Crise vaso-occlusive drépanocytaire sévère: aspects cliniques, étiologiques et thérapeutiques au CHU Sylvanus Olympio de Lomé / Clinical, aetiological and therapeutic features of severe sickle cell related vaso-occlusive crisis at the Sylvanus Olympio University Hospital, Lomé

Introduction: la crise vaso-occlusive (CVO) est la plus fréquente manifestation de la drépanocytose et la première cause d´hospitalisation des enfants atteints. L´objectif de cette étude est de décrire les aspects cliniques des CVO sévères, de déterminer les étiologies des syndromes infectieux qui les accompagnent et de décrire leur prise en charge. Méthodes: il s'agit d'une étude transversale descriptive portant sur 137 drépanocytaires majeurs hospitalisés pour CVO sévères du 1er janvier 2009 au 31 décembre 2011 dans le service de pédiatrie du CHU Sylvanus Olympio. Résultats: les drépanocytaires homozygotes SS étaient les plus nombreux (n=98; 71,5%), suivis des doubles hétérozygotes SC (n=28; 20,5). Le délai moyen de consultation était de 4,7 ± 4,4 jours. Le traitement avant l´admission comportait des antibiotiques (28,5%). Les CVO étaient surtout ostéo-articulaires (70,8%). Dans 98,5% des cas, une infection bactérienne associée a été confirmée (48,9%) ou présumée (49,6%). Les principales étiologies étaient le syndrome thoracique aigu (26,3%), l´ostéomyélite aiguë (10,9%), l´infection urinaire (6,6%), la septicémie (3,6%). Un germe a été isolé chez 14,6% des patients, Escherichia coli (30%) étaient en tête suivi de Klebsiella pneumoniae (25%), Staphylococcus aureus (15%), Salmonella typhi (10%), Streptococcus pneumoniae (5%), le Streptocoque D (5%), l´Enterobacter (5%) et l´Acinetobacter (5%). Le taux de mortalité était de 2,2%. La durée moyenne d´hospitalisation était de 11,4 ± 8,8 jours. Conclusion: les CVO drépanocytaires sévères sont en majorité associées aux infections bactériennes en milieu tropical. Une antibiothérapie adaptée et précoce constitue le moyen thérapeutique indispensable pour prévenir ou traiter ces patients.

Introduction: vaso-occlusive crisis (VOC) is the most common manifestation of sickle cell disease and the leading cause of hospitalization among affected children. The purpose of this study is to describe the clinical features of severe VOCs, to determine the etiologies of infectious syndromes that accompany them and to describe their management. Methods: we conducted a descriptive cross-sectional study of 137 adult patients with sickle cell disease hospitalised for severe VOC in the Paediatric Department of the Sylvanus Olympio University Hospital from 1 January 2009 to 31 December 2011. Results: the majority of patients (n=98; 71.5%) had homozygous sickle cell (SS), followed by double heterozygous SC disease (n=28; 20.5). The median of consultation time was 4.7 ± 4.4 days. Treatment before admission was based on antibiotics (28.5%). VOCs were mainly osteoarticular (70.8%). In 98.5% of cases, an associated bacterial infection was confirmed (48.9%) or suspected (49.6%). The main etiologies included acute chest syndrome (26.3%), acute osteomyelitis (10.9%), urinary tract infection (6.6%) and septicaemia (3.6%). One germ was isolated from 14.6% of patients: Escherichia coli (30%), followed by Klebsiella pneumoniae (25%), Staphylococcus aureus (15%), Salmonella typhi (10%), Streptococcus pneumoniae (5%), Streptococcus D (5%), Enterobacter (5%) and Acinetobacter (5%). Mortality rate was 2.2%. The average length of stay in hospital was 11.4 ± 8.8 days. Conclusion: severe sickle cell related vaso-occlusive crisis is mainly associated with bacterial infections in tropical environments. Appropriate and early antibiotic therapy is the essential therapeutic means to prevent or treat these patients.

Colestasis intrahepática drepanocítica a propósito de un casoy revisión de la literatura / Sickle cell intrahepatic cholestasis regarding a case and reviewof the literature

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)

Frequency of the DI*A, DI*B and Band 3 Memphis polymorphism among distinct groups in Brazil

