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Objetivo: identificar o local e os cuidados diretos recebidos por pessoas com úlceras da perna por doença falciforme nos serviços de atenção à saúde. Método: estudo transversal, realizado em 11 centros, no período de agosto de 2019 a abril de 2020. Fizeram parte do estudo 72 pessoas com úlcera da perna ativa. O estudo foi aprovado pelo Comitê de Ética em Pesquisa. Resultado: apresentavam anemia falciforme 91,7% dos participantes, com mediana de três anos de existência da úlcera; 77,8% eram redicivantes; 40,3% compravam os insumos; 66,7% trocavam o próprio curativo no domicílio; 52,8% realizavam uma ou mais trocas diárias; 45,8% dos tratamentos foram prescritos pelo médico; 37,5% eram pomada (colagenase ou antibiótico); 89% não utilizavam compressão para o manejo do edema. Conclusão: a maioria dos participantes não estava inserida na Rede de Atenção à Saúde para o tratamento da úlcera, e não recebia assistência sistematizada e nem insumos apropriados.

Objective: to identify the location and direct care received by people with leg ulcers due to sickle cell disease in health care services. Method: a cross-sectional study carried out in 11 centers from August 2019 to April 2020. The study included 72 people with active leg ulcers. The study was approved by the Research Ethics Committee. Results: a total of 91.7% of the participants had sickle cell anemia, with a median of three years of ulcer existence; 77.8% were recurrent; 40.3% bought the supplies; 66.7% changed their own dressings at home; 52.8% did one or more changes a day; 45.8% of the treatments were prescribed by physician; 37.5% were ointments (collagenase or antibiotics); and 89% did not use compression to manage edema. Conclusion: most of the participants were not included in the Health Care Network for ulcer treatment and did not receive systematized care or appropriate supplies.

Objetivo: identificar el lugar y los cuidados directos recibidos por personas con úlceras de pierna por enfermedad falciforme en los servicios de atención a la salud. Método: estudio transversal, realizado en 11 centros, en el período de agosto de 2019 a abril de 2020. Participaron 72 personas con úlcera de pierna activa. El estudio fue aprobado por el Comité de Ética en Investigación. Resultado: presentaban anemia falciforme 91,7% de los participantes, con una mediana de tres años de existencia de la úlcera; 77,8% eran recidivantes; 40,3% compraban los insumos; 66,7% cambiaban su propio vendaje en el domicilio; 52,8% realizaban uno o más cambios diarios; 45,8% de los tratamientos fueron prescritos por el médico; 37,5% eran pomada (colagenasa o antibiótico); y 89% no utilizaban compresión para el manejo del edema. Conclusión: la mayoría de los participantes no estaba integrada en la Red de Atención a la Salud para el tratamiento de la úlcera, y no recibía asistencia sistematizada ni insumos apropiados.

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Sickle cell anemia (SCA) is a genetically inherited hemoglobinopathy characterized by the abnormal morphology of red blood cells, resulting in vaso-occlusive events and diverse clinical complications. Recent investigations have unveiled a novel dimension in understanding SCA severity through the lens of eosinophilic dialogues. This review article synthesizes current knowledge on the molecular intricacies of eosinophils in the context of SCA, exploring their biology, molecular markers, and interactions with other cellular components. Eosinophil-mediated inflammation and oxidative stress are dissected to elucidate their impact on the disease course. Furthermore, the review evaluates potential therapeutic interventions and outlines future directions in this burgeoning field. The term "Eosinophilic Dialogues" encapsulates the multifaceted molecular exchanges that influence SCA severity, presenting a promising avenue for targeted interventions and improved clinical outcomes. This review serves as a comprehensive resource for researchers, clinicians, and healthcare practitioners engaged in unraveling the complex pathophysiology of SCA and exploring novel therapeutic avenues.

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Vaso-occlusive crisis is a sequela of sickle cell disease that can lead to severe pain and infarction at the location of occlusion. In men, genitourinary complications include priapism, hematuria, and very rarely, testicular infarction. Few cases have been previously reported in the literature, but in all of those cases, partial or complete orchiectomy was performed. We report the first known case of segmental testicular infarct secondary to sickle cell disease treated with medical management without need for surgical intervention.

