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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.

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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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Objectives: Our study evaluated the association of the polymorphism rs724016 in the ZBTB38 gene, previously associated with height in other populations, with predictors of height, clinical outcomes, and laboratory parameters in sickle cell anemia (SCA). Methods: Cross-sectional study with individuals with SCA and aged between 3 and 20 years. Clinical, laboratory, molecular, and bone age (BA) data were evaluated. Levels of IGF-1 and IGFBP-3 were adjusted for BA, target height (TH) was calculated as the mean parental height standard deviation score (SDS), and predicted adult height (PAH) SDS was calculated using BA. Results: We evaluated 80 individuals with SCA. The homozygous genotype of the G allele of rs724016 was associated with a lower height SDS (p < 0.001) and, in a additive genetic model, was negatively associated with HbF levels (p = 0.016). Lower adjusted IGF-1 levels were associated with co-inheritance of alpha-thalassemia and with the absence of HU therapy. Elevated HbF levels were associated with a lower deficit in adjusted growth potential (TH minus PAH). Conclusion: Our analysis shows that SNP rs724016 in the ZBTB38 is associated with shorter height and lower HbF levels, an important modifier of SCA.

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Introduction: This study aimed to describe the evolution of bone regeneration in children with hip osteonecrosis associated with sickle cell disease, treated with bone marrow-derived mesenchymal stem cell implants at the Professor Edgar Santos University Hospital Complex. Materials and methods: A non-randomized clinical trial was conducted with 48 patients of both sexes, aged between 11 and 18 years, diagnosed with femoral head osteonecrosis secondary to sickle cell disease. Patient selection was based on strict criteria, including confirmed diagnosis of sickle cell anemia and a stage of osteonecrosis compatible with the proposed treatment. Bone regeneration assessment was performed through radiographic examinations and magnetic resonance imaging, following the Ficat & Arlet criteria and the Salter-Thompson classification. Results: Statistical analysis revealed a significant association between the patients' age and positive treatment outcomes, suggesting that autologous bone marrow cell implantation is a safe and effective approach in the early stages of osteonecrosis. The majority of patients (87.5%) reported complete pain relief, while 10.42% experienced significant symptom improvement. Only one patient (2.08%) did not observe improvement. The results indicate that cell therapy can regenerate or slow the progression of bone necrosis, reducing the need for more invasive surgical procedures. Conclusion: The study demonstrates the potential of bone marrow-derived mesenchymal stem cell implantation in treating hip osteonecrosis in children with sickle cell disease, emphasizing the importance of long-term monitoring of bone structure stability.

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OBJECTIVE: This study aims to evaluate the markers of tubular phosphate handling in adults with sickle cell anemia (SCA) and the influence of hydroxyurea (HU), the degree of anemia and Hb F concentration on these markers. METHODS: Eighty-eight steady state SCA patients in outpatient follow-up in Fortaleza, Ceara, Brazil and 31 healthy individuals were included in this study. Vitamin D (25OHD) was measured by enzyme-bound fluorescence assay, intact parathyroid hormone (iPTH) by electrochemiluminescence, and serum and urinary phosphate and creatinine by colorimetric methods. Details of Hb F and HU use were obtained from clinical records. Tubular reabsorption of phosphate (TRP) and maximum tubular reabsorption of phosphate (MTRP) were calculated. SCA patients were stratified according to the use of HU, degree of anemia and percentage of Hb F. The significance level was set for p-values <0.05. RESULTS: Compared to controls the 25OHD level (25 ± 11 vs. 30 ± 9 pg/mL) was lower in SCA, while serum phosphate and MTRP were higher (3.86 ± 0.94 vs. 3.46 ± 0.72 and 3.6 ± 1.21 vs. 3.21 ± 0.53, respectively). There was no significant difference in iPTH, TRP and phosphaturia. Serum phosphate showed correlation with TRP (r = 0.32; p-value = 0.008) and MTRP (r = 0.9; p-value <0.001) in SCA. Patients taking HU, especially those with Hb F >10 % presented reduced serum phosphate levels, and TRP and MTRP rates. Those with mild anemia presented reduced serum phosphate levels and MTRP rates. CONCLUSION: Serum phosphate levels and renal phosphate reabsorption rate were increased in SCA. HU use, high Hb F concentration and total Hb were associated with better control of tubular phosphate handling markers.