ABSTRACT Introduction: The Band 3 is a red blood cell protein that carries the Dia and Dib antigens from the Diego blood system. The SLC4A1 gene encodes Band 3; Band 3 Memphis is a polymorphism of normal Band 3 and has two variants, but only the variant II carries the Dia antigen. Objectives: Describe the frequencies of the DI*A and DI*B alleles and the Band 3 Memphis among blood donors, sickle cell disease (SCD) patients and Amazonian Indians. Methods: A total of 427 blood samples were collected and separated into three groups: 206 unrelated blood donors, 90 patients with SCD and 131 Amazonian Indians. We performed DI*A/B, normal Band 3 and Band 3 Memphis genotyping, using the Polymerase Chain Reaction Restriction Fragment Length Polymorphism (PCR-RFLP). Results: The frequency of the DI*A/DI*A genotype was 0.5% in blood donors and it was not found in other groups. The frequency of the DI*A/DI*B was higher in Amazonian Indians (33.6%) and the frequency of the DI*B/DI*B was highest in blood donors (92.2%). All 105 individuals tested were positive for the presence of normal Band 3 and of these individuals, only 5/105 (4.8%) presented the Band 3 Memphis mutation. Conclusion: We observed a higher frequency of the DI*B allele in blood donors and a low frequency of the DI*A/DI*A genotype in all groups studied. The Band 3 Memphis was found in a higher frequency in the blood donor group. Our findings highlight the importance of analyzing different population groups to gain a better understanding of the genetic association of blood group antigens.

Iron profile of pregnant sickle cell anemia patients in Odisha, India

ABSTRACT Introduction: During pregnancy, the iron requirement increases to meet the optimal growth of the fetus and prevent iron deficiency anemia-related complications in the mother. However, in sickle cell disease (SCD) primarily due to repeated blood transfusions and hemolysis-induced recycling of iron, its supplementation during pregnancy remains questionable and may be harmful. Methods: Twenty-five pregnant women with homozygous SCD and 25 pregnant women with normal hemoglobin variants were included as cases and control, respectively. Pregnancy and sickle cell anemia (SCA) were diagnosed using standard protocols. The serum iron, serum ferritin, total iron-binding capacity (TIBC), percentage transferrin saturation and C-reactive protein were estimated, as per the manufacturer's protocol. The complete blood count was performed. The unpaired 't-test' was performed using the SPSS v23.0 and the principal component analysis (PCA) was performed using the online software MetaboAnalyst for statistical analysis. Main Results: The studied cases had significantly lower mean hemoglobin and higher mean corpuscular volume (MCV), compared to controls. The mean serum-iron, serum-ferritin and percentage transferrin-saturation in the cases were significantly higher than that of the controls, while the TIBC was lower in the cases (p < 0.0001). The mean level of serum iron, ferritin, percentage transferrin saturation and TIBC were 309.44 ± 122.40mcg/dl, 860.36 ± 624.64ng/ml, 42.6 ± 17.30% and 241.32 ± 96.30 mcg/dl, respectively, in the cases and 95.36 ± 41.90mcg/dl, 122.28 ± 49.70ng/ml, 15.83 ± 3.10% and 492.6 ± 149.40mcg/dl in the controls, respectively. Higher MCV, mean corpuscular hemoglobin (MCH) and mean corpuscular hemoglobin concentration (MCHC) with lower hemoglobin (Hb) were noted in the cases. The PCA revealed that the cases were more heterogeneous in terms of the variability of the iron status and hematological indices than the controls. Conclusion: The current study shows iron sufficiency in most cases of pregnancy with SCA and suggests that evaluation of iron status must be made before initiating iron prophylaxis in pregnant women with SCA, especially in regions having a high prevalence of sickle cell hemoglobinopathy.

Prejudice impairing quality of life in sickle cell disease patients in a developing country: faces of suffering

ABSTRACT Introduction: The perception of prejudice against, and stigmatization of, sickle cell disease (SCD) leads the patient to perceive a different treatment, due to the disease stigma and maybe related to a worse quality of life (QoL). Objectives: Describe and evaluate the perception of the prejudice against the disease and its impact on the quality of life of patients with sickle cell disease. Methods: This is a cross-sectional study conducted between March 2019 and February 2020, with patients diagnosed with SCD. Patients were questioned about the perception of prejudice in any kind of situation, choosing between "Yes" or "No", not differentiating situations related to prejudice. To assess the QoL and impact of the disease, the volunteers answered a version of the SF-36 questionnaire translated and validated into Brazilian Portuguese. Results: In this study, 113 patients with SCD were followed up, 92% were classified as HbSS and the rest, divided between HbSC and HbS-β-0. Regarding the SF-36, the worst scores were in the summary of the physical components (mean 48.19 ± 21.51) and the physical aspect had the lowest mean (30.75 ± €42.65). When questioned if they had already perceived any kind of prejudice, including the SCD, 32.74% answered "Yes". For this comparison, there was a significant difference in the summary of the physical and mental components, with worse QoL for those who had already suffered prejudice. Conclusion: Patients diagnosed with SCD who reported perception of prejudice had statistically significant worse QoL, revealing the negative impact, that might lead to sadness and social isolation.

