Training young adults as community health workers specializing in pediatric to adult health care transition to support emerging adults with sickle cell disease.

Background: Transition to adulthood is a vulnerable time for emerging adults (16-25 years of age) with sickle cell disease (SCD), as there is a seven-fold increase in mortality rates during the transition period. Emerging adults with SCD also have the highest rates of hospitalizations, emergency room visits, and hospital readmissions compared to other age groups. Community health worker (CHW) programs have been developed to address outcomes such as patient activation which includes an individual's knowledge, skill, and confidence for managing one's health and healthcare, quality of life, and healthcare utilization for patients with chronic illnesses.

Development of the iManage SCD mobile health application for transition.

Objective: This paper outlines the design and implementation of iManage SCD, a self-management mobile health application for adolescents and young adults (AYA) with sickle cell disease (SCD) during transition from pediatric to adult health care.

Methods: The Integrate, Design, Assess, Share (IDEAS) framework, emphasizing user insights, iterative design, rigorous assessment, and knowledge sharing, guided the development process. The design team consisted of researchers, psychologists, physicians, social workers, AYA with SCD, and parents of AYA with SCD (n = 16) across three states.

Assessing multilevel barriers to hydroxyurea adherence in youth with sickle cell disease using pharmacy-based refill records.

Background: Suboptimal medication adherence is common across youth with chronic health conditions and may contribute to health disparities and adverse health outcomes, especially in underserved communities.

Methods: Using pharmacy prescription records and guided by the World Health Organization Multidimensional Adherence Model, we examined patient-, treatment-, and health system-related factors that may affect hydroxyurea adherence in 72 youth with sickle cell disease (SCD), 10-18 years who had participated in the multisite "Hydroxyurea Adherence for Personal Best in SCD" (HABIT) feasibility (6 months) and efficacy (12 months) trials. Pharmacy data were collected from the year prior to study entry through the duration of each trial.

The pervasive influence of systems of power on transition readiness for adult care in sickle cell disease: A qualitative study.

Background: Adolescence and young adulthood are vulnerable developmental periods for individuals with sickle cell disease (SCD), particularly given the impact of social inequities, challenges with transitioning to adult healthcare services, and increased risk for morbidity and mortality. Systems of power, such as institutionalized and interpersonal manifestations of bias, could impact SCD transfer and engagement in adult care through their influence on healthcare transition readiness; yet research in this area is limited.

Objective: To characterize how systems of power impact transition readiness factors described in the Social-ecological Model of AYA Readiness for Transition to Promote Health Equity (SMART-E) framework at the patient, caregiver, and practitioner levels.

Hydroxyurea Adherence for Personal Best in Sickle Cell Treatment (HABIT) efficacy trial: Community health worker support may increase hydroxyurea adherence of youth with sickle cell disease.

Despite disease-modifying effects of hydroxyurea on sickle cell disease (SCD), poor adherence among affected youth commonly impedes treatment impact. Following our prior feasibility trial, the "Hydroxyurea Adherence for Personal Best in Sickle Cell Treatment (HABIT)" multi-site randomized controlled efficacy trial aimed to increase hydroxyurea adherence for youth with SCD ages 10-18 years. Impaired adherence was identified primarily through flagging hydroxyurea-induced fetal hemoglobin (HbF) levels compared to prior highest treatment-related HbF.

An Updated Equitable Model of Readiness for Transition to Adult Care: Content Validation in Young People With Sickle Cell Disease.

Importance: Despite elevated health risks during young adulthood, many adolescents and young adults with serious health care needs face barriers during the transfer to an adult specialty practitioner, and health disparities may occur during the transition.

Objective: To validate the content of an updated Social-Ecological Model of Adolescent and Young Adult Readiness for Transition to Promote Health Equity (SMART-E) in a group of adolescents and young adults with sickle cell disease (SCD) and their supports.

Design, Setting, And Participants: Health equity framework components were reviewed.

Cognition and education benefits of increased hemoglobin and blood oxygenation in children with sickle cell disease.

