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.
OBJECTIVE: To evaluate the impact of oral health conditions on the quality of life (QoL) of children and adolescents with SCA.
METHODS: 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).
CONCLUSIONS: Oral health impairment negatively affected the QoL of adolescents with SCA.

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.
CONCLUSIONS: 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.

UNASSIGNED: 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.
UNASSIGNED: 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.
UNASSIGNED: 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).
UNASSIGNED: 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.
UNASSIGNED: بحثت دراسة الحالات والشواهد هذه في وضع وظائف الكريات البيضاء في فقر الدم المنجلي لتحديد الأمراض المناعية الأساسية للتشخيص المبكر والتخفيف من خطر العدوى البكتيرية المتزايدة في هذه الفئة من المرضى.
UNASSIGNED: تسعون مشاركا يضمون 24 هيموجلوبين-أ أ و22 هيموجلوبين-أ س و23 حالة ثابتة من هيموجلوبين-س س و21 حالة أزمة انسداد الأوعية الدموية هيموجلوبين-س س تم استقطابهم لهذه الدراسة. تم تصنيف الموضوعات أيضا إلى ست مجموعات، أي موضوعات هيموجلوبين-أ أ وموضوعات هيموجلوبين-أ س كمجموعات مراقبة، موضوعات هيموجلوبين-س س في حالة مستقرة، موضوعات هيموجلوبين-س س في حالة أزمة انسداد الأوعية الدموية، موضوعات هيموجلوبين-س س الخاضعة للأدوية، ومجموعة هيموجلوبين-س س التي تخضع للعلاج بالإضافة إلى مجموعة نقل الدم على التوالي. تم تقييم تحليل الدم، والرحلان الكهربائي للهيموجلوبين، ونسب الكريات البيضاء، والمقايسات الوظيفية للكريات البيضاء باستخدام الطرق القياسية، وتم تقييم مستويات انترليوكن-8 و إل-سيليكتن باستخدام إليزا.
UNASSIGNED: تم زيادة إجمالي عدد الكريات البيضاء والوحيدات في مجموعات هيموجلوبين-س س مقارنة بمجموعات التحكم. ومع ذلك، كان لدى مجموعات هيموجلوبين-س س عدد أقل من الخلايا الليمفاوية مقارنة بالمجموعات الأخرى. تمت زيادة صلاحية كريات الدم البيضاء في مجموعات فقر الدم المنجلي، في حين تم تقليل أنشطة البلعمة والانفجار التنفسي التأكسدي في مجموعات فقر الدم المنجلي. لوحظت زيادة في مستويات انترليوكن-8 في جميع مجموعات فقر الدم المنجلي، ومع ذلك انخفضت مستويات إل-سيليكتن لـ هيموجلوبين-أ س الثابت و هيموجلوبين-أ س في مجموعات الأدوية مقارنة بالمجموعات الأخرى. تم العثور على نسبة العدلات إلى الخلايا اللمفاوية، ونسبة الخلايا الليمفاوية الوحيدة ونسبة الصفائح الدموية إلى الخلايا الليمفاوية لمجموعات فقر الدم المنجلي أعلى من مجموعات التحكم.
UNASSIGNED: يشكل خلل أنشطة البلعمة والانفجار التنفسي التأكسدي لكريات الدم البيضاء في مجموعات مرض فقر الدم المنجلي، مما قد يزيد من قابليتها للإصابة بالعدوى وخطر الوفاة، خاصة أثناء حالة الأزمة. يمكن تصميم الأساليب العلاجية الجديدة خصيصا لتعزيز وظائف كريات الدم البيضاء هذه والتخفيف من خطر الإصابة المتزايد في مرض فقر الدم المنجلي.

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.

Sickle cell anemia is a hereditary disease caused by sickle-shaped red blood cells that can lead to vaso-occlusive crises. Treatment options are currently limited, highlighting the need to develop new clinical approaches. Studies demonstrated that elevated levels of fetal hemoglobin (Hb F) are associated with a reduction of mortality and morbidity in sickle cell anemia patients. In light of this, researchers have been trying to elucidate the transcriptional regulation of Hb F to develop new therapeutic interventions. The present study aimed to present the main transcription factors of Hb F and discuss the clinical feasibility of these molecular targets. Two search strategies were used in the PubMed, SciELO, and LILACS databases between July and August 2023 to conduct this review. Manual searches were also conducted by checking references of potentially eligible studies. Eligibility criteria consisted of clinical trials and cohort studies from the last five years that investigated transcription factors associated with Hb F. The transcription factors investigated in at least four eligible studies were included in this review. As a result, 56 eligible studies provided data on the BCL11A, LRF, NF-Y, GATA1, KLF1, HRI, ATF4, and MYB factors. The studies demonstrated that Hb F is cooperatively regulated by transcription factors with the BCL11A factor appearing to be the most specific target gene for γ-globin induction. Although these data are promising, there are still significant gaps and intervention limitations due to the adverse functions of the target genes. New studies that clarify the aspects and functionalities of Hb F regulators may enable new clinical approaches for sickle cell anemia patients.

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.

Sickle cell disease (SCD) is an inherited blood disorder marked by homozygosity of hemoglobin S, which is a defective hemoglobin caused by a missense mutation in the β-globin gene. However, clinical phenotypes of SCD vary among patients. To investigate genetic variants associated with various clinical phenotypes of SCD, we genotyped DNA samples from 520 SCD subjects and used a genome-wide association study (GWAS) approach to identify genetic variants associated with phenotypic features of SCD. For HbF levels, the previously reported 2p16.1 locus (BCL11A) reached genome significance (rs1427407, P = 8.58 × 10-10) in our GWAS as expected. In addition, we found a new genome-wide significance locus at 15q14 (rs8182015, P = 2.07 × 10-8) near gene EMC7. GWAS of acute chest syndrome (ACS) detected a locus (rs79915189, P = 3.70 × 10-8) near gene IDH2 at 15q26.1. The SNP, rs79915189, is also an expression quantitative trait locus (eQTL) of IDH2 in multiple tissues. For vasoocclusive episode (VOE), GWAS detected multiple significant signals at 2p25.1 (rs62118798, P = 4.27 × 10-8), 15q26.1 (rs62020555, P = 2.04 × 10-9) and 15q26.3 (rs117797325, P = 4.63 × 10-8). Our findings provide novel insights into the genetic mechanisms of SCD suggesting that common genetic variants play an important role in the presentation of the clinical phenotypes of patients with SCD.

Sickle cell disease (SCD) is characterized by central (cardiac) and peripheral vascular dysfunctions, significantly diminishing exercise capacity and quality of life. While central cardiopulmonary abnormalities in SCD are known to reduce exercise capacity and quality of life; the impact of hemolysis and subsequent cell-free hemoglobin (Hb)-mediated peripheral vascular abnormalities on those outcomes are not fully understood. Despite the recognized benefits of exercise training for cardiovascular health and clinical management in chronic diseases like heart failure, there remains substantial debate on the advisability of regular physical activity for SCD patients. This is primarily due to concerns that prolonged and/or high-intensity exercise might trigger metabolic shifts leading to vaso-occlusive crises. As a result, exercise recommendations for SCD patients are often vague or nonexistent, reflecting a gap in knowledge about the mechanisms of exercise intolerance and the impact of exercise training on SCD-related health issues. This mini-review sheds light on recent developments in understanding how SCD affects exercise tolerance, with a special focus on the roles of hemolysis and the release of cell-free hemoglobin in altering cardiovascular and skeletal muscle function. Also highlighted here is the emerging research on the therapeutic effects and safety of exercise training in SCD patients. Additionally, the review identifies future research opportunities to fill existing gaps in our understanding of exercise (in)tolerance in SCD.

The Middle Eastern prevalence of sickle cell anemia, a genetic disorder that affects red blood cells, necessitates additional research. On a molecular level, we sought to identify and sort the oral microbiota of healthy individuals and those with sickle cell anemia. Furthermore, it is crucial to comprehend how changes in the genetic makeup of the oral microbiota impact the state of sickle cell anemia. Using next-generation sequencing, the 16S rRNA amplicon was examined using saliva samples from 36 individuals with sickle cell anemia and healthy individuals. These samples were obtained from sickle cell anemia patients (18 samples) and healthy control participants (controls, 18 samples). Various analyses are conducted using bioinformatic techniques to identify distinct species and their relative abundance. Streptococcus, followed by Fusobacterium nucleatum, Prevotella, and Veillonella were the most prevalent genera of bacteria in the saliva of the SCA and non-SCA individuals according to our findings. Rothia mucilaginosa, Prevotella scoposa, and Veillonella dispar species were the dominant species in both sickle cell anemia and non-sickle cell anemia subjects. Streptococcus salivarius, Actinomyces graevenitzii, Actinomyces odontolyticus, and Actinomyces georgiae spp. were the most prevalent bacterial spp. in the studied SCA cases. The sequencing of the 16S rRNA gene yielded relative abundance values that were visualized through a heatmap analysis. Alterations in the oral microflora\'s constitution can significantly affect the susceptibility of sickle cell anemia patients to develop more severe health complications. Salivary diagnosis is a potential tool for predicting and preventing oral microbiome-related diseases in the future.

UNASSIGNED: Sickle cell disease is an inherited disorder characterized by hemoglobin S polymerization leading to vaso-occlusion and hemolytic anemia. These result in a variety of pathological events, causing both acute and chronic complications. Millions around the world are affected by sickle cell disease with predominance in sub-Saharan Africa. Hydroxyurea was the first drug approved for use in sickle cell disease to reduce the occurrence of painful crises and blood transfusions in patients with frequent, moderate to severe painful crises.
UNASSIGNED: With the development of new therapeutics, the role of hydroxyurea is evolving. This narrative review aims to provide clinical data, safety information, and supplementary evidence for the role of hydroxyurea in the current era of sickle cell disease. A comprehensive literature search of databases, including PubMed and Cochrane Library, was conducted from 1963 to 2024.
UNASSIGNED: Even though new medications have been approved for sickle cell disease, hydroxyurea remains the gold standard. Hydroxyurea is not only a disease modifier but it has additional clinical benefits, it is affordable, and its longevity has prompted expanded research in areas such as underutilization and pharmacogenomics. As the treatment landscape evolves, hydroxyurea\'s long-standing record of efficacy and safety continues to support its role as a key agent in disease management.