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Sickle cell disease (SCD) is a common hereditary blood disorder that profoundly impacts individuals' health, causing chronic pain, anemia, organ damage, increased susceptibility to infections, and social and psychological effects. Over the years, advances in treatment have improved the long-term outcomes of SCD patients. However, problems such as limited access to hematopoietic stem cell transplantation (HSCT) and potential complications associated with the available therapies underscore the importance of continued research and development. The recent FDA approval of Casgevy (Exagamglogene autotemcel), a genetic therapy based on CRISPR/Cas9 technology, demonstrates a comprehensive effort to address the complexity of SCD using new technologies. This review explores the potential of CRISPR/Cas9 for treating SCD and evaluates its efficacy, safety, and long-term outcomes compared to traditional treatment approaches. Long-term research is needed to comprehensively assess the safety, effectiveness, and inclusion of CRISPR/Cas9, ensuring its overall efficacy.

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BACKGROUND: Sickle cell disease (SCD) is a global hemoglobinopathy; approximately 300 000 individuals are diagnosed annually. Acute chest syndrome (ACS), a common complication, leads to significant hospitalization and mortality, particularly in cases of severe respiratory distress. ECMO outcomes in this specific population are poorly described. METHODS: This retrospective observational study, utilizing data from the Extracorporeal Life Support Organization (ELSO) registry, focuses on children and young adults (<40 years) with SCD undergoing ECMO from 1998 to 2022. RESULTS: We observed a growing trend in ECMO cases over the last 15 years, with 210 SCD patients identified in the registry (five neonates, 95 children, 110 adults). ECMO was predominantly initiated for pulmonary support (62%), and most of the primary diagnoses were related to SCD (reported as "SCD" or "acute chest syndrome"). The global survival rate was 55.8% (59% for children and 52.7% for adults). None of the children supported for extracorporeal cardiopulmonary resuscitation survived, and only 2/18 (11%) of adults cannulated for ECPR survived. Complication rates, including acute renal failure (33.8%) neurological events (13%), thrombotic (23.3%), or bleeding events (22.9%) were not noticeably different from reported outcomes in the ELSO registry. CONCLUSION: Our findings suggest that ECMO outcomes in SCD patients align with general ECMO trends and may not be limited by suspected unfavorable results in children and young adults. Despite limitations, our study contributes valuable insights into using ECMO in SCD, emphasizing the need for further research and understanding in this underexplored domain.

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BACKGROUND: Endothelial dysfunction is an integral pathophysiologic mechanism in sickle cell disease (SCD), and can lead to many complications. Sleep-disordered breathing (SDB) is a SCD complication with diverse incidence and pathophysiology. This study aimed to determine the prevalence of SDB in children with SCD and to assess its relation to endothelial dysfunction. METHODS: Sixty children with SCD and 60 healthy controls were enrolled. The levels of TNF-α, IL-6, and IL-17A were evaluated in the entire cohort using enzyme-linked immunosorbent assay (ELISA) kits. Polysomnography (PSG) was performed for all SCD patients after completion of the Pediatric Sleep Questionnaire (PSQ). RESULTS: TNF-α, IL-6, and IL-17A levels were significantly greater in children with SCD than in controls (p-values < 0.001, < 0.001, and 0.006, respectively). The PSQ revealed symptoms suggestive of SDB in 50 children with SCD (83.3%), and PSG revealed obstructive sleep apnea (OSA) in 44 children with SCD (73.3%); 22 patients had mild OSA, and 22 had moderate-to-severe OSA according to the apnea-hypopnea index (AHI). TNF-α was significantly greater in SCD children who reported heavy or loud breathing, trouble breathing or struggle to breathe, and difficulty waking up in the morning (p-values = 0.002, 0.002, and 0.031, respectively). The IL-6 levels were significantly greater in SCD children who stopped growing normally (p-value = 0.002). The levels of IL-6 and IL-17A were significantly greater in SCD children with morning headaches (p-values = 0.007 and 0.004, respectively). CONCLUSION: Children with SCD showed a high prevalence of SDB with significantly elevated levels of markers of endothelial function, highlighting the interplay of SDB and endothelial dysfunction in SCD.