Craniofacial abnormalities and malocclusion findings in sickle cell disease related to ethnic-racial populations: a critical review of the literature

Introduction: sickle Cell Disease (SCD) is an inherited, hematological, chronic disease that mostly affects racial/ethnic groups. The dental literature discusses SCD's oral symptoms, such as malocclusion and craniofacial abnormalities, without considering the significance of a racial/ethnic perspective. Objective: this article critically reviewed the findings of the studies based on a racial/ethnic standpoint and SCD landmarks. Sources of data: primary and secondary searches selected 146 studies from four scientific literature databases. Two reviewers independently extracted data from eleven included studies. Synthesis of data: most studies used lateral cephalometry and reported craniofacial abnormalities and malocclusions, such as maxillary protrusion, class II skeletal patterns, vertical facial growth patterns, convex facial profile, mandibular retrusion, and the posterior rotation of the jaw. However, there is no mention of racial or ethnic cephalometric patterns to support these findings in the studied populations. In addition, a misunderstanding occurs when overlooking the different periods of growth or ages within and between the studied groups. Furthermore, there is no mention of previous orthodontic treatment. By contrast, there is a lack of information about the medically compromised health status of people with SCD, such as the life period of SCD's diagnosis; the number and timing of blood transfusions; the medical history of hospitalizations, vaso-occlusive crises, or hydroxyurea use. Conclusion: racial and ethnic concerns for the diagnosis of malocclusions and craniofacial anomalies, as well as SCD landmarks, are underappreciated in the examined dental literature. Discarding them also demonstrates institutional racism.

Introdução: a doença falciforme é uma doença hematológica, hereditária, crônica, que afeta principalmente, a população negra, em escala global. Na literatura odontológica, os achados craniofaciais e oclusais relacionados à doença falciforme são discordantes, mas, em comum, desconsideram a perspectiva racial. Objetivo: este artigo revisou criticamente a literatura odontológica e discutiu os achados encontrados na perspectiva racial/étnica. Fonte dos dados: estudos primários e secundários selecionaram 146 ocorrências de quatro bases de dados da literatura científica. Dois revisores extraíram independentemente os dados dos onze estudos incluídos. Síntese dos dados: com base na cefalometria lateral, a maioria dos estudos concluiu que as anormalidades craniofaciais e maloclusões, como protrusão maxilar, padrão esquelético de classe II, padrão de crescimento facial vertical, perfil facial convexo, retrusão mandibular e rotação posterior da mandíbula foram os mais comuns achados para pessoas com doença falciforme. No entanto, ao considerar a perspectiva étnico-racial, não há menção na maioria dos estudos de ajustes dos padrões cefalométricos específicos para as populações racializadas, nem tampouco são consideradas características do grupo populacional e da doença falciforme em si, como sua severidade, o momento de vida em que o diagnóstico ocorreu, número e período de hemotransfusões, internações, crises vaso-oclusivas ou uso de hidroxiureia. Além disso, a ampla faixa etária em diferentes períodos de crescimento ósseo e a ausência de informação sobre tratamento ortodôntico prévio foram observadas. Conclusão: há omissão sobre considerações étnico-raciais para relatar anormalidades craniofaciais e maloclusões sobre doença falciforme na literatura odontológica revisada. Isto pode ser uma expressão do racismo.

Sickle cell anemia: hierarchical cluster analysis and clinical profile in a cohort in Brazil

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.

Conhecimento de enfemeiras sobre a criança com doença falciforme / Conocimiento de enfemeiras sobre el niño con enfermedad falciforme / Knowledge of nurses about children with sickle cell disease

Objetivo: conhecer a percepção das enfermeiras sobre a criança com doença falciforme. Método: pesquisa qualitativa Convergente-Assistencial, ocorrida em hospital público pediátrico, da qual participaram 12 enfermeiras da emergência no período de julho de 2020 a abril de 2021, após submissão ao Comitê de Ética. As técnicas de coleta de dados foram: sondagem do conhecimento por entrevista semiestruturada, grupos de convergência e observação participante. Os dados foram analisados conforme referencial da Pesquisa Convergente-Assistencial e suas fases, sendo elas concepção, instrumentalização, teorização, transferência e análise. Resultados: as enfermeiras reconheceram a doença pela principal manifestação clínica, a crise álgica, a qual foi citada como característica marcante da criança com doença falciforme. Considerações finais: as enfermeiras atuantes na emergência pediátrica conhecem alguns aspectos da doença falciforme e revelaram conhecimento incipiente sobre a fisiopatologia da doença.

