Susan E. Creary

Sickle cell disease (SCD) encompasses a spectrum of genotypes, most commonly Hemoglobin (Hgb)SS and HgbSC. Diastolic dysfunction (DD) is common in SCD and impacts morbidity and mortality. We sought to evaluate if the rates of DD differed by SCD genotype and by hydroxyurea (HU) use among youths. This was a retrospective study of patients with HgbSS and HgbSC who received an echocardiogram, stratifying genotype and HU use. DD was assessed using mitral valve (MV) E/A ratio < 0.8 or > 2, septal E’ < 7 cm/s, lateral E’ 10; and LA: Aortic root (LA: Ao) ratio > 1.3:1. DD was defined as a diastolic aggregate score ≥ 2 of 5. Multivariable regression models adjusted for age were used to estimate the associations of DD with HU use by genotype. 39% of youth with SCD who had an echocardiogram had DD. DD rates were lower in those on HU ( n = 102, 36%) vs. those not on HU ( n = 94, 41%). Adjusting for age, youths with HgbSS on HU had lower odds of DD compared to those not on HU, OR 0.22 [95% CI (0.07, 0.59), p = 0.004]. Conversely, youth with HgbSC on HU had slightly increased odds of DD compared to those not on HU, OR 1.36 [95% CI (0.35, 4.98) p = 0.6]. In contrast to previous studies suggesting HU has no impact in reducing DD over time, our study showed DD was less common among patients with HgbSS on HU. Larger, prospective, multi-center studies are needed to assess longitudinal improvement of DD from baseline for SCD patients on HU.

Sickle cell disease (SCD) and iron deficiency (ID) cause anemia and cognitive deficits. The frequency of ID among youth with SCD (Y‐SCD) remains unclear because screening has not been standard. Using clinically obtained ferritin results, we identified that ≥9% of Y‐SCD at our center may have ID. Those with ID were often >5 years old, premenarche, and male and had a mean corpuscular volume that was, on average, 7.3 fL lower than iron‐replete Y‐SCD ( p < 0.001). These findings suggest ID screening is indicated among Y‐SCD. Studies are needed to determine mechanisms and whether normalizing iron stores improves outcomes.

Respiratory syncytial virus (RSV) imposes substantial risk to all infants, but its impact on youth with SCD (Y‐SCD) is underexplored. With newer, highly effective RSV monoclonal antibodies (RSV‐mAb), research is needed to inform their use in Y‐SCD. This single‐center study of Y‐SCD aged 0–21 years identified 667 hospitalizations that included RSV testing. Of these, 5% were positive for RSV, and 68% occurred in Y‐SCD beyond their first RSV season. Intensive care, positive pressure ventilation, and transfusion were required in 21%, 32%, and 21% of hospitalizations, respectively. Findings indicate that multicenter studies are warranted to determine if RSV‐mAbs improve outcomes in Y‐SCD.

Prescription and claims data indicate that hydroxyurea (HU) adherence is low among youth with sickle cell disease (SCD). Electronic monitors (EM) are a gold standard measure, yet existing models have significant drawbacks that limit their use in youth with SCD. We developed a small, cellular-connected EM that is compatible with both liquid and capsule HU formulation bottles. In testing this EM among a sample of adolescents and young adults and caregivers of young children with SCD, we found that the EM is feasible and acceptable among youth with SCD and caregivers of young children with SCD in the short-term. We also found that the EM are useful for determining HU adherence and gained user insights that may improve their use longer-term. Future studies should examine the EM ability to determine which youth with SCD could most benefit from HU adherence intervention and treatment escalation in those with optimized adherence.

Purpose: The study aimed to identify factors influencing family-building perspectives among adults with sickle cell disease (SCD) overall and by sex, and to examine attitudes toward discussing SCD genetic transmission with partners and doctors by sex and relationship status. Methods: We conducted a secondary analysis of survey data from 91 adults with SCD (aged 21–39) receiving care at The Ohio State University Wexner Medical Center. Participants completed a survey assessing their sociodemographic information, factors influencing family-building perspectives, and attitudes regarding SCD genetic transmission. Inductive content analysis identified themes in open-ended survey responses. Descriptive statistics summarized quantitative data, and chi-square tests analyzed differences by sex and relationship status. Results: Five themes emerged: 1) concerns about personal health and pregnancy, reported primarily by females; 2) lack of resources (i.e., finances and familial support); 3) concerns about genetic transmission; 4) desire for a large family; and 5) indifference or low desire for children. Most participants reported being comfortable discussing SCD with partners (86%) and doctors (89%), with no differences by sex or relationship status. Among dating/partnered individuals, 65% reported their partner did not know their sickle cell trait status. Forty-five percent of participants received SCD genetic counseling, and 12% of those reported it influenced their family-building perspectives. Conclusions: Family-building perspectives in adults with SCD may be influenced by multiple factors such as personal health, lack of resources, and concerns for genetic transmission. Further research to understand how to optimize counseling practices is crucial to allow individuals with SCD to achieve their family-building goals.

Introduction: Sickle cell disease (SCD) is an autosomal recessive blood disorder that impacts about 100,000 Americans. With increasing life expectancy and more people with SCD reaching reproductive age, there is growing evidence that SCD and some of its therapies decrease fertility. While partner testing and assisted reproductive technology (ART) can enable people with SCD to choose if and how to have biological children, their use remains limited. In this study, we aimed to explore how people with SCD understand the potential fertility implications of SCD and their perceptions of partner testing and ART. Methods: We recruited adults with SCD ages 18–35 years old who self-identified as being interested in having a biological child in the future and conducted semi-structured individual interviews to discuss previous experiences and perceptions regarding family building planning. Interviews were transcribed and thematically analyzed using inductive coding and the social ecological model. Results: We completed 11 interviews with 9 women and 2 men (mean age 30.6 years old, 100% Black or African American). We identified five themes that reached saturation: 1) Providers gave limited support for family building planning; 2) Female participants had a lack of understanding what pregnancy would be like with SCD; 3) Participants felt their partners did not equally share the burden of family building planning; 4) Potential financial burden prevented participants from seriously considering ART; and 5) Participants wanted earlier and frequent discussions with their providers about family building options. Participants identified factors that impacted their family building plans, which fit across the social ecological model. Discussion: Adults with SCD desire further education on the impact of SCD and its treatments on fertility as well as support in their reproductive planning through early, frequent conversations about family building options. Additionally, financial barriers to ART such as insurance coverage must be addressed for adults with SCD.

Suicidal ideation (SI) and suicidal attempt (SA) rates are rising among youth in the United States; however, research on SI/SA in youth with sickle cell disease (Y‐SCD) remains limited. Using the Pediatric Health Information System, we examined the prevalence and demographic factors associated with SI/SA among Y‐SCD (10–18 years) seeking acute care between 2015 and 2024. Overall, 358 (3.08%) Y‐SCD had ≥ 1 SI/SA encounter and 0.76% of all acute encounters among Y‐SCD included a code for SI/SA. Female sex ( p < 0.0001) and public insurance ( p = 0.0009) were significantly associated with SI/SA. Findings highlight the need for suicide screening in acute care settings for Y‐SCD.