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Anemia Falciforme , Endotélio Vascular , Interleucina-6 , Polissonografia , Síndromes da Apneia do Sono , Fator de Necrose Tumoral alfa , Humanos , Anemia Falciforme/complicações , Anemia Falciforme/fisiopatologia , Masculino , Feminino , Criança , Síndromes da Apneia do Sono/fisiopatologia , Síndromes da Apneia do Sono/epidemiologia , Síndromes da Apneia do Sono/complicações , Egito/epidemiologia , Interleucina-6/sangue , Fator de Necrose Tumoral alfa/sangue , Estudos de Casos e Controles , Endotélio Vascular/fisiopatologia , Interleucina-17/sangue , Prevalência , Adolescente , Biomarcadores/sangue , Estudos Transversais

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Sickle cell disease (SCD) is a hereditary disorder characterized by vaso-occlusion, inflammation, and tissue damage. Intercellular adhesion molecule 1 (ICAM-1) plays a crucial role in the pathophysiology of SCD by promoting the adhesion of sickle cells to the endothelium, contributing to vaso-occlusion and tissue damage. The ICAM-1 gene encodes a glycoprotein that interacts with lymphocyte function-associated antigen 1 (LFA-1) and macrophage 1-antigen (Mac-1) receptors, perpetuating inflammation, and oxidative stress. The NF-κB signaling pathway regulates ICAM-1 expression, which is elevated in patients with SCD, leading to increased endothelial cell activation and damage. Targeting ICAM-1 and its interactions with sickle cells and the endothelium has emerged as a potential therapeutic strategy for managing SCD. This review highlights the complex interplay between ICAM-1, sickle cells, and the endothelium, and discusses the potential of ICAM-1-targeted therapies for mitigating VOC and improving the quality of life for patients with SCD.

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Sickle Cell Disease (SCD) is a severe hemoglobin gene mutation disorder inherited from both parents. 2% of Ghanaian newborns are affected by SCD; one in three Ghanaians has the hemoglobin S gene. Christian religious leaders may play a role in the prevention of SCD through the promotion of genetic counseling, genotype screening for premarital couples, and offering counseling to couples on prenatal screening and diagnosis for SCD. However, little is known about the awareness and perception of SCD among Christian religious leaders in Ghana, and this study aims to explore these. This study adopted a qualitative descriptive design to explore the awareness and perception of SCD among Christian religious leaders in the capital city of Ghana. A purposive sampling technique selected 16 participants from churches under the main Christian groups. The participants were chosen based on their roles and responsibilities within their respective churches. Data was collected using a semi-structured interview guide, which included open-ended questions to encourage participants to share their thoughts and experiences. The interviews were conducted in a private setting to ensure confidentiality. The data was then analyzed using a thematic analysis approach, which involved identifying recurring themes and patterns in the participants' responses. The study's findings are crucial. They reveal a high awareness of SCD among Christian religious leaders, but also some misconceptions. Most of the religious leaders knew SCD was a genetic disease, although a few associated SCD with superstitious beliefs, poor dietary intake, and lifestyle. Some also stated that SCD was a disease of the blood group instead of the defective haemoglobin gene. They perceived SCD to be burdensome, disruptive, and draining, and they associated the disease with burnout in Persons Living with SCD (PLWSCD) and their families. The religious leaders had a good social network with PLWSCD, including family, friends, colleagues, and congregants. These findings underscore the need for intense education about SCD, especially among Christian religious leaders. It is crucial to engage all stakeholders to intensify public awareness and education about SCD while improving the management and social support systems available to PLWSCD and families. This includes the religious institution's leadership, PLWSCD and families, the Ministry of Health, Ghana Health Service, and the Ghana Education Service. As active stakeholders, religious leaders can play a vital role in supporting PLWSCD if they are equipped with the necessary knowledge about the condition. .

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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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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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INTRODUCTION: Skull infarction is an uncommonly reported complication of sickle cell disease. We aimed to characterize the clinical and imaging features of skull infarction in pediatric patients with sickle cell disease. METHODS: We searched the PubMed database for case reports on skull bone infarction in pediatric patients with sickle cell disease. Out of 67 records retrieved, 15 met inclusion criteria, and a 16th case reported by the senior author was included. We extracted and analyzed clinical and imaging data. RESULTS: The most common symptom at onset was headache (88%). Bilateral skull infarction (50%) and parietal bone involvement (82%) were frequent imaging findings. Epidural hematoma developed in 65% of the cases, 30% of patients required drainage, and exchange infusion was reported in 18%. No fatal outcomes were reported. CONCLUSIONS: Skull infarction is a potentially severe complication of sickle cell disease presenting unique clinical challenges. Acute headaches should raise suspicion for this condition and may require additional investigation.