Objetivo: conocer la percepción de las enfermeras sobre el niño con enfermedad falciforme. Método: Investigación cualitativa Convergente-Asistencial, ocurrida en hospital público pediátrico, de la cual participaron 12 enfermeras de la emergencia en el período de julio de 2020 a abril de 2021, tras sumisión al Comité de Ética. Las técnicas de recolección de datos fueron: sondeo del conocimiento por entrevista semiestructurada, grupos de convergencia y observación participante. Los datos fueron analizados conforme referencial de la Investigación Convergente-Asistencial y sus fases, siendo ellas concepción, instrumentalización, teorización, transferencia y análisis. Resultados: las enfermeras reconocieron la enfermedad por la principal manifestación clínica, la crisis álgica, la cual fue citada como característica distintiva del niño con enfermedad falciforme. Consideraciones finales: las enfermeras que actúan en la emergencia pediátrica conocen algunos aspectos de la enfermedad falciforme y revelaron conocimiento incipiente sobre la fisiopatología de la enfermedad.

Objective: to know the perception of nurses about the child with sickle cell disease. Method: qualitative Convergent-Care research, occurred in a public pediatric hospital, in which 12 emergency nurses participated from July 2020 to April 2021, after submission to the Ethics Committee. The data collection techniques were: survey of knowledge by semi-structured interview, convergence groups and participant observation. The data were analyzed according to the referential of the Convergent-Care Research and its phases, being them conception, instrumentalization, theorization, transfer and analysis. Results: the nurses recognized the disease by the main clinical manifestation, the pain crisis, which was cited as a striking characteristic of the child with sickle cell disease. Final considerations: the nurses working in the pediatric emergency know some aspects of sickle cell disease and revealed incipient knowledge about the pathophysiology of the disease.

Prevalencia de factores asociados al acceso venoso periférico difícil en población pediátrica en un hospital chileno / Prevalence of factors associated with difficult peripheral venous access in a paediatric population in a Chilean hospital / Prevalência de fatores associados ao acesso venoso periférico difícil em uma população pediátrica em um hospital chileno

INTRODUCCIÓN: La mitad de las instalaciones pediátricas de un catéter venoso periférico resultan ser en el contexto de un paciente, un acceso venoso difícil, definido como instalación de un catéter venoso periférico frustrado en la primera punción. Actualmente se utiliza como herramienta predictiva de acceso venoso difícil el DIVAscore, sin embargo, existen investigaciones que proponen nuevos factores asociados, surgiendo la necesidad de estudiarlos en profundidad. OBJETIVO: Identificar la prevalencia de factores asociados al acceso venoso difícil en pacientes pediátricos atendidos en el servicio de cirugía de un hospital en Chile, 2022. METODOLOGÍA: Investigación cuantitativa descriptiva transversal con muestreo intencionado. Fueron incluidos pacientes de edad entre 0a 14 años cumplidos con acceso venoso difícil. Para investigar estos antecedentes clínicos, se seleccionaron 5 de los más mencionados en la literatura: Obesidad, Diabetes, Anemia de Células Falciformes, Quimioterapia y Diálisis. Se utilizó una grilla de cotejo realizada Ad Hoc, los resultados fueron analizados mediante un software y el intervalo de confianza fue de 95%. RESULTADOS: La mediana de edad fue de 1 año, con un rango intercuartílico de 3. El antecedente evaluado más prevalente en los pacientes con acceso venoso difícil fue obesidad, presente en el 31% de la muestra y el segundo, fue anemia de células falciformes, presente en un 5%. CONCLUSIONES: Se evidenció una amplia diferencia entre las variables estudiadas, siendo obesidad la de mayor prevalencia; la investigación logró el propósito de aportar evidencia que ayude a la toma de decisiones para el cuidado del capital venoso del paciente.

INTRODUCTION: Half of the pediatric installations of a peripheral venous catheter turn out to be in the context of a patient, a difficult venous access, defined as the installation of a peripheral venous catheterfrustrated in the first puncture. Currently, the DIVAscore is used as a predictive tool for difficult venous access, however, there is research that proposes new associated factors, arising the need to study them in depth. AIM:To identify the prevalence of factors associated with difficult venous access in pediatric patients treated in the surgery service of a hospital in Chile, 2022. METHODOLOGY: Cross-sectional descriptive quantitative research with purposive sampling. Patients aged 0 to 14 years with difficult venous access were included. To investigate these clinical antecedents, 5 of the most mentioned in the literature were selected: Obesity, Diabetes, Sickle Cell Anemia, Chemotherapy and Dialysis. An Ad Hoc comparison grid was used, the results were analyzed using software and the confidence interval was 95%. RESULTS:The median age was 1 year, with an interquartile range of 3. The most prevalent antecedent evaluated in patients with difficult venous access was obesity, present in 31% of the sample and the second, was sickle cell anemia, present in 5%. CONCLUSIONS: A wide difference was evidenced between the variables studied, with obesity being the most prevalent; the research achieved the purpose of providing evidence that helps decision-making for the care of the patient's venous capital.