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OBJECTIVE: This study aimed to investigate the epidemiological trends of Pediatric Sickle Cell Disease (SCD) in Brazil over the period 2008-2022, with a focus on understanding the incidence, mortality rates, and associated healthcare costs. The study explored potential associations between patient characteristics and the occurrence of crises in pediatric SCD cases. METHODS: A cross-sectional study was conducted, analyzing national annual rates of pediatric SCD hospitalizations using data from the FioCruz platform. Descriptive and inferential analyses, including time series and ARIMA regression, were employed. Economic dimensions were assessed using cost categorization. The study followed STROBE reporting guidelines. RESULTS: Data on 81,942 pediatric SCD hospitalizations were collected, with a predominance of crisis-related cases (74.08 %). Males and children under five years old were most affected. Regional disparities were observed, with the Southwest region recording the highest hospitalization rates. ICU costs were higher for crisis-related hospitalizations. Mortality rates were significantly higher for crisis-related cases (p < 0.001), with ARIMA regression indicating a significant association between hospitalizations for crisis-related cases and mortality. CONCLUSION: This study highlights the significant burden of pediatric SCD in Brazil, particularly crisis-related cases, suggesting a need for focused interventions. By prioritizing early detection, equitable access to healthcare, and evidence-based interventions, Brazil can mitigate the burden of SCD and improve patient outcomes. These findings contribute to informing public health policies and interventions aimed at addressing the challenges of pediatric SCD management in Brazil.

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BACKGROUND: Sickle cell anemia (SCA) is the most common hemoglobinopathy in Brazil and worldwide and is part of a group of chronic genetic diseases resulting from abnormalities in the structure of hemoglobin. AIM: To evaluate the impact of oral health conditions on the quality of life (QoL) of children and adolescents with SCA. DESIGN: This is a cross-sectional study with a sample of 76 children and adolescents aged 8-14 years. For inclusion, they were required to have a diagnosis of HbSS SCA in their medical records, without a pain crisis or any dental emergency in the last three months. The children and adolescents with SCA were from Hematology and Hemotherapy Center of Maranhão. Demographic characteristics, socioeconomic status, oral hygiene, caries, malocclusion, and oral health-related quality of life (OHRQoL) were assessed. OHRQoL was assessed using the Child Perceptions Questionnaire. Descriptive statistics, Student's t and Mann-Whitney tests were performed (α = 5%). RESULTS: Brown race was the most prevalent for both age groups (8-10 years-63.2% and 11-14 years-57.9%). Predominant monthly family income for both age groups was below $106. Visible plaque and gingival bleeding were higher in children aged 8-10 years. Dental caries significantly impacted the QoL of adolescents through the domain "oral symptom" (p = .031). Malocclusion significantly impacted the QoL of adolescents ("total score," p = .026; "social well-being", p = .045). CONCLUSION: Oral health impairment negatively affected the QoL of adolescents with SCA.

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Sickle cell disease (SCD) is the most common genetic blood disorder, characterized by red cell hemolysis, anemia, and corresponding increased compensatory cerebral blood flow (CBF). SCD patients are at high risk for cerebral infarcts and CBF quantification is likely critical to assess infarct risk. Infarcts primarily localize to white matter (WM), yet arterial spin labeling (ASL) MRI, the most common non-invasive CBF approach, has poor WM CBF sensitivity owing to low WM CBF and long WM bolus arrival time (BAT). We hypothesize that anemia, and associated cerebral hyperemia, in SCD leads to improved WM detection with ASL. We performed 3-Tesla multi-delay pulsed ASL in SCD (n = 35; age = 30.5 ± 8.3 years) and control (n = 15; age = 28.7 ± 4.5 years) participants and applied t-tests at each inversion time within different flow territories, and determined which regions were significantly above noise floor (criteria: one-sided p < 0.05). Total WM CBF-weighted signal was primarily detectable outside of borderzone regions in SCD (CBF = 17.7 [range = 12.9-25.0] mL/100 g/min), but was largely unphysiological in control (CBF = 8.1 [range = 7.6-9.9)] mL/100 g/min) participants. WM BAT was reduced in SCD versus control participants (ΔBAT = 37 [range = 46-70] ms) and BAT directly correlated with hematocrit (Spearman's-ρ = 0.62; p < 0.001). Findings support the feasibility of WM CBF quantification using ASL in SCD participants for appropriately parameterized protocols.

