survey aimed to identify the associated factors of the occurrence of cholelithiasis. It was a case-control study carried out between January 2017 and June 2022 at the National Reference Center for Sickle Cell Disease (SCD) "Antoinette Sassou N'guesso" in Brazzaville. It concerned 37 children with cholelithiasis. Sociodemographic (socioeconomic status and diet) and clinical (body mass index, frequency of vasoocclusive crises and hospitalization for vasoocclusive crises, number of blood transfusion, and chronic complications) as well as hematological examination (type of SCD and blood count in the intercritical period) and hydroxyurea treatment were compared with those of 74 children with no clinical and radiographic signs of cholelithiasis. The chi-squared statistical test and the odds ratio were used for the comparison (p < 0.05). The average age was 9.70 ± 1.73 years. The 10-12 age group was the most represented (22 cases or 59.45%), followed by 7- to 9-year-olds (12 cases or 32.43%). Three children (8.10%) were 6 years old. The sex ratio was 0.68 vs. 1.38. Factors associated with cholelithiasis were low socioeconomic status (83.78% vs. 45.95%; IC 95% 1.46-3.89; p ≤ 0.001), a higher number of blood transfusions (5.54 ± 1.22 vs. 2.46 ± 1.13; IC 95% 1.55-6.70; p ≤ 0.001), and irregular systematic monitoring (5.54 ± 1.22 vs. 2.46 ± 1.13; IC 95% 1.55-6.70; p ≤ 0.001). A national strategy to facilitate access to care for patients living with sickle cell disease is imperative. Moreover, emphasis should be placed on the prevention and early management of acute complications of SCD.

"The Patient Should Have a Choice": Adults with Sickle Cell Disease Advise Integration of Telemedicine into the Comprehensive Sickle Cell Disease Care Model.

Adults with sickle cell disease (SCD) constitute a unique and vulnerable patient population with complex healthcare needs including routine follow-up visits and acute care evaluations. The COVID-19 pandemic accelerated healthcare systems' transition to providing telemedicine care. The purpose of this qualitative study was to elicit the perspectives of adults with SCD about their experience with telemedicine during the COVID-19 pandemic and to understand their preferences with respect to future telemedicine care. Adults with SCD who had a telemedicine visit between March August 2020 and were cared for at our SCD center were eligible to participate in a one-time interview. Interviews were audio taped, transcribed, and analyzed using NVIVO software. Among 30 interviewed subjects, 28 transcripts were available for analysis. Analysis identified that participants compared telemedicine to in-person care across several domains including (a) how time is used, (b) personal safety, (c) pain management, and (d) maintaining caring relationships. Participants agreed that telemedicine care was most appropriate for follow-up care and less useful for painful crises or urgent needs. They expressed concerns about the need to expand telemedicine to other specialities and to ensure that privacy and technical support are provided. Telemedicine appeals to adults with SCD for maintenance SCD care. Decisions about in-person or telemedicine care need to be made in discussion with the patient with particular attention to pain management preferences. Ultimately, telemedicine is an option that adults with SCD would like to see continue and that has the potential to expand access to care to more geographically distant regions.

Education Liaison improves implementation of school accommodations for students with sickle cell disease.

Children with sickle cell disease (SCD) have lower academic attainment than healthy peers. Many benefit from neuropsychological testing (NPT) and educational accommodations, including Individualized Education Programs (IEPs) and Section 504 plans (504s). Despite medical barriers to academic attainment, many children with SCD do not receive indicated NPT or accommodations. We hypothesize that a dedicated Education Liaison (EL) embedded in the SCD team increases implementation of NPT and accommodations. This retrospective study included children aged 5-20years with SCD receiving care at a single center from 2017 through 2020. Univariate analysis and multiple logistic regression were performed. Total 316 children with SCD were included. At baseline, 52.8% had accommodations (IEP: 24.4%, 504: 38.0%). The EL interacted with 62.0% of children. Children with EL contact were more likely to undergo NPT (odds ratio [OR]: 5.385), have an IEP (OR: 4.580), and have a 504 (OR: 2.038) (p<.001 for all). At the end of the study period, 64.6% had accommodations (IEP: 33.5%, 504: 54.4%), which increased from baseline (p<.001 for all). EL interaction was associated with overt or silent stroke history (OR: 1.911), acute chest syndrome history (OR: 2.257), hospitalizations since age 5 (OR: 3.216), and hospitalization for vaso-occlusive pain since age 5 (OR: 2.226) (p<.001 for all). EL interaction improves access to NPT and educational accommodations among children with SCD. SCD centers should incorporate ELs in comprehensive care teams to improve access to appropriate educational accommodations.

Knowledge of fertility and perception of fertility treatment among adults with sickle cell disease (KNOW FERTILITY).