INTRODUÇÃO: Metade das instalações pediátricas de um cateter venoso periférico acaba por ser no contexto de um paciente, um acesso venoso difícil, definido como a instalação de um cateter venoso periférico frustrado na primeira punção. Atualmente, o DIVAscore é utilizado como ferramenta preditiva para acesso venoso difícil, entretanto, há pesquisas que propõem novos fatores associados, surgindo a necessidade de estudá-los a fundo. OBJETIVO: Identificar a prevalência de fatores associados à dificuldade de acesso venoso em pacientes pediátricos atendidos no serviço de cirurgia de um hospital no Chile, 2022. METODOLOGIA: Pesquisa quantitativa descritiva transversal com amostragem intencional. Foram incluídos pacientes de 0 a 14 anos com acesso venoso difícil.Para investigar esses antecedentes clínicos, foram selecionados 5 dos mais citados na literatura: Obesidade, Diabetes, Anemia Falciforme, Quimioterapia e Diálise. Uma grade de comparação Ad Hoc foi usada, os resultados foram analisados usando software eo intervalo de confiança foi de 95%.RESULTADOS: A mediana de idade foi de 1 ano, com intervalo interquartil de 3. O antecedente mais prevalente avaliado em pacientes com acesso venoso difícil foi a obesidade, presente em 31% da amostra e o segundo, foi aanemia falciforme, presente em 5 %. CONCLUSÕES: Evidenciou-se ampla diferença entre as variáveis estudadas, sendo a obesidade a mais prevalente; A pesquisa atingiu o objetivo de fornecer evidências que auxiliem na tomada de decisão para o cuidado com o capital venoso do paciente.

Plasma lipid levels in relation to disease severity in sickle cell anaemia in Abakaliki, Southeast Nigeria

Dyslipidaemia has been implicated in the pathophysiology of sickle cell disease (SCD) complications; hence its role requires further elucidation. Objectives: To investigate the relationship between disease severity and plasma lipid levels of patients with sickle cell anaemia. Methods: A cross-sectional study design was used for the survey. A total of 50 patients with sickle cell anaemia and 50 controls without SCD were recruited for the study. The clinical data and plasma lipid levels of lipids and haemoglobin parameters were analysed. Results: The majority of the participants were aged 18-25 years. Total plasma cholesterol and HDL-C were significantly lower in individuals with SCA compared with the controls (3.3±1.2 vs 4.2±1.2; p<0.001) and (1.3±0.5 vs 1.5±0.4; p = 0.038) respectively. Most patients with SCA had moderate disease severity (24; 48%). There was no statistically significant difference in the plasma levels of total cholesterol and HDL-C across the disease severity groups of SCA (p = 0.694 and 0.262). There was also no significant correlation between total cholesterol, HDL-C, and markers ofhaemolysis, haemoglobin F, and haemoglobin S levels. Conclusion: SCA is characterised by lower mean plasma TC and HDL than controls. However, no relationship was found between TC, HDL levels and SCD disease severity, markers of haemolysis, HbF and HbS levels. Further studies are required to ascertain the implications of plasma lipid levels in SCD

Repercussions of sickle cell disease and sickle cell ulcers for men inserted in the world of work / Repercusiones de la anemia de células falciformes y de las úlceras falciformes para los hombres insertados en el mundo del trabajo / Repercussões da anemia falciforme e das úlceras falcêmicas para homens inseridos no mundo do trabalho

ABSTRACT Objective: To analyze the repercussions of sickle cell disease and sickle cell ulcer for men in the world of work and discuss the challenges faced to remain in the work environment. Method: A qualitative study, developed at the dressing clinic and at a stomatherapy clinic. Twenty men with sickle cell disease and sickle cell ulcer participated, applying a semi-structured interview script. The software Interface de R pour les Analyses Multidimensionnelles de Textes et de Questionnaires was used for treatment and lexical data analysis. Results: The Descending Hierarchical Classification enabled the creation of classes: Man with sickle cell disease and sickle cell ulcer: experiences and repercussions; and Coping measures adopted by men with sickle cell disease and sickle cell ulcer to stay at work. Conclusion: Disease and injury repercussions involve biopsychosocial dimensions, highlighting the need for professional training to assist with competence and humanity. Strategies adopted to maintain work are breaks in the working day, use of analgesics to relieve pain, allocating time during work to apply dressings.