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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 order to document the prevalence, clinical features, hematology and outcome of the aplastic crisis in homozygous sickle cell disease (HbSS), a cohort study has been conducted from birth. Newborn screening of 100 000 deliveries at the main government maternity hospital, Kingston, Jamaica between 1973 and 1981 detected 311 cases of HbSS who have been followed at the Medical Research Council Laboratories at the University of the West Indies, Kingston, Jamaica. Clinically defined aplastic crises occurred in 118 (38%) patients at a median age of 7.5 years (range 0.5-23.0 years). All but one event seroconverted to parvovirus B19, the exception being a 9.3 year male with classic aplasia but subsequent IgG did not exceed 3 IU. Defined by zero reticulocyte counts, 94 patients presented with a median hemoglobin of 3.7 g/dL (range 18-87 g/L) representing a median fall from steady state levels of 3.8 g/dL. Clear epidemic peaks occurred at 1979-1980, 1984-1986, and 1990-1993 and the admission rate and use of blood cultures fell with each epidemic, reflecting increased familiarity with the complication. Symptoms were usually nonspecific and all but 7 were transfused. No patient had a recurrence and two died from aplasia (one with remote rural residence and the other following an incorrect diagnosis). Of those seroconverting to parvovirus B19, 68% manifested aplasia and 24% had no hematologic change. Correctly diagnosed and managed, the aplastic crisis is essentially benign. (230 words).

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Background: Sickle cell disease is the most common human monogenetic disease, and its risks are amplified during pregnancy. Methods: This report describes a 35-year-old woman with HgbSS sickle cell disease who developed hyperhemolysis syndrome after undergoing an exchange transfusion during pregnancy. Results: In addition to conventional medical treatment, the patient received prepartum hyperbaric oxygen therapy (HBOT), totaling 17 treatments for the indication of severe anemia. She experienced significant clinical improvement while undergoing HBOT and ultimately delivered a healthy preterm infant by cesarean section. Conclusions: The risks, benefits, and challenges of using HBOT in this unique context are discussed.

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Background: Hemoglobinopathies, such as sickle cell disease and thalassemia, are genetic disorders that affect hemoglobin structure or production, leading to various health complications, including an increased risk of infections. Vaccinations play a crucial role in managing these conditions by providing essential protection against preventable diseases. Ensuring timely and appropriate immunizations is vital for reducing infection-related morbidity and improving the overall health and quality of life for affected individuals. Objectives: Our objective was to assess vaccination coverage, as well as knowledge, attitudes, and practices toward vaccination in Greek patients with hemoglobinopathies. Design and methods: A nationwide survey of hemoglobinopathy patients in Greece using a 37-item questionnaire was conducted anonymously via Google Forms. It covered demographics, previous vaccinations, vaccine-preventable infections, beliefs about vaccines, and antibiotic prophylaxis post-splenectomy. The survey was distributed through Thalassemia and Sickle Cell Units and organizations. Results: Participants were predominantly university-educated married women aged 30-50 years with transfusion-depended thalassemia (n = 149, 60.5%) or sickle cell anemia (n = 52, 21.1%). Reported childhood vaccination rates aligned with Greece's national immunization program. However, adult coverage was suboptimal across all age groups for measles (10%), varicella (27%), zoster (2% for over 50 years old individuals), hepatitis A (13.9% of those with chronic liver disease) and hepatitis B (41%), pneumococcal (81.3%), meningococcal (37%), tetanus (20.3%), and influenza (67.1%) vaccines compared to guidelines. Participants relied predominantly on healthcare providers for vaccine information but perceived limited engagement. Those over age 50 demonstrated lower adult vaccination rates and higher misconceptions compared to younger cohorts. Conclusion: Addressing educational and access gaps could help protect this vulnerable population. Our findings highlight the need for coordinated efforts to optimize adult immunization for those with hemoglobinopathies.