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Many adults with sickle cell disease experience chronic, non-vaso-occlusive pain that can benefit from non-pharmacological interventions available for use in the home setting. Virtual reality has been shown to be effective in decreasing pain in chronic pain conditions and may be useful for home-based self-management of chronic pain in sickle cell. However, the literature lacks studies examining this potential. Additionally, the knowledge and experiences of adults with sickle cell who have tried virtual reality for home-based chronic pain management have not yet been reported. This qualitative, descriptive pilot study explored the knowledge and perceptions of virtual reality among adults with sickle cell and their experience with using in-home virtual reality for chronic pain. Nine participants completed demographic questionnaires and an individual interview that was recorded, transcribed verbatim, and analyzed using thematic analysis. Participants were 21 to 38 years of age, and most were female (88.9%) with a medium or high sickle cell disease severity (88.9%) and a chronic pain grade classification of Grade III (high disability-moderately limiting) or Grade IV (high disability-severely limiting) (55.5%). Interview themes, which aligned with the Technology Acceptance Model, were: (1) pain beliefs and self-management; (2) virtual reality as another world; and (3) experience of using in-home virtual reality. Based on preliminary data, virtual reality shows promise as a strategy for non-pharmacological management of chronic pain in adults with sickle cell. However, further investigations are warranted to mitigate the challenges and limitations associated with using virtual reality in this capacity. PERSPECTIVE: Few evidence-based, non-pharmacological interventions exist for chronic pain in adults with sickle cell disease (SCD). This first qualitative, pilot study of in-home VR for chronic pain in adults with SCD suggests that VR interventions need further exploration as a non-pharmacological strategy for mitigating their pain in the home setting.

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Background Sickle cell anemia (SCA) results in various complications, necessitating continuous daily care and placing burdens on caregivers. Objectives This study aims to assess the burden on family caregivers of children with SCA and its associated factors. Materials and methods This analytical cross-sectional study was conducted in Madinah City, Saudi Arabia. We included family caregivers of children with SCA who were registered and treated at the Maternity and Child Hospital in King Salman Medical City. Data were collected from all registered files of children who received treatment for SCA. Data from participants was obtained using the validated Arabic version of the Zarit Burden Interview (ZBI). Descriptive statistics, chi-square tests, independent sample t-tests, and multivariate regression analysis were used in the statistical analysis. Results Overall, 124 caregivers participated out of 166 (response rate: 74.7%), among which 83 (66.9%) were fathers, 72 (58.1%) were aged ≥40 years, 96 (77.4%) held Saudi nationality, and 62 (50%) had a monthly income of <5000 SAR. The average daily caregiving hours were 5±4 hours, and 30 (24.2%) of children were diagnosed with associated physical or psychological diseases. The Zarit Burden Interview score indicated that 45 (36.3%) of caregivers reported no burden, whereas 51 (41.1%), 22 (17.7%), and 6 (4.8%) reported mild, moderate, and severe burden, respectively. Factors contributing to the burden included being a mother, low financial resources, non-Saudi nationality, children diagnosed with associated physical or psychological diseases, and caregiving hours. Conclusions The burden on SCA caregivers was higher for caregivers who were mothers, non-Saudis, those with lower income, and children with physical or psychological diseases, as well as more caregiving hours. Enhancing the overall well-being of families affected by the SCA burden involves creating targeted interventions and comprehensive support programs.

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Objectives: This study aimed to determine the health-related quality of life (HRQoL) of adult Omani patients with sickle cell disease (SCD). The quality of life of these patients in Oman is unknown. Methods: This cross-sectional study was conducted at the Sultan Qaboos University Hospital, Muscat, Oman, from June to October 2022 and included patients with SCD. A validated Arabic version of the 36-Item Short-Form Health Survey (SF-36) was used to assess HRQoL in 8 domains. Results: A total of 235 patients with SCD were included in this study, the majority of whom were female (74.9%) and between 18 and 35 years of age (64.6%). The lowest HRQoL was reported for the domain of role limitations due to physical health (median score = 25.0, interquartile range [IQR] = 35.0), while the highest was seen for role limitations due to emotional problems (median score = 66.7, IQR = 100.0). Frequent SCD-related emergency department visits/hospital admissions and the adverse effect of SCD on patients' social lives had a significant negative impact on SF-36 scores for all 8 HRQoL domains (P ≤0.05). Additionally, SCD's impact on academic performance and a history of having been bullied due to SCD had a significant negative impact on SF-36 scores for 7 domains (P ≤0.05). Conclusion: Omani adult patients with SCD reported relatively poor HRQoL in several domains, with various factors found to be significantly associated with this. Healthcare providers and policy makers should consider offering additional clinical, educational and financial support to these patients to enhance their HRQoL.