RESUMEN Objetivo: Analizar las repercusiones de la drepanocitosis y la drepanocitosis para hombres que actúan en el mundo del trabajo y discutir los desafíos enfrentados para permanecer en el ambiente de trabajo. Método: Estudio cualitativo, desarrollado en la clínica de vendajes y en una clínica de estomaterapia. Participaron 20 hombres con drepanocitosis y drepanocitosis, aplicando un guión de entrevista semiestructurada. Para el tratamiento y análisis léxico de los datos se utilizó el software Interface de R pour les Analyses Multidimensionnelles de Textes et de Questionnaires. Resultados: La Clasificación Jerárquica Descendente permitió la creación de clases: Hombre con anemia falciforme y úlcera falciforme: experiencias y repercusiones; y Medidas de afrontamiento adoptadas por el hombre con enfermedad de células falciformes y úlcera falciforme para permanecer en el trabajo. Conclusión: las repercusiones de la enfermedad y lesión involucran las dimensiones biopsicosociales, destacando la necesidad de formación profesional para asistir con competencia y humanidad. Las estrategias adoptadas para mantener el trabajo son pausas en la jornada laboral, uso de analgésicos para aliviar el dolor, asignación de tiempo durante el trabajo para aplicar curas.

RESUMO Objetivo: Analisar as repercussões da doença falciforme e da úlcera falcêmica para homens que atuam no mundo do trabalho e discutir os desafios enfrentados para se manterem no ambiente laboral. Método: Estudo qualitativo, desenvolvido no ambulatório de curativo e em uma clínica de estomaterapia. Participaram 20 homens com doença falciforme e úlcera falcêmica, aplicando-se roteiro de entrevista semiestruturado. Utilizou-se o software Interface de R pour les Analyses Multidimensionnelles de Textes et de Questionnaires, para tratamento e análise lexical dos dados. Resultados: A Classificação Hierárquica Descendente possibilitou a criação das classes: Homem com doença falciforme e úlcera falcêmica: vivências e repercussões; e Medidas de enfrentamento adotadas pelo homem com doença falciforme e úlcera falcêmica para manutenção no trabalho. Conclusão: As repercussões da doença e lesão envolvem as dimensões biopsicossociais, evidenciando a necessidade de capacitação dos profissionais para assistir com competência e humanidade. As estratégias adotadas para manutenção no trabalho são pausas na jornada laboral, uso de analgésicos para aplacar a dor, destinação de tempo durante o trabalho para realização dos curativos.

Follow-up of children with sickle cell anemia screened with transcranial Doppler and enrolled in a primary prevention program of ischemic stroke

ABSTRACT Background: Stroke is a serious complication of sickle cell anemia (SCA). The transcranial Doppler (TCD) is the risk-screening tool for ischemic strokes. The objective of the study was to describe the clinical progression of children with SCA who presented with high risk for stroke by TCD or relevant changes by magnetic resonance angiography (MRA) and underwent the regular transfusion program (RTP) and/or hydroxyurea (HU) treatment between 2007 and 2018. Method: This was a neonatal retrospective/prospective cohort study with children born between 1999 and 2014 with the homozygotic form (HbSS) or Sβ0-thalassemia who underwent TCD at least once. Results: Of the 718 children screened during this period, 675 had HbSS and 43 Sβ0-thalassemia. In 54 children (7.5%), all with HbSS, a high-risk TCD (n = 45) or, when the TCD was inconclusive, an MRA with cerebral vasculopathy (n = 9) was used for detection. Of these, 51 started the RTP and the families of three refused treatment. Of the 43 children with a highrisk TCD who initiated the RTP, 29 (67.4%) reverted to low risk. In 18 of them (62%), HU was started at the maximum tolerated dose (MTD) before transfusion discontinuation. None of these 29 patients had a stroke. Eight children (18.6%) maintained a high-risk TCD, even using the RTP/HU and two had a stroke. Conclusions: The TCD was confirmed as a viable tool for tracking patients with a risk for stroke. The RTP was effective in preventing the primary event. New strategies are necessary to prevent stroke using HU and new drugs, in addition to bone marrow transplantation.