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Ischemic stroke (IS) is one of the most impairing complications of sickle cell anemia (SCA), responsible for 20% of mortality in patients. Rheological alterations, adhesive properties of sickle reticulocytes, leukocyte adhesion, inflammation and endothelial dysfunction are related to the vasculopathy observed prior to ischemic events. The role of the vascular endothelium in this complex cascade of mechanisms is emphasized, as well as in the process of ischemia-induced repair and neovascularization. The aim of the present study was to perform a comparative transcriptomic analysis of endothelial colony-forming cells (ECFCs) from SCA patients with and without IS. Next, to gain further insights of the biological relevance of differentially expressed genes (DEGs), functional enrichment analysis, protein-protein interaction network (PPI) construction and in silico prediction of regulatory factors were performed. Among the 2469 DEGs, genes related to cell proliferation (AKT1, E2F1, CDCA5, EGFL7), migration (AKT1, HRAS), angiogenesis (AKT1, EGFL7) and defense response pathways (HRAS, IRF3, TGFB1), important endothelial cell molecular mechanisms in post ischemia repair were identified. Despite the severity of IS in SCA, widely accepted molecular targets are still lacking, especially related to stroke outcome. The comparative analysis of the gene expression profile of ECFCs from IS patients versus controls seems to indicate that there is a persistent angiogenic process even after a long time this complication has occurred. Thus, this is an original study which may lead to new insights into the molecular basis of SCA stroke and contribute to a better understanding of the role of endothelial cells in stroke recovery.

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OBJECTIVE: The aim of this study was to determine the association between dental tissues and sickle cell anemia (SCA) and how it impacts the quality of life related to oral health. MATERIALS AND METHODS: It was a cohort study of 154 Congolese participants with and without SCA conducted in the dental service of SCA at the Yolo Center, Kinshasa, aged at least 6 years and without a history of clinically severe conditions (hospitalization and blood transfusion), who were regularly monitored. The inclusion criteria were the diagnosis confirmation of SCA at the health service in a period of at least 6 months before enrollment in this study. Dental tissues were assessed by a clinical examination using a dental mirror and probe. The index of Decayed-Missing-Filled Teeth (DMFT) was used to assess the dental state of the participants. For Oral Health-related Quality of Life (OHrQoL), the Congolese versions of the perception questionnaires, modified from the Oral Health Impacts Profile (OHIP-23), were used for participants. Each question had to be answered by yes or no, depending on whether the participant was satisfied (outcome = 1) or dissatisfied (outcome = 0) about an oral health-related quality of life. RESULTS: Of the 154 participants, aged from 6 to 64 years, with a mean age of 19.5 ± 7 (SD) years, 96 presented with SCA and only 68 were correctly followed; 102 did not present SCA and only 86 were correctly followed. The DMFT and dmft indexes were higher in the SCA group, being 2.9 and 2.5, respectively. The difference between the SCA group and the control group was significant for decayed teeth, missing teeth, filled teeth and no caries. Of the different dimensions of quality of life that were compared between the SCA group and control group, 15 of 23 items were statistically significant. CONCLUSION: The present study strongly confirmed an association between dental caries and missing teeth with sickle cell anemia. Secondly, the quality of life for SCA participants seems to be poor, compared to the control group.

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INTRODUÇÃO: A deficiência de Vitamina D (VD) é frequente na doença falciforme (DF) em decorrência do status inflamatório crônico, danos renais, endoteliais, hiperhemólise e melanodermia. Atualmente, a suplementação desse nutriente em falcêmicos tem se mostrado importante devido sua ação sistêmica e imunológica. OBJETIVOS: Analisar o impacto da VD em crianças com DF. MÉTODOS: Trata-se de uma revisão integrativa da literatura, onde foram analisados estudos, publicados originalmente em inglês e português, dos últimos dez anos, em humanos, tendo como referência as bases de dados MEDLINE, SciELO e LILACS. A busca foi efetuada mediante a consulta ao MeSH. Os descritores utilizados foram: "children"; "vitamin D"; "sickle cell anemia"; "supplementation". Foram identificados 32 artigos a partir da frase de pesquisa. Ao aplicar os critérios de inclusão, nove artigos foram eleitos para o estudo. RESULTADOS: A partir da análise dos artigos incluídos, 6 avaliaram a prevalência da deficiência de VD em crianças com anemia falciforme e os outros três artigos relataram sobre a suplementação de VD em crianças também com anemia falciforme. Todos os estudos mostraram que as crianças tratadas com reposição de VD tiveram uma diminuição de idas ao pronto-socorro e maior estabilidade hemodinâmica durante os tratamentos. CONCLUSÃO: Outros ensaios clínicos randomizados devem ser realizados para identificar o papel da DV na qualidade de vida e na redução da morbidade falciforme. A contribuição deste artigo é reconhecer que há evidências sobre a vitamina D fora dos ensaios clínicos randomizados.