Background: Among individuals with sickle cell disease (SCD), decreased hemoglobin is associated with lower oxygen saturation (SpO2) and increased risk of stroke, both of which are associated with lower intelligence quotient (IQ) scores. Thus, increasing hemoglobin and SpO2 in individuals with SCD may increase IQ and educational attainment.

Methods: A cohort simulation model was built to determine academic performance and educational attainment based on cognitive function (measured by IQ) of a pediatric SCD cohort randomly assigned to treatment and control groups.

Psychologists as leaders in equitable science: Applications of antiracism and community participatory strategies in a pediatric behavioral medicine clinical trial.

Psychologists have an ethical responsibility to advance health equity and can play a significant role in improving health care experiences for families racialized as Black, including those with sickle cell disease (SCD), a group of genetic blood disorders primarily affecting communities of color. Parents of children with SCD report experiences of stigma and discrimination due to racism in the health care system. The current commentary describes the application of antiracism and participatory strategies to the research design, implementation, and dissemination of a behavioral medicine clinical trial (Engage-HU; NCT03442114) of shared decision-making (SDM) for pediatric patients with SCD, including (a) the development of a research question to promote justice for racialized groups; (b) a focus on "redressing imbalances" through SDM and a multidisciplinary, inclusive research team led by a Black psychologist; (c) community participatory approaches through the integration of stakeholder feedback across the study; and (d) centering context by attending to structural realities in response to the COVID-19 and racism pandemics.

Consensus definition of essential, optimal, and suggested components of a pediatric sickle cell disease center.

Sickle cell disease (SCD) requires coordinated, specialized medical care for optimal outcomes. There are no United States (US) guidelines that define a pediatric comprehensive SCD program. We report a modified Delphi consensus-seeking process to determine essential, optimal, and suggested elements of a comprehensive pediatric SCD center.

Age- and sex-specific rates of gall bladder disease in children with sickle cell disease.

Background: Children with sickle cell disease (SCD) have an increased risk for gallstones due to chronic hyperbilirubinemia from hemolysis. Although gallstones are a known complication, there is variability in estimates of disease burden and uncertainty in the association between sex and gall bladder disease (GBD).

Methods: This was a retrospective cohort study of children with SCD using administrative claims data (January 1, 2014-December 31, 2018).

Pediatric hematology providers' contraceptive practices for female adolescents and young adults with sickle cell disease: A national survey.

Background: Adolescent and young adult (AYA) women with sickle cell disease (SCD) have increased pregnancy-related health risks and are prescribed potentially teratogenic medications, yet limited data are available regarding pediatric SCD provider contraceptive practices. We aimed to assess pediatric hematology providers' beliefs, practices, motivators, and barriers for providing contraceptive care to female AYAs with SCD.

Methods: Guided by the Health Belief Model (HBM), we developed a 25-question, web-based survey to assess practices.

Mental health assessment of youth with sickle cell disease and their primary caregivers during the COVID-19 pandemic.

Youth with sickle cell disease (SCD) and their caregivers are susceptible to stress and depression, perhaps exacerbated by pandemic-associated health and economic concerns. Most of the 50 youth-caregiver dyads enrolled in the multisite trial, Hydroxyurea Adherence for Personal Best in Sickle Cell Treatment (HABIT), took an online survey of self-reported mental health symptoms and food insecurity during the 2020 COVID-19 pandemic. Compared to largely pre-pandemic results, prevalence of mental health symptoms in dyad members appeared to have shifted: fewer youth and more caregivers were affected during the pandemic; many of both groups lacked optimism.

Safety and efficacy of voxelotor in pediatric patients with sickle cell disease aged 4 to 11 years.

Background: Sickle cell disease (SCD) is a devastating, multisystemic disorder that affects millions of people worldwide. The earliest clinical manifestations of SCD can affect infants as young as 6 months of age, and pediatric patients are at risk for acute and life-threatening complications. Early intervention with treatments that target the underlying pathophysiological mechanism of SCD, sickle hemoglobin (HbS) polymerization, are expected to slow disease progression and circumvent disease-associated morbidity and mortality.