HemoTypeSC point-of-care testing shows high sensitivity with alkaline cellulose acetate hemoglobin electrophoresis for screening hemoglobin SS and SC genotypes

ABSTRACT Introduction: By providing timely actionable results for prompt management, point-of-care testing (POCT) kits have revolutionised medical care for various diseases, ranging from infectious diseases like malaria to genetic disorders, such as sickle cell disease (SCD). They are, however, underutilised in the diagnosis of SCD in developing countries, where the need is greatest. Objective: The study was aimed at assessing the sensitivity of HemoTypeSC POCT among a cohort of children with SCD, previously diagnosed by Alkaline cellulose acetate hemoglobin electrophoresis (ACAE), with or without high-performance liquid chromatography (HPLC). Methods: In this descriptive cross-sectional study, HemoTypeSC test was conducted on all participants and its sensitivity was determined by comparing results with those obtained using ACAE. Discordance was verified with HPLC. Results: One hundred and forty-five children aged one to 19 years were studied. There were 84 males and 61 females (male: female ratio = 1.4:1). The HemoTypeSC was able to correctly diagnose sickle cell anemia (SCA) and hemoglobin SC in all (100%) of the children tested. Conclusion: The HemoTypeSC shows high sensitivity in detecting SCA and hemoglobin SC. Hence, it is useful for targeted screening of individuals suspected of having SCD, leading to rapid diagnosis of these hemoglobinopathies, even in resource-constrained settings.

Hemoglobin S identification in blood donors: A cross section of prevalence

ABSTRACT Introduction: In Brazil, the sickle cell trait (SCT) has an average prevalence of 4% in the general population and 6-10% among Afro-descendants. Although SCT is highly prevalent, a large segment of the population ignores their status. The Therapeutic Guidelines prohibit the transfusion of SCT red blood cells into patients with hemoglobin disorders or severe acidosis and newborns. Methods: This was a cross-sectional study with data from 37,310 blood donation candidates. The study included only eligible first-time donors qualified to be tested for the presence of hemoglobin S (HbS) at the Fundação Hemominas Juiz de Fora, Brazil. The variables studied were gender, skin color, age, type of donation, place of birth, blood type, result of the solubility test for hemoglobin S (HbST) and hemoglobin electrophoresis (HbEF). Statistical analysis was performed using the Q square test and the Kappa index of agreement for comparing biochemical methods. This project was approved by the National Research Ethics Committee. Results: The analysis of first-time donor data showed that 7166 were considered eligible. A total of 127 of the 7166 donors were carriers of SCT (1.77%). Among the blood donors, 73.23% were from the local area. The HbST and HbEF were found to be 100% in concordance. Sensitivity was not tested in the present study. Conclusions: The HbST is highly specific for identifying the HbS, but sensitivity was not tested in this study. The screening of blood donors for abnormal hemoglobins is useful, helping to detect and counsel heterozygous people. The study seeks to identify the prevalence of SCT in a region of Brazil.

Maternal and perinatal outcomes in pregnant women with sickle cell disease: an update

ABSTRACT Introduction: The aim of this study was to describe maternal and perinatal outcomes in pregnant women with sickle cell disease (SCD) followed at Santa Casa de Sao Paulo over a 10-year period (between 2010 and 2019). Method: Fifty-five records of pregnancies were analyzed among 35 women with SCD. Results: Among 29 newborns, 19 (65.5%) were full-term and 10 pre-term; 24 (82.7%) caesareans and 5 (17.2%) natural births were observed. The mean gestational age at birth and mother's age were 36.6 weeks (30-40) and 26.7 years (17-39), respectively. No maternal death was observed. The main maternal obstetric and non-obstetric complications were: preeclampsia and gestational diabetes, and vaso-occlusive crisis, urinary tract infection and acute chest syndrome, respectively. Twenty-six (47.0%) fetal deaths were observed, 24 being intrauterine fetal (14 early abortions, 10 late abortions and 2 stillbirths). Regarding the red blood cell transfusion history, 40 (72.7%) out of 55 pregnancies received transfusion. Pregnant women who received 6 or more transfusions throughout pregnancy had a significantly lower number of abortions, i.e., no cases of early abortion and only 1 case of late abortion, versus 14 and 9 cases in pregnancies with 0-5 transfusions, respectively. Despite advances in the management of SCD, pregnant women with SCD (particularly those with HbSS) are at a high risk for maternal and fetal complications, even though they are followed in reference centers. Conclusion: The lower risk of intrauterine fetal death for those women who received more transfusions throughout pregnancy observed in the current study leads us once more to raise the need for prospective, multicenter, randomized trials to determine whether the potential benefits balance the risks of prophylactic transfusions.