INTRODUCTION: Vitamin D (VD) deficiency is frequent in sickle cell disease (SCD) due to chronic inflammatory status, kidney and endothelial damage, hyperhemolysis and melanoderma. Currently, the supplementation of this nutrient in sickle cell patients is important due to its systemic and immunological action. Objectives: To analyze the impact of VD in children with SCD. METHODS: This is an integrative literature review, which analyzed studies, originally published in English and Portuguese, in the last ten years, in humans, using the MedLine, SciELO and LILACS databases as References. The search was performed by consulting the MeSH. The descriptors used were: "children"; "vitamin D"; "sickle cell anemia"; "supplementation". 32 articles were identified from the search phrase. When applying the inclusion criteria, nine articles were chosen for the study. RESULTS: Among the included articles, six evaluated the prevalence of VD deficiency in children with sickle cell anemia, and the other three reported on VD supplementation in children with sickle cell anemia. All studies showed that children treated with VD replacement had a decrease in emergency room visits and greater hemodynamic stability during treatments. CONCLUSION: Further randomized controlled trials should be carried out to identify the role of VD in quality of life and in the reduction of sickle cell morbidity. The contribution of this paper is to recognize that there is evidence about vitamin D outside of randomized controlled trials.

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INTRODUCTION: Sickle cell disease (SCD) is a common hemoglobinopathy worldwide that causes painful crises and hospitalization of patients. These attacks decrease survival and cause chronic end-organ damage in these patients. HYPOTHESIS: For this reason, finding new treatment approaches could be helpful. METHOD: In this study, Imatinib was applied as a mast cell inhibitor to reduce pain crises in these patients. Seven patients resistant to hydroxyurea and folic acid treatment and who had at least four painful crises per year with hospitalization were enrolled in this study with treatment with Imatinib (100 mg, twice daily). Subsequently, the number and duration of hospitalizations, analgesic requirement, the severity of chronic pain, and changes in the hematological parameters of these patients were evaluated before and after the treatment. RESULTS: The data showed that the total number of hospitalizations and the entire duration of hospitalizations were reduced 16 times after treatment with Imatinib, without apparent changes in hematological parameters. Also, the demand for pethidine, tramadol, and nonsteroidal anti-inflammatory drugs (NSAIDs) was reduced in all patients. The average reduction in chronic pain was over 70%. CONCLUSION: This study demonstrates that treatment with Imatinib in patients with SCD or sickle cell anemia (SCA) may be a suitable therapeutic option for reducing painful crises.

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La enfermedad de células falciformes (ECF) o anemia drepanocítica, es el trastorno hereditario más frecuente en los glóbulos rojos, y la enfermedad con más complicaciones en diferentes órganos, lo que provoca múltiples presentaciones de una misma enfermedad., se hace revisión literatura sobre ECF y colestasis intrahepática drepanocítica, y se describe un caso presentado en el Hospital General y de Especialidades Nuestra Señora de la Altagracia de Higüey Republica Dominicana en el año 2022. Es un varón de 24 años, con diagnóstico de ECF, que se complicó con una colestasis intrahepática drepanocítica muy severa que se manejó con hemodiálisis. El objetivo de publicar este caso es revisar la información respecto a la incidencia y la morbimortalidad de esta complicación, teniendo en cuenta que fue tratado por un equipo multidisciplinario usando la hemodiálisis como alternativa terapéutica(AU)