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Vaccination Habits of Greek Adults with Hemoglobin Disorders We surveyed 246 adults in Greece with hemoglobin disorders like thalassemia and sickle cell anemia. Most were educated women aged 30­50. When it came to childhood vaccinations, they followed Greece's guidelines. But as adults, they weren't getting vaccinated enough. For instance, only a small percentage got vaccines for measles, varicella, hepatitis A and B, among others. They mostly relied on doctors for vaccine info but felt they weren't getting enough guidance. Older adults were less likely to get vaccinated and had more misconceptions. To help, we need better education and easier access to vaccines.

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Sickle cell disease (SCD) is a hereditary hemoglobinopathy that can lead to progressive vasculopathy, increasing the risk of cerebrovascular complications. Moyamoya syndrome (MMS), a rare disorder characterized by stenosis of the internal carotid arteries, can occur in SCD patients due to chronic endothelial damage and inflammation. The coexistence of these conditions can result in severe cerebrovascular complications, presenting unique diagnostic and therapeutic challenges. We present a 35-year-old African American male with a complex interplay of advanced SCD and MMS, manifesting as extensive cerebrovascular disease and recurrent ischemic strokes. A CT angiogram (CTA) of the head showed diffusely decreased caliber of the right M1 segment, appearing worse compared to prior studies. CTA of the head and neck demonstrated a new cut-off of the distal right M3 segment with an asymmetric paucity of arborizing vessels within the right middle cerebral artery (MCA) distribution, consistent with progressive sickle cell vasculopathy and also demonstrated abnormal dilated collateral vessels. Further imaging with MRI exhibited multiple prior ischemic strokes in various vascular territories despite previous revascularization surgery with a left superficial temporal artery to MCA bypass. The patient's progressive cerebrovascular disease was attributed to sickle cell vasculopathy exacerbated by MMS, resulting in compromised cerebral perfusion through distinct pathological mechanisms. Management involved a multidisciplinary treatment approach, including chronic transfusions, antiplatelet therapy, surgical revascularization with extracranial-intracranial bypass, seizure management, and neuropsychiatric support. Despite maximal therapy, the patient experienced recurrent cerebrovascular events and progressive neurological deficits, highlighting the challenges in controlling these intertwined disease processes. It signifies the importance of early recognition of this rare co-occurrence and implementation of prompt multidisciplinary treatment to improve outcomes.

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Many adults with sickle cell disease experience chronic, nonvaso-occlusive pain that can benefit from nonpharmacological interventions available for use in the home setting. Virtual reality (VR) 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 VR for home-based chronic pain management have not yet been reported. This qualitative, descriptive pilot study explored the knowledge and perceptions of VR among adults with sickle cell and their experience with using in-home VR 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) VR as another world, and 3) experience of using in-home VR. Based on preliminary data, VR shows promise as a strategy for nonpharmacological management of chronic pain in adults with sickle cell. However, further investigations are warranted to mitigate the challenges and limitations associated with using VR in this capacity. PERSPECTIVE: Few evidence-based, nonpharmacological interventions exist for chronic pain in adults with sickle cell disease. This first qualitative, pilot study of in-home VR for chronic pain in adults with sickle cell disease suggests that VR interventions need further exploration as a nonpharmacological strategy for mitigating their pain in the home setting.

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INTRODUCTION: Glomerular hyperfiltration is highly frequent, theoretically dependent on cardiac output, low systemic vascular resistance and hemolysis markers. In sickle cell disease (SCD), hyperfiltration is an extremely common phenomenon and occurred in young and early adult patients. Despite the fact that the glomerular hyperfiltration is known as the early manifestations of sickle cell nephropathy, its burden among adult sickle cell disease in sub-Saharan is poor studied. This study aimed to determine the prevalence and associated factors of hyperfiltration. METHODS: This was an analytical multicentric cross-sectional study involving stable adult sickle cell patients in Kinshasa, recruited between March and October 2023. Parameters of interest encompasses demographic, clinical, biological, echocardiographic and pulse wave measurement data. Hyperfiltration was defined using the CDK-EPI equation based on cystatin C; eGFR >130 for women and >140 ml/min/1.73m2 for men. We used multivariate logistic regression analysis to search determinants of glomerular hyperfiltration. RESULTS: Two hundred and fourty six (246) patients with SCD were enrolled. The prevalence of hyperfiltration was 20.7%. In multiple logistic regression analysis, hyperfiltration status was independently associated with age (< 25 years) [3.57 (1.78-7.49); p = 0.027)], female sex [4.36 (2.55-5.62); p = 0.031), CRP (< 6 mg/l) [0.77 (0.61-0.97); p = 0.028)], central systolic pressure (< 100 mmHg) and central diastolic pressure (< 60 mmHg) [0.86(0.74-0.98), p = 0.028)], [(0.83 (0.71-0.98); p = 0.032)]. CONCLUSION: One out of five SS adults exhibits hyperfiltration, which is associated with young age and female sex, whereas low CRP and blood pressure were negative risk factors.