Impacto del diagnóstico prenatal del Programa Nacional para la Prevención de Anemia Falciforme en la incidencia de hemoglobinopatías en Santiago de Cuba / Impact of the prenatal diagnosis of the National Program for the prevention of sickle-cell anemia in the incidence of hempoglobimopathies in Santiago de Cuba

Introducción: El nacimiento de personas con hemoglobinas SS y SC promovió la creación en Cuba de un programa de prevención que incluye el diagnóstico prenatal de estas hemoglobinopatías. Objetivo: Mostrar el impacto del diagnóstico prenatal en la incidencia de anemia drepanocítica y de enfermedad heterocigótica compuesta SC. Métodos: Se realizó un estudio descriptivo, retrospectivo, de corte transversal, en el Departamento Provincial de Genética Médica del Hospital Docente Infantil Sur Dr. Antonio María Béguez César en Santiago de Cuba, que abarcó un período de tres decenios más un sexenio (de 1984 a 2019), de los 713 fetos y niños en los que se detectó anemia de células falciformes. Para establecer el diagnóstico prenatal se realizó electroforesis de hemoglobina a las embarazadas -durante los primeros años con el equipo Habana y a partir del 2012 con la tecnología Hydrasys-. Resultados: Del total de casos diagnosticados, se interrumpió el embarazo en 44,3 %, con un incremento significativo de los abortos provocados por esta causa al transcurrir los años, a saber: 23,7 % en el primer decenio, 46,1 % en el segundo y 68,1 % en el tercero; mientras que en el período 2014-2019 fue de 59,3 %. Por consiguiente, disminuyó el nacimiento de niños enfermos de 76,3 % en los inicios del estudio a 53,9 y 31,9 % en el segundo y tercero decenios, respectivamente, y por último a 40,7 % en el sexenio. Conclusiones: El diagnóstico prenatal de la anemia de células falciformes SS y la enfermedad heterocigótica compuesta SC constituye el pilar fundamental para la prevención de estas hemoglobinopatías.

Introduction: The birth of people with SS and SC hemoglobine justified the creation of a prevention program in Cuba which includes the antenatal diagnosis of these hemoglobinopathies. Objective: To show the impact of the antenatal diagnosis in the incidence of sickle-cell anemia and of the composed heterocigotic disease SC. Methods: A descriptive restrospective and cross-sectional study was carried out in the Provincial Department of the Teaching Southern Pediatric Hospital Antonio María Béguez César in Santiago de Cuba, which included three decades and a sexennium (from 1984 to 2019), of the 713 fetuses and children in whom sickell-cell anemia was diagnosed. To establish the prenatal diagnosis, hemoglobine electrophoresis to all pregnant women, -During the first years with Havana equipment and from 2012 on, with the technology Hydrasys-. Results: From the total of diagnosed cases, pregnancy was interrupted in 44,3 %, with a significant increase of aborptions provoked due to this cause with the passing of years: 23.7 % in the first decenium, 46.1 in the second and 68.1 % in the third, while in the period 2014-2019 it was 59.3 %. Due to this, the births of sick children to from 76.3 % at the beggining of the study to 53.9 and 31.9 respectively, and finally to 40.7 % in the sexenium 2014-2019. Conclusions: The prenatal diagnosis of sickel-cell anemia SS and SC constitutes the key stone for the prevention of these hemoglobinopathies.

Main Complications during Pregnancy and Recommendations for Adequate Antenatal Care in Sickle Cell Disease: A Literature Review / Principais complicações durante a gestação e recomendações para o cuidado antenatal na doença falciforme: Revisão da literatura

Abstract Sickle cell disease (SCD) is the most common monogenic disease worldwide, with a variable prevalence in each continent. A single nucleotide substitution leads to an amino-acid change in the β-globin chain, altering the normal structure of hemoglobin, which is then called hemoglobin S inherited in homozygosity (HbSS) or double heterozygosity (HbSC, HbSβ), and leads to chronic hemolysis, vaso-occlusion, inflammation, and endothelium activation. Pregnant women with SCD are at a higher risk of developing maternal and perinatal complications. We performed a narrative review of the literature considering SCD and pregnancy, the main clinical and obstetrical complications, the specific antenatal care, and the follow-up for maternal and fetal surveillance. Pregnant women with SCD are at a higher risk of developing clinical and obstetric complications such as pain episodes, pulmonary complications, infections, thromboembolic events, preeclampsia, and maternal death. Their newborns are also at an increased risk of developing neonatal complications: fetal growth restriction, preterm birth, stillbirth. Severe complications can occur in patients of any genotype. We concluded that SCD is a high-risk condition that increases maternal and perinatal morbidity and mortality. A multidisciplinary approach during pregnancy and the postpartum period is key to adequately diagnose and treat complications.

Resumo Doença falciforme (DF) é a condição genética mais comum no mundo, com uma prevalência variável nos continentes. A substituição de um nucleotídeo muda um aminoