HbS-Sicilian (<i>δβ</i>)⁰-Thalassemia: A Rare Variant of Sickle Cell

Sickle cell disease (SCD) is caused by a mutation in the sixth codon of the β-globin gene on chromosome 11, which leads to a single amino acid substitution (glutamine to valine). Sickle-(δβ)0-thalassemia is a rare variant of sickle cell disease (delta-beta thalassemia occurring in association with sickle hemoglobin, HbS), sparsely reported in literature, and has been associated with symptomatology necessitating careful monitoring and follow-up. We describe a patient who presented with a newborn screen reported as “FS” and a negative family history for sickle cell disease and sickle cell trait. Subsequent gene sequencing studies demonstrated the presence of Sickle-(δβ)0-thalassemia. Clinical course has remained relatively stable for this patient now at 18 months of age without any SCD related symptomatology or complications. As this is a rare variant of SCD with potential complications, it is important to establish diagnosis towards planning comprehensive care.</jats:p

Bilateral Burkitt Lymphoma of the Ovaries: A Report of a Case in a Child with Williams Syndrome

A 10-year-old female with Williams Syndrome (WS) presented with a two-month history of fatigue, weight loss, and bilateral ovarian masses. Histologic, immunophenotypic, and cytogenetic studies confirmed the diagnosis of Burkitt lymphoma (BL). While there is no established association between the two disorders, this is the third case in the literature of Burkitt lymphoma in a patient with Williams Syndrome

Aiming to Reduce Admissions and Also Re-Admissions in Pediatric Sickle Cell Disease: A Single Institutional Experience with Six Interventions

Abstract BACKGROUND AND OBJECTIVES Sickle Cell disease is an inherited blood disorder of the hemoglobin beta-globin protein in the red blood cells which results in significant risk for hospitalization. Since over 100,000 people in the USA have Sickle Cell Disease and recurrent hospitalizations occur; this constitutes a significant disease burden that are not only costly, but also contribute to loss of income, learned helplessness, additional immense morbidities and psychosocial stressors. Readmission within 30 days after hospitalization for sickle cell crises was developed at the National Association of Children's Hospitals (NACHRI) as a measurable benchmark to improve hospital quality. The NACHRI, multi state study of sickle cell disease care utilization found an overall readmission rate of 33.4% with lower rates in children (12.8% in children age1-9 and 23.4% for patients ages 10-17). At our institution, we implemented several interventions to reduce the readmission rate for sickle cell pain crises and will share results and insights. INTERVENTIONS The following interventions were employed: a) services of a sickle cell coordinator to co-ordinate clinic visits and patient care b) provide additional standardized teaching on sickle cell care via direct interactions with caregivers, provision of educational materials and organization of a sickle cell awareness conference c) verbal discussions to improve understanding and compliance with a written sickle cell action plan, d) obtaining more frequent parental approval for hydroxyurea therapy, e) increasing tracking immunization rates (influenza), and f) 24hr/72hr discharge telephone call. The sickle cell team comprising of physicians, nurse practitioners, care coordinator, nurses and social worker actively participated in implementing these steps, and majority of the interventions took place in the outpatient setting. RESULTS We reviewed sickle cell admissions and readmissions in 2014 and 2015 in patient's age 0-26 years. Mean age of patients was16.8year (N= 14 Standard deviation = 8.04). Pre-intervention in 2014 there were 91 admissions with 14/91 re-admissions (15.4%). After beginning implementation of interventions in 2015 there were not only 59% fewer admissions (63), but also 58% fewer readmissions (6 re admit/63 discharges = 9.5%). Thus our interventions affected both admission rate and readmission rates. CONCLUSION Sickle cell admissions and subsequent readmissions continue to be a major challenge in successful management of young people with sickle cell disease. Our interventions may help abate some of the hospitalizations and re-admissions as shown by an approximately 40% reduction rate. Although there is undoubtedly much room for additional progress in this area, we have made a good start towards improving our sickle cell population's health. Disclosures No relevant conflicts of interest to declare. </jats:sec

Effect of COVID-19 Pandemic on Well Child Care and Vaccination

ObjectivesThe COVID-19 virus is highly contagious primarily via aerosol transmission and has a high mortality rate. On March 13, 2020, the United States declared a national emergency in response to the COVID-19 pandemic. This study aims to enumerate the effect of the pandemic on vaccination rates during the COVID-19 lockdown and the aftermath in pediatric patients aged 6weeks-6 years.Study DesignA retrospective review of medical records was performed of missed well childcare visits at MetroHealth from March 1, 2020 to June 30, 2020. The sample size of 400 children aged 6 weeks to 6 years were randomly selected. Demographic data, number of calls made to attempt, scheduled WCC, no show rates for clinic appointments, number of missed WCC, location of MH facility, insurance type, vaccination status prior to the pandemic were collected. Statistical analysis was performed with SPSS software (IBM Corp. Released 2020. IBM SPSS Statistics for Windows, Version 27.0. Armonk, NY: IBM Corp).ResultsFrom this descriptive study, we found that 43.5% of patients were not up to date on their childhood vaccination. The mean age was 24.38 months (SD 20.15). There were slightly more males (52.8%) in the study than females (47.3%) and most children were of African American descent. More than 50% of patients missed a scheduled well child appointment and 27% had a missed at least two consecutive appointments.ConclusionThe COVID-19 pandemic has no doubt made a significant mark on health care; the effects would be both immediate and delayed, with vulnerable population being the most impacted. There is an urgent need to prevent a large-scale health disaster of catastrophic potential that could occur if an effective vaccination strategy is not implemented rapidly.</jats:sec

Impact of SARS‐CoV‐2 infection on pain crisis and acute chest syndrome in patients with sickle cell anemia: A retrospective multi‐cohort study based on US national data from 2020 to 2022

Abstract COVID‐19 infection has been a significant contributor to global morbidity and mortality, especially among those patients with chronic diseases. The Centers for Disease Control and Prevention have classified sickle cell disease (SCD) as a condition that increases the risk of severe illness from COVID‐19 infection. A retrospective study was conducted using the TRiNetX health research network database to identify SCA patients ( HbSS, Sbeta‐thalassemia zero) who had SARS‐CoV‐2 infection over 2 years; these were compared with similar patients who did not have the infection in terms of demographics, pain control, and laboratory parameters COVID‐19 illness impacts [ain crises and ACS, and prior vaccination against influenza and COVID‐19 may represent a protective factor for developing pain crises

Pediatric Hematologists' Clinical Practices and Perspectives of Hematopoietic Cell Transplantation As a Treatment Option for Sickle Cell Disease

Abstract Introduction: Beginning early in childhood, patients with sickle cell disease (SCD) are at risk of life-threatening and debilitating health events. Despite the high morbidity and mortality of this disease, hematopoietic cell transplantation (HCT), the only curative therapy for SCD, remains underutilized. Multiple factors, both patient and provider related, may contribute to the low rates of HCT in this population. Clinician attitudes are an important factor to consider when evaluating the uptake of medical interventions. There is a paucity of data concerning hematologists' attitudes about HCT as a treatment for SCD, and the impact of these attitudes on clinical practices relating to this therapy. Objectives: To identify pediatric hematologists' attitudes regarding HCT as a treatment for SCD, and to determine the relationship between clinician attitudes about this therapy and clinical practices of discussing HCT with the families of children with SCD. Methods: A nationwide web-based survey of pediatric hematologists/oncologists was conducted February-May 2016. Current fellows and graduates of pediatric hematology/oncology fellowships in the United States (US) were eligible to participate. The 36-question survey was distributed via web links, which were emailed to a listserv compiled from the American Society of Pediatric Hematology/Oncology (ASPHO) membership roster (N=1149), and to program coordinators at 70 pediatric hematology/oncology fellowship programs across the US. Participation was incentivized Multivariable linear and logistic regressions were performed to assess the relationship between clinician attitudes about HCT as a treatment for SCD and clinical practices of informing families about HCT. Results: 312 pediatric hematologists/oncologists (260 attending physicians, 52 fellows) participated in the survey (~20% response rate). 297 surveys were included in the analysis. 96% currently provide care for pediatric patients with SCD, or did so in the past (N=284). On average, respondents discuss HCT with 42% of families of children with SCD (N=249, 95% CI: 37.5-45.8), and typically first inform families about HCT: during the initial encounter (15%, N=39), within a certain time frame after establishing care (25%, N=65), by a certain patient age (5%, N=13), after the patient has passed a certain threshold of disease severity (46%, N=121), or typically don't, unless the patient/family brings it up (9%, N=24). University-based practice and agreement with the statement "the cost of HCT to the family is too high to justify its use in most children with SCD" and "the risk of mortality from HCT is too high to justify its use in most children with SCD" were associated with informing a lower proportion of families about HCT. Caring for a higher percentage of patients with SCD and personally performing HCT were associated with informing a higher proportion of families about HCT. Agreement with the statement "the risk of mortality from HCT is too high to justify its use in most children with SCD" and "the cost of HCT to the system is too high to justify its use in most children with SCD" was associated with a higher likelihood of first informing families about HCT after patients have passed a certain threshold of disease severity. Community-based practice setting and caring for a higher percentage of patients with SCD were associated with a lower likelihood of first informing families about HCT after patients have passed a certain threshold of disease severity. Conclusions: There is considerable variability in pediatric hematologists' practices of informing families of children with SCD about HCT as a treatment option. Data from this nationwide survey suggest that clinician attitudes about HCT as a treatment for SCD may impact timing as well as likelihood of discussing this treatment. Establishment of guidelines regarding parent/guardian education about HCT may enhance practice uniformity and increase awareness of this treatment in the pediatric SCD population. Disclosures Piccone: Novartis: Other: Speaker. </jats:sec