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Anemia Falciforme , Taxa de Filtração Glomerular , Humanos , Masculino , Feminino , Adulto , Estudos Transversais , Anemia Falciforme/fisiopatologia , Anemia Falciforme/complicações , Anemia Falciforme/epidemiologia , República Democrática do Congo/epidemiologia , Prevalência , Adulto Jovem , Fatores de Risco , Modelos Logísticos , Pessoa de Meia-Idade , Cistatina C/sangue , Fatores Etários

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Sickle cell disease (SCD) is a genetic disorder predominantly affecting individuals of African descent, with a significant global health burden. SCD is characterized by intravascular hemolysis, driven by the polymerization of mutated hemoglobin within red blood cells (RBCs), leading to vascular inflammation, organ damage, and heme toxicity. Clinical manifestations include acute pain crises, hemolytic anemia, and multi-organ dysfunction, imposing substantial morbidity and mortality challenges. Current therapeutic strategies mitigate these complications by increasing the concentration of RBCs with normal hemoglobin via transfusion, inducing fetal hemoglobin, restoring nitric oxide signaling, inhibiting platelet-endothelium interaction, and stabilizing hemoglobin in its oxygenated state. While hydroxyurea and gene therapies show promise, each faces distinct challenges. Hydroxyurea's efficacy varies among patients, and gene therapies, though effective, are limited by issues of accessibility and affordability. An emerging frontier in SCD management involves harnessing endogenous clearance mechanisms for hemolysis products. A recent work by Heggland et al. showed that CD-36-like proteins mediate heme absorption in hematophagous ectoparasite, a type of parasite that feeds on the blood of its host. This discovery underscores the need for further investigation into scavenger receptors (e.g., CD36, SR-BI, SR-BII) for their possible role in heme uptake and detoxification in mammalian species. In this review, we discussed current SCD therapeutics and the specific stages of pathophysiology they target. We identified the limitations of existing treatments and explored potential future developments for novel SCD therapies. Novel therapeutic targets, including heme scavenging pathways, hold the potential for improving outcomes and reducing the global burden of SCD.

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Folic acid (FA) supplementation in sickle cell disease (SCD) patients lead to accumulation of unmetabolized folic acid (UMFA) which might influence the level of cytokines and NK cell activity and thus trigger the crisis event. The aim of the study was to investigate the effect of UMFA levels on immuno-inflammatory markers in SCD patients taking FA supplementation. The cross-sectional study was conducted on 60 HbSS confirmed SCD cases with 22 crisis and 38 cases at steady state of 15-40 years age group. Serum FA, 5-Methyl Tetrahydrofolate (5-MTHF), Dihydrofolate reductase, Interleukin-6 (IL-6), Highly sensitive C-Reactive Protein (HsCRP), and natural killer (NK) cell activity were estimated. More than 50% of the study population depicted presence of UMFA. The median UMFA level was significantly elevated in crisis group (131.8 ng/mL) as compared to the steady state group (36.31 ng/mL) (p = 0.041). The median value of HsCRP was significantly higher in the crisis group (18.41 mg/L) than the steady state group (2.04 mg/L) (p = 0.003). Similarly, IL-6 was higher in crisis group (13.29 pg/mL) than steady state group (5 pg/mL) (p = 0.060). The median NK cell activity was 39.28 nmol/L in crisis group and 35.31 nmol/L in steady state groups (p = 0.889). In bivariate correlation analysis, UMFA showed a significant negative correlation with NK cell activity (r = - 0.638; p = < 0.001) and a positive correlation with IL-6 (r = 0.571; p = 0.001) and HsCRP (r = 0.237; p = 0.200). Accumulation of UMFA affect NK cell activity, thus influence the vulnerability for crisis state. Therefore, dosage modification for FA supplementation in SCD patients is suggested.

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Cases of sickle cell disease with dengue during pregnancy have rarely been reported. Sickle cell disorder is one of the most commonly inherited genetic disorders, especially in certain regions of India. Sickle cell disease, especially in pregnancy, has varying clinical severity, which may potentially lead to serious complications, negatively affecting the maternal and fetal outcomes. Dengue is commonly seen in tropical countries. Serotypes 1, 2, 3, and 4 of the dengue virus cause dengue, an infection spread by Aedes aegypti mosquitos. A 24-year-old primigravida with 36 weeks of gestation, with a known case of sickle cell disease and a history of multiple blood transfusions, presented to the emergency department with a history of fever for four days associated with body pains and chills. Her fever profile was sent, and the patient was diagnosed with dengue. She was treated with packed red cell transfusion and conservatively managed. She went into spontaneous preterm labour and delivered a healthy female child. Pregnancy-related pathophysiological changes, such as elevated blood volume, elevated metabolic demand, elevated blood viscosity, and hypercoagulability, combined with dengue fever complications, cause sickle cell disease patients to experience a higher rate of morbidity and mortality.

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STUDY OBJECTIVES: Sleep-disordered breathing (SDB) is prevalent in children with sickle cell disease (SCD) and is associated with worse outcomes. This study aims to compare the outcomes of polysomnography (PSG) performed for pediatric patients with SCD at three United States centers. METHODS: We included children with SCD aged 0-21 who underwent PSG at three American Academy of Sleep Medicine accredited centers: the University of Alabama at Birmingham (UAB), the University of Florida (UF), and Duke University Hospital (DUH), between 2012 and 2022. Descriptive statistics were used as appropriate to compare the baseline characters and PSG outcomes among the different centers. RESULTS: A total of 210 children with SCD from the three centers were included, with comparable sex, SCD genotypes, hemoglobin, hematocrit levels, and chronic transfusion. Children from the different centers exhibited variations in age (P < .001), BMI (P < .05), mean corpuscular volume (P < .05), and hydroxyurea use (P < .05) at the time of the PSG. Overall, the three centers showed significantly different PSG outcomes. Patients from UF had worse obstructive sleep apnea, oxygenation, and periodic leg movement events, together with lower hydroxyurea usage. While those from DUH showed higher hypoventilation and arousal indices. CONCLUSIONS: This multicenter study underscores variations in PSG outcomes among pediatric SCD patients at different centers in the Southeast United States. These findings emphasize the need for standardized approaches to screen for SDB, refer to PSG, and interpret the results in children with SCD. These conclusions may apply to other genetic disorders associated with an increased risk of sleep-disordered breathing.

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INTRODUCTION: The incidence of feto-maternal complications is high in women with sickle cell disease. The paucity of high-quality evidence has led to conditional recommendations for transfusional support in pregnant patients. This study aimed to assess if scheduled partial red cell exchanges impact pregnancy outcomes in sickle cell disease patients. METHODS: Forty-seven pregnancies were divided into two groups based on whether patients received scheduled partial red cell exchanges. Collected data included demographics, laboratory values, number of hospital visits, and prenatal/perinatal/postnatal outcomes. Data were analyzed using descriptive statistics, t-test, Chi-square and Fisher's exact tests, and binary regression. RESULTS: The mean age was 25.09 ± 4.39 years. Of 47 patients, 14 (29.8%) received scheduled red cell exchanges with 78.6% compliance with no evidence of alloimmunization. This procedure during pregnancy was associated with fewer admissions for pain crises (p=0.032), higher gestational age at delivery (p=0.007), and a lower incidence of neonatal intensive care admissions (p=0.011; odds ratio: 0.071; 95% confidence interval: 0.008-0.632). Logistic regression did not show any significant associations. CONCLUSIONS: Sickle cell disease patients with complications in previous pregnancies, including high hospitalization/admission rates and preterm deliveries, could benefit from scheduled partial red cell exchanges or simple transfusions. Further research is needed to guide clinical practice pertaining to transfusional support in pregnant patients with sickle cell disease.