Sickle cell disease (SCD) or sickle cell anemia is the most common hereditary disorder in red blood cells, and the disease with the most complications in different organs, which causes multiple presentations of the same disease. Literature review on SCD is made and sickle cell intrahepatic cholestasis,and a case presented at the Hospital General y de Especialidades Nuestra Señora de la Altagracia de Higüey in the Dominican Republic in 2022 is described. Very severe sickle cell intrahepatic disease that was managed with hemodialysis. The purpose of publishing this case is to review the information regarding the incidence and morbidity and mortality of this complication,taking into account that it was treated by a multidisciplinary team using hemodialysis as a therapeutic alternative(AU)

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Background and Objectives: To compare autonomic and vascular responses during reactive hyperemia (RH) between healthy individuals and patients with sickle cell anemia (SCA). Materials and Methods: Eighteen healthy subjects and 24 SCA patients were subjected to arterial occlusion for 3 min at the lower right limb level. The pulse rate variability (PRV) and pulse wave amplitude were measured through photoplethysmography using the Angiodin® PD 3000 device, which was placed on the first finger of the lower right limb 2 min before (Basal) and 2 min after the occlusion. Pulse peak intervals were analyzed using time-frequency (wavelet transform) methods for high-frequency (HF: 0.15-0.4) and low-frequency (LF: 0.04-0.15) bands, and the LF/HF ratio was calculated. Results: The pulse wave amplitude was higher in healthy subjects compared to SCA patients, at both baseline and post-occlusion (p < 0.05). Time-frequency analysis showed that the LF/HF peak in response to the post-occlusion RH test was reached earlier in healthy subjects compared to SCA patients. Conclusions: Vasodilatory function, as measured by PPG, was lower in SCA patients compared to healthy subjects. Moreover, a cardiovascular autonomic imbalance was present in SCA patients with high sympathetic and low parasympathetic activity in the basal state and a poor response of the sympathetic nervous system to RH. Early cardiovascular sympathetic activation (10 s) and vasodilatory function in response to RH were impaired in SCA patients.

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Inconsistent therapeutic responses have been observed among patients with sickle cell anemia (SCA) undergoing hydroxyurea (HU) following the adoption of the standardized protocol. Moreover, this treatment regimen necessitates a prolonged period to reach the maximum tolerated dose in which beneficial therapeutic effects are observed in most SCA patients. To overcome this limitation, several studies have performed HU dose adjustments in SCA patients based on individualized pharmacokinetic profiles. The present systematic mini-review aims to select and analyze published data to present an overview of HU pharmacokinetics studies performed in SCA patients, as well as evaluate the effectiveness of the dose adjustment strategy. A systematic search was performed in the Embase, Pubmed, Scopus, Web of Science, Scielo, Google Scholar, and the Virtual Library of Health databases from December 2020 to August 2022, with a total of five studies included. Inclusion criteria consisted of studies in which the dose adjustment was performed in SCA patients based on pharmacokinetic parameters. Quality analyzes were performed using QAT, while data synthesis was performed according to the Cochrane Manual of Systematic Reviews of Interventions. Analysis of the selected studies revealed improved HU treatment effectiveness using personalized dosages in SCA patients. Moreover, several laboratory parameters were utilized as biomarkers of the HU response, and methods designed to simplify the adoption of this practice were presented. Despite the scarcity of studies on this topic, HU-personalized treatment based on individualized pharmacokinetic profiles represents a viable alternative for SCA patients who are candidates for HU therapy, especially for pediatric patients. Registration number: PROSPERO CRD42022344512.