This study assessed fertility knowledge in adults with sickle cell disease using the Cardiff Fertility Knowledge Scale and Fertility Treatment Perception Survey and compared knowledge scores in respondents with sickle cell disease to previously reported unaffected cohorts. This cross-sectional study surveyed adults over age 18 with sickle cell disease at an adult sickle cell disease center using a 35-question survey addressing infertility risk factor knowledge and perceptions of fertility treatment. Analyses included summary statistics for continuous and categorical variables, univariate linear regression, and Mann-Whitney U tests for group comparisons of Fertility Knowledge Scale scores. Fertility Treatment Perception Survey scores were measured by medians of the two positive statements and four negative statements to generate separate positive and negative treatment belief scores. Statistical significance was set at p < 0.05 for all analyses. Ninety-two respondents (71 female, 21 male) with median age of 32 years (IQR: 25.0, 42.5) completed the survey between October 2020-May 2021. Sixty-five percent of respondents reported taking sickle cell disease treatment and 18% reported refusing at least one sickle cell disease treatment due to fertility concerns. The mean Fertility Knowledge Score was 49% (SD: 5.2), lower than reported in an international cohort (57% vs. 49%, p = 0.001), and higher than in a cohort of reproductive-aged Black women in the USA (49% vs. 38%, p = 0.001). Less than 50% of respondents correctly identified common infertility risk factors including sexually transmitted infections, advanced age, and obesity. Mean positive fertility perception score was 3 (IQR 3, 4), and negative fertility perception score was 3.5 (IQR 3, 4). Factors associated with agreement with negative fertility perception statements included: trying to conceive, refusing sickle cell disease treatment, and undergoing fertility treatment. Opportunities exist to improve knowledge of infertility risk factors among adults with sickle cell disease. This study raises the possibility that nearly one in five adults with sickle cell disease refuse SCD treatment or cure due to infertility concerns. Education about common infertility risks factors needs to be addressed alongside disease- and treatment- associated fertility risks.

Understanding caregiver burden with accessing sickle cell care in the Midwest and their perspective on telemedicine

BackgroundSurvival for children with sickle cell disease (SCD) has improved significantly. However, patients with SCD still encounter several impediments to accessing adequate healthcare. Rural and medically underserved areas, such as parts of the Midwest, can exacerbate these barriers, separating children with SCD from subspecialists even further. Telemedicine has been a means to close these gaps in care for children with other special healthcare needs, but few studies have discussed how caregivers of children with SCD perceive its use.MethodsThe objective of this study is to understand the experiences of caregivers of pediatric SCD patients in a geographically diverse area in the Midwest in accessing care, and their perspectives of telemedicine. Caregivers of children with SCD completed an 88-item survey via a secured REDCap link either in-person or via secure text. Descriptive statistics (means, medians, ranges, frequencies) were performed for all responses. Univariate chi square tests were performed to analyze associations, particularly with telemedicine responses.ResultsThe survey was completed by 101 caregivers. Nearly 20% of families traveled more than 1 hour to reach the comprehensive SCD center. Other than their SCD provider, caregivers reported their child having at least 2 other healthcare providers. Most barriers caregivers identified were financial or resource based. Almost a quarter of caregivers expressed feeling as though these barriers impacted their and/or their child’s mental health. Ease of access to team members, as well as scheduling, were common facilitators of care cited by caregivers. The majority were willing to participate in telemedicine visits, regardless of how far they lived from the SCD center, though many noted aspects requiring adaptation.ConclusionThis cross-sectional study describes barriers to care experienced by caregivers of children with SCD, regardless of proximity to an SCD center, as well as caregiver perceptions of the usefulness and acceptability of telemedicine for SCD care.

Risk Factors of avascular Osteonecrosis of the Femoral Head in Children at the National Reference Center for Sickle Cell Disease in Brazzaville, Congo

Introduction: The avascular osteonecrosis of the femoral head (AOFH) is a common complication of sickle cell disease (SCD). It exposes to lameness and sometimes to a very debilitating handicap. It is a source of desocialization, particularly in developing countries where prosthetic surgery remains inaccessible to the majority. This survey aimed to identify the risk of occurence AOFH.&#x0D; Materials and Methods: It was a case-control study carried between october 2017 and september 2021 at the National Reference Center for SCD « Antoinette Sassou Nguesso » in Brazzaville. It concerned 31 children with clinical and radiographic signs of AOFH. Clinical (age at diagnosis of SCD, frequency of vasoocclusive crises and hospitalization for vasoocclusive crises, number of blood transfusion) as well as hematological examination (blood count in the intercritical period) and hydroxyurea treatment were compared with those of 62 children with no clinical and radiographic signs of AOFH. The chi2 statistical test and the odds ratio were used for the comparison (P ˂ 0.05).&#x0D; Results: The sex ratio was 1.38 versus 0.93 (p = 0.50). The mean age of diagnostic of SCD was 3.76 ± 2.56 years versus 3.94 ± 2.01 years (p = 0.81). Logistic regression showed that SCD children with AOFH had a significantly higher rate of annual frequency of VOC (4.16 ± 1.18 vs 2.91 ± 1.68; P = 0.015), annual frequency of hospitalization for VOC (3.74±1.65 vs 1.45 ± 1.28; P = 0.000) and number of blood transfusions (3.38 ± 2.69 vs 2.42 ± 2.32; P = 0.03).&#x0D; Conclusion: Emphasis should be placed on the prevention and early management of acute complications of SCD. The role of hydroxyurea should be clarified by further work.