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Background: Despite recent advances in our knowledge of genetic contributions to the highly variable sickle cell disease (SCD) phenotype, our understanding of genetic factors associated with pain sensitivity in SCD remains limited. Previous studies investigated specific variants in single candidate genes and their association with SCD pain variability. The primary aim of the current study was to expand the genes and polymorphisms tested to discover new risk genes (polymorphisms) associated with central sensitization for individuals with SCD. Methods: Adults with sickle cell disease (n = 59, Mage = 36.8 ± 11.5, 65.8 % female) underwent quantitative sensory testing to examine central sensitization and general pain sensitivity. Participants reported average crisis and non-crisis pain intensities weekly using a 0-100 scale, and provided salivary samples for genotyping. The Hardy-Weinberg equilibrium was verified for controls, and allele distributions were tested with chi-square and odds ratio tests. The Benjamini-Hochberg procedure was used to control for false discovery rate. Regression analyses and Wilcoxon tests were used to test associations for normally distributed and skewed data, respectively. Results: Central sensitization and general pain sensitivity were not associated with hemoglobin genotype (Ps > 0.05). Of 4145 SNPs tested, following false discovery rate adjustments, 11 SNPs (rs11575839, rs12185625, rs12289836, rs1493383, rs2233976, rs3131787, rs3739693, rs4292454, rs4364, rs4678, rs6773307) were significantly associated with central sensitization, and one SNP (rs7778077) was significantly associated with average weekly non-crisis pain. No SNPs were associated with general pain sensitivity. Conclusions: These findings provide insights into genetic variants association with average non-crisis pain and central sensitization for individuals with SCD, and may provide support for genetic predictors of heightened pain experience within SCD.

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Objectives: This case-control study investigated the mode of leukocyte function in sickle cell anemia (SCA) to delineate the underlying immunopathology for early diagnosis and mitigate the increased bacterial infection risk in this patient population. Method: In total, 90 participants comprising 24 hemoglobin (Hb)-AA, 22 Hb-AS, 23 steady state Hb-SS and 21 vaso-occlusive crisis state Hb-SS subjects were recruited for this study. The subjects were further divided into the following six groups: Hb-AA and Hb-AS subjects as control groups, Hb-SS subjects at steady state, Hb-SS subjects in a vaso-occlusive crisis state, Hb-SS subjects undergoing medication (Meds), and Hb-SS subjects undergoing medication plus blood transfusion (Meds/BT) group, respectively. Hematological analysis, Hb electrophoresis, leukocyte ratios, and leukocyte functional assays were assessed with standard methods, and interleukin 8 (IL-8) and L-selectin levels were evaluated using enzyme-linked immunosorbent assays. Results: Total leukocyte and monocyte counts were increased in the Hb-SS groups compared to the control groups. However, the Hb-SS groups had lower lymphocyte counts than the other groups (p < 0.005). Leukocyte viability was increased in the SCA groups, while phagocytic activities and oxidative respiratory burst were both reduced in the SCA groups (p < 0.005). Increased IL-8 levels were observed in all SCA groups (p < 0.05), whereas L-selectin levels of the Hb-SS steady and Hb-SS on Meds groups were decreased compared to the other groups (p < 0.05). The neutrophil-to-lymphocyte ratio, monocyte-to-lymphocyte ratio, and platelet-to-lymphocyte ratio were higher in the SCA groups than the control groups (p < 0.05). Conclusion: Impaired leukocyte phagocytic and oxidative respiratory burst activities constitute altered leukocyte function in SCA, which can increase their susceptibility to infections and the risk of mortality, especially during the crisis state. Novel therapeutic approaches can be tailored specifically to enhance these leukocyte functions and mitigate the increased infection risk in SCA.

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Sickle cell disease (SCD), the most common autosomal recessive genetic disorder, affects the hemoglobin (Hb) chains in human red blood cells. It is caused by mutations in the ß-globin genes, leading to the production of hemoglobin S, which results in the formation of sickle-shaped red blood cells (RBCs). These abnormal cells cause hemolysis, endothelial damage, and small vessel occlusion, leading to both acute and long-term complications. According to the World Health Organization's 2008 estimates, SCD affects approximately 2.28 per 1000 individuals globally. Despite this high prevalence, therapeutic advancements have been slow. For many years, the only FDA-approved medications for managing SCD complications were hydroxyurea and deferiprone. However, recent years have seen the approval of several new therapies, including L-glutamine (2017), voxelotor and crizanlizumab (2019), as well as exagamglogene autotemcel (Casgevy) and lovotibeglogene autotemcel (Lyfgenia) (2023). These treatments have proven effective in managing both the acute and chronic effects of SCD, including hemolytic anemia, chronic pain, stroke, vaso-occlusive crises, and multiple organ damage syndromes. This review explores the mechanisms of action, practical considerations, and side effects of these emerging therapies, drawing from a comprehensive search of databases such as PubMed, Medline, and Cochrane.