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INTRODUCTION: Serum levels of sCD40L, sCD40 and sCD62P were evaluated in sickle cell anemia (SCA) patients aged between 2 and 16 years with normal transcranial Doppler (TCD) and no stroke (G1, n = 24); in SCA patients with abnormal TCD (G2, n = 16); in SCA patients with a previous history of stroke (G3, n = 8), and; in healthy controls (aged 2 to 13 years; n = 26). RESULTS: The levels of sCD40L were significantly higher in the G1, G2 and G3 groups, compared to controls (p = 0.0001, p < 0.0002 and p = 0.004, respectively). Among patients with SCA, higher levels of sCD40L were found in the G3 group, compared to the G2 group (p = 0.03). In the sCD62P analysis, high levels in G3, compared to G1 (p = 0.0001), G2 (p = 0.03) and G4 (p = 0.01), and G2 also had high levels, compared to G1 (p = 0.04). The G1 patients had a higher sCD40L/sCD62P ratio, compared to G2 (p = 0.003) and controls (p < 0.0001). The sCD40L/sCD40 ratios were higher in G1, G2 and G3, compared to controls (p < 0.0001, p = 0.008 and p = 0.002, respectively). CONCLUSION: It was concluded that the combination of TCD abnormality, associated with levels of sCD40L and sCD62P, may contribute to a better assessment of the risk for stroke in pediatric SCA patients. Favor pedir para os autores corrigirem esta frase, pois NÃO é uma sentença completa em inglês: Our data suggest that decreased values of the s[LSM1] CD40L/sCD62P ratio involving two inflammatory mediators produced in platelet activation, being unprecedented in the literature.

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Among sickle cell anemia (SCA) complications, proliferative sickle cell retinopathy (PSCR) is one of the most important, being responsible for visual impairment in 10-20% of affected eyes. The aim of this study was to identify differentially expressed genes (DEGs) present in pathways that may be implicated in the pathophysiology of PSCR from the transcriptome profile analysis of endothelial progenitor cells. RNA-Seq was used to compare gene expression profile of circulating endothelial colony-forming cells (ECFCs) from HbSS patients with and without PSCR. Furthermore, functional enrichment analysis and protein-protein interaction (PPI) networks were performed to gain further insights into biological functions. The differential expression analysis identified 501 DEGs, when comparing the groups with and without PSCR. Furthermore, functional enrichment analysis showed associations of the DEGs in 200 biological processes. Among these, regulation of mitogen-activated protein (MAP) kinase activity, positive regulation of phosphatidylinositol 3-kinase (PI3K), and positive regulation of Signal Transducer and Activator of Transcription (STAT) receptor signaling pathway were observed. These pathways are associated with angiogenesis, cell migration, adhesion, differentiation, and proliferation, important processes involved in PSCR pathophysiology. Moreover, our results showed an over-expression of VEGFC (vascular endothelial growth factor-C) and FLT1 (Fms-Related Receptor Tyrosine Kinase 1) genes, when comparing HbSS patients with and without PSCR. These results may indicate a possible association between VEGFC and FLT1 receptor, which may activate signaling pathways such as PI3K/AKT and MAPK/ERK and contribute to the mechanisms implicated in neovascularization. Thus, our findings contain preliminary results that may guide future studies in the field, since the molecular mechanisms of PSCR are still poorly understood.

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Sickle cell anemia (SCA) is a genetic and hemolytic disease globally characterized by social vulnerability. Food consumption has been insufficiently analyzed in SCA. Secondary iron overload is often observed. This leads to unreliable recommendations for dietary iron restriction. We assessed food consumption and iron intake among adults with SCA. Considering the guidelines for healthy eating, foods were grouped according to the NOVA classification. This transversal study included 74.4% of eligible patients who were registered in the reference center for SCA treatment in Rio de Janeiro, Brazil, in 2019. Data on food consumption were collected through 24 h recall. The monthly household income of 82.3% of patients was less than $770. The consumption of fresh or minimally processed foods was directly associated with monthly household income (p < 0.0001; η2 = 0.87). Ultra-processed foods provided more than one-third of the total energy intake (35.2%). The prevalence of inadequate iron intake was about 40% among women, while that of iron intake above the tolerable upper limit was 0.8%. People from lower socioeconomic classes had the lowest iron intake. Strategies to encourage the consumption of fresh or minimally processed foods are needed considering the requirement of an antioxidant diet in SCA. These findings highlight the need for health equity to ensure food security and healthy eating in SCA.