Benefit of pulmonary subspecialty care for children with sickle cell disease and asthma.

Objective: Asthma is a recognized comorbidity in children with sickle cell disease (SCD). It increases the risk of acute chest syndrome (ACS), vaso-occlusive episodes, and early mortality. We aim to determine whether evaluation and management of children with SCD and asthma by a pulmonologist reduce rate of asthma exacerbation and ACS.

Splenic infarction in sickle cell trait: A comprehensive systematic review of case studies.

Sickle cell trait (SCT), a commonly asymptomatic condition, has many associated clinical complications that upon presentation, can be very difficult to attribute to SCT. The effects of SCT on the spleen, for example, are not completely understood, though there have been a number of case reports detailing related complications in diverse populations. Our objective was to perform the first comprehensive case report review of splenic infarction in SCT patients to highlight the relevance of this seemingly rare condition.

Contraceptive use and preferences among females with sickle cell disease.

Objectives: Females with sickle cell disease now have a life expectancy that extends well into and beyond their reproductive years. Pregnancy and childbirth are accompanied by high morbidity and mortality in this population, rendering contraception a critical part of their health care.

Study Design: We approached adult female patients of the Hospital of the University of Pennsylvania hematology clinic who were of reproductive age (ages 18-45) and carried a diagnosis of sickle cell disease.

Knowledge gaps in reproductive and sexual health in girls and women with sickle cell disease.

There is an immediate need to address long-standing questions about the reproductive health of girls and women with sickle cell disease (SCD). There are many SCD-related reproductive risks and uncertainties across girls' and women's reproductive life span, with particularly outstanding concerns about menstruation, contraception, fertility and pregnancy. Extant literature addressing women's reproductive health topics is mostly descriptive; there are few high-quality interventional studies.

Engaging Caregivers and Providers of Children With Sickle Cell Anemia in Shared Decision Making for Hydroxyurea: Protocol for a Multicenter Randomized Controlled Trial.

Background: Sickle cell anemia (SCA) is a genetic blood disorder that puts children at a risk of serious medical complications, early morbidity and mortality, and high health care utilization. Until recently, hydroxyurea was the only disease-modifying treatment for this life-threatening disease and has remained the only option for children younger than 5 years. Evidence-based guidelines recommend using a shared decision-making (SDM) approach for offering hydroxyurea to children with SCA (HbSS or HbS/β0 thalassemia) aged as early as 9 months.

Lentiviral vector ALS20 yields high hemoglobin levels with low genomic integrations for treatment of beta-globinopathies.

Ongoing clinical trials for treatment of beta-globinopathies by gene therapy involve the transfer of the beta-globin gene, which requires integration of three to four copies per genome in most target cells. This high proviral load may increase genome toxicity, potentially limiting the safety of this therapy and relegating its use to total body myeloablation. We hypothesized that introducing an additional hypersensitive site from the locus control region, the complete sequence of the second intron of the beta-globin gene, and the ankyrin insulator may enhance beta-globin expression.

Vitamin D Supplementation Improves Health-Related Quality of Life and Physical Performance in Children with Sickle Cell Disease and in Healthy Children.

Introduction: No study determined if vitamin D supplementation improves health-related quality of life (HRQL) using pediatric Patient-Reported Outcomes Measurement Information System or physical functioning in type SS sickle cell disease (HbSS).

Method: Subjects with HbSS (n = 21) and healthy subjects (n = 23) were randomized to daily oral doses (4,000 vs. 7,000 IU) of cholecalciferol (vitamin D) and evaluated at 6 and 12 weeks for changes in serum 25 hydroxyvitamin D (25(OH)D), HRQL, and physical functioning.

2'-O-methoxyethyl splice-switching oligos correct splicing from IVS2-745 β-thalassemia patient cells restoring HbA production and chain rebalance.

β-thalassemia is a disorder caused by altered hemoglobin protein synthesis and affects individuals worldwide. Severe forms of the disease, left untreated, can result in death before the age of 3 years (1). The standard of care consists of chronic and costly palliative treatment by blood transfusion combined with iron chelation.