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Ketamine is an N-methyl D-aspartate (NMDA) receptor antagonist used to treat pain at subanesthetic doses. Ketamine is beneficial for pain control in patients who have a high tolerance to opioids and are experiencing opioid-induced hyperalgesia. This study characterizes oral ketamine use for analgesia at a large academic hospital and reports safety outcomes for hospitalized patients. This study was a retrospective electronic health record (EHR) review of patients ≥ 18 years or older receiving oral ketamine. The primary endpoint was median ketamine starting dose and maximum dose (mg/kg/day) during treatment duration. Secondary outcomes included oral Morphine Milligram Equivalents (MMEs), buprenorphine dose, minimum and maximum pain scores on the first and last day of therapy. Safety endpoints were reported. The median starting dose was 1 mg/kg/day, and the median maximum dose was 1.6 mg/kg/day. Median MMEs decreased from the first day to the last day of oral ketamine therapy. The study population experienced a low incidence of safety events overall. Oral ketamine was administered safely for analgesia, with patients receiving ketamine doses that were on the lower end of the established therapeutic range. Evaluation of the efficacy and safety of oral ketamine use for analgesia should be further studied.

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BACKGROUND: Sickle cell disease (SCD) is a Mendelian disorder characterized by a point mutation in the ß-globin gene that leads to sickling of erythrocytes. Several studies have shown that absolute neutrophil count is strongly associated with clinical severity of SCD, suggesting an apparent role of white blood cells (WBC) in SCD pathology. However, the mechanism by which genetic variants lead to WBC count differences in SCD patients remains unclear. METHODS: Genome-wide association (GWA) analyses were carried out amongst a cohort of 2409 Brazil SCD participants. Association of WBC count and genetic markers were investigated in homozygous sickle cell anaemia participants and compound heterozygous sickle cell haemoglobin C participants. RESULTS: GWA analysis showed that variants in genes TERT, ACKR1, and FAM3C are associated with WBC count variation. The well-studied association between WBC count and Duffy null phenotype (variant in ACKR1) in healthy populations was replicated, reinforcing the influence of the SNP rs2814778 (T>C) in WBC count. CONCLUSION: Genetics plays an important role in regulating WBC count in patients with SCD. Our results point to possible mechanisms involved in WBC count variation and as increased WBC count is associated with more severe SCD, these results could suggest potential therapeutic targets for individuals with SCD.

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Sickle cell disease (SCD) is a major public health concern with significant associated economic costs. Although the disease affects all ethnic groups, about 90% of individuals living with sickle cell disease in the USA are Black/African American. The purpose of this study was to assess the health care discrimination experiences of adults living with SCD and the quality of the relationship with their health care providers. We conducted six focus groups from October 2018 to March 2019 with individuals receiving care at a specialized adult sickle cell program outpatient clinic at a private, nonprofit tertiary medical center and teaching hospital in the northeastern USA. The sample of 18 participants consisted of groups divided by gender and current use, past use, or never having taken hydroxyurea. Ten (56%) participants were males; most were Black/African American (83%) and had an average age of 39.4 years. This study reports a qualitative, thematic analysis of two of 14 areas assessed by a larger study: experiences of discrimination and relationships with providers. Participants described experiences of bias related to their diagnosis of SCD as well as their race, and often felt stereotyped as "drug-seeking." They also identified lack of understanding about SCD and poor communication as problematic and leading to delays in care. Finally, participants provided recommendations on how to address issues of discrimination.

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Persistent albuminuria (PA) is common in sickle cell anaemia (SCA). With the association of chronic kidney disease (CKD) with increased mortality, biomarkers that predict its development or progression are needed. We evaluated the association of select biomarkers with PA in adults with SCA using Kruskal-Wallis rank-sum test and logistic regression models, with adjustment for multiple testing. Of 280 subjects, 100 (35.7%) had PA. Median plasma levels of soluble vascular cell adhesion molecule-1 (VCAM-1) (1176.3 vs. 953.4 ng/mL, false discovery rate [FDR] q-value <0.003), thrombin-antithrombin complex (5.5 vs. 4.7 ng/mL, FDR q-value = 0.04), and urinary angiotensinogen (AGT) (12.2 vs. 5.3 ng/mg, FDR q-value <0.003), urinary nephrin (30.6 vs. 27.2 ng/mg, FDR q-value = 0.04), and urinary kidney injury molecule-1 (KIM-1) (0.8 vs. 0.5 ng/mg, FDR q-value <0.003), normalized to urine creatinine, were significantly higher in subjects with PA. In multivariable analysis, only urinary AGT (odds ratio = 1.058, FDR q-value <0.0001) remained a significant predictor of PA. In addition, soluble VCAM-1 (FDR q-value <0.0001), D-dimer (FDR q-value <0.0001), urinary AGT (FDR q-value <0.0001), KIM-1 (FDR q-value <0.0001), and nephrin (FDR q-value <0.0001) were significantly associated with urine albumin-creatinine ratio in multivariable analyses. Longitudinal studies to evaluate the predictive capacity of biomarkers for the development and progression of CKD in SCA are warranted.

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OBJECTIVE: This study characterized caregivers' beliefs related to early intervention services for children with sickle cell disease (SCD) to gain an indepth understanding of caregivers' experiences and desires for early intervention services. METHODS: Both qualitative and quantitative data were collected from caregivers of children aged 0-4 years with SCD across two sites in the United States. Caregivers completed the Knowledge of Infant Development Inventory, a custom survey about their experiences with early intervention, and a qualitative interview. RESULTS: A total of 127 caregivers were approached, 47 participated in surveys, and 20 completed interviews. Caregivers expressed varying levels of confidence and understanding of developmental milestones across sites. Interviews highlighted three main themes: fear of SCD-related complications, variable buy-in to early intervention, and the importance of provider-caregiver relationships. While some caregivers appreciated early intervention, others questioned its necessity. Caregivers communicated interest in connecting with other families facing similar challenges, emphasizing the need for increased awareness of available resources. CONCLUSIONS: Fear about their child's well-being was expressed by many caregivers, emphasizing the need for a supportive healthcare team that can help families connect with preventive interventions. While about a quarter of children had been referred to rehabilitation services, caregivers were unaware of the elevated risk for developmental delay, which diminished caregiver interest in participating in programs like early intervention. This study underscores the importance of addressing knowledge gaps and overcoming barriers to enhance care for families affected by SCD.

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Sickle cell disease includes various inherited hemoglobinopathies due to the production of abnormal hemoglobin molecules. This can lead to significant clinical complications and sequelae. Hemoglobin SC (HbSC) is a notable variant of SCD, requiring early diagnosis and management to prevent severe outcomes. This case report highlights the critical need for SCD screening, particularly among immigrant populations where current U.S. guidelines do not mandate arrival screening. We present the case of a West African male, age 45, with chronic osteomyelitis, who developed a life-threatening pulmonary embolism (PE) due to peripherally inserted central catheter (PICC line) thrombosis, triggering a hemolytic crisis and thereby revealing HbSC disease. The authors of this report advocate for routine SCD screening in high-risk populations through targeted screening programs. Through multidisciplinary management and public health initiatives, we can address the gap in screening and ensure early detection and treatment of SCD in vulnerable populations.

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In the last ten years, a consistent number of clinical studies have evaluated different gene approaches for the treatment of patients with sickle cell disease (SCD) and transfusion-dependent ß-thalassemia (TDT). Initial studies of gene therapy for hemoglobinopathies involved the use of lentiviral vectors to add functional copies of the gene encoding ß-globin in defective CD34 cells; more recently, gene editing techniques have been used involving either CRISPR-Cas9, transcription activation-like effector protein nuclease, zinc finger nuclease, and base editing to either induce fetal hemoglobin production at therapeutic levels or to genetically repair the underlying molecular defect causing the disease. Here, we review recent gene editing studies that have started the development of a new era in the treatment of hemoglobinopathies and, in general, monoallelic hereditary diseases.

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Acute soft head syndrome (ASHS) is a rare complication of sickle cell disease that often requires a high index of suspicion and is often a diagnosis of exclusion. We present the case of an 18-year-old male with sickle cell disease in the United States who developed acute soft head syndrome without known traumatic injury. The goal of this case presentation is to provide awareness and education regarding a rare complication of sickle cell disease and recommended management for the associated symptoms.