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Chronic kidney disease (CKD) has a significant impact on sickle cell disease (SCD) morbidity and mortality. Early identification of individuals at highest risk of developing CKD may allow therapeutic intervention to prevent worse outcomes. This study aimed to evaluate the prevalence and risk factors for reduced estimated glomerular filtration rate (eGFR) among adults with SCD in Brazil. Participants in the REDS-III multicenter SCD cohort with more severe genotypes aged ≥ 18 years with at least two serum creatinine values were analyzed. The eGFR was calculated using the Jamaica Sickle Cell Cohort Study GFR equation. The eGFR categories were defined according to the K/DOQI. Participants with eGFR ≥ 90 were compared to those with those with eGFR < 90. Among the 870 participants, 647 (74.4%) had eGFR ≥ 90, 211 (24.3%) had eGFR 60 to 89, six (0.7%) had eGFR 30 to 59, and six (0.7%) had ESRD. Male sex (OR: 37.3; 95%CI: 22.4-65.1), higher age (OR: 1.04; 95%CI: 1.02-1.06), higher diastolic blood pressure (OR: 1.03; 95%CI: 1.009-1.06), lower Hb (OR: 0.80; 95%CI: 0.68-0.93), and lower reticulocytes (OR: 0.94; 95%CI: 0.89-0.99) levels were independently associated with eGFR < 90. There was a trend towards higher odds of death in participants with eGFR < 90 (OR: 1.8; 95%CI: 0.95-3.32; p = 0.065). In turn, participants with eGFR < 60 had a 12.2 (95%CI: 2.1-96.9) times higher odds for death when compared to those with eGFR ≥ 60. In this study, eGFR < 90 was observed in one-quarter of adults. Older age, male sex, higher diastolic blood pressure, lower hemoglobin, and lower reticulocyte levels were associated with occurrence of eGFR < 90. Estimated GFR < 60 increased the risk of mortality.

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Abstract Introduction Sickle cell anemia is a monogenic disorder caused by a mutation in the β-hemoglobin gene, resulting in sickle hemoglobin that can polymerize. Presentation and clinical course have significant inter-individual variability and classifying these patients for severity is a challenge. Methods We applied hierarchical clusters with 10 routine laboratory tests to understand if this grouping could be associated with clinical manifestations. We included 145 adult homozygous patients (SS) at an outpatient clinic in a retrospective study. Results We found five clusters by counting those that had been differentiated by unconjugated bilirubin, reticulocytes, LDH, leukocytes, lymphocytes and monocytes. When comparing groups to clinical findings, the clusters were different only for liver abnormality. Cluster 3 had the lower median of reticulocytes, LDH, leukocytes, lymphocytes and monocytes and a higher percentage of patients under treatment. Clusters 4 and 5 had higher frequencies of liver impairment and higher medians of reticulocytes, LDH, leukocytes, lymphocytes and monocytes. Hemolysis and inflammation seemed to influence the grouping. Conclusion In our study, cluster analysis showed five groups that exhibited different degrees of inflammation and hemolysis. When comparing clinical data, the result was different only for the criteria of liver abnormality.

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OBJECTIVE: To evaluate the functional and exercise capacity, lung function, quality of life of children and adolescents with sickle cell anemia (SCA HbSS) and to test the reproducibility of functional capacity tests in this population. METHOD: Cross-sectional study with volunteers with SCA Hb-SS (SCAG), aged 6-18 years matched in age and gender to the control group (CG) with healthy individuals. Spirometry, 5-repetition sit-to-stand test (5STS-test), modified shuttle test (MST), and Pediatric Quality of Life Questionnaire (PedsQL) were performed. The reproducibility of 5STS-test and MST was evaluated: RESULTS: Forty eight volunteers of SCAG and 48 of CG were evaluated. Lung function of SCAG (FVC: 92 ± 15% pred.; FEV1 /FVC: 84 ± 8% pred.) was worse than the CG (104 ± 15% pred.; FEV1 /FVC: 90 ± 6% pred.) p < 0.05. SCAG had worse functional capacity registered by distance walked: 576 m (515-672 m) and 5STS-test: 8 s (7.4-8.9 s) compared with the CG who showed distance walked: 1010 m (887-1219 m) and 5STS-test: 7 s (7.0-8.1 s), p < 0.001. SCAG had worse quality of life compared to CG, p < 0.05. The reproducibility of MST (ICC 0.99 (0.98-0.99 IC-95%)) and 5STS-test (ICC 0.80 (0.69-0.88) was considered good, p < 0.001. CONCLUSION: Children and adolescents with sickle cell anemia presented worse capacity to walk or run, and to perform sit-to-stand test when compared with their control peers. Additionally, they have poorer quality of life. The MST and 5STS-test showed good reproducibility to be applied in pediatric individuals with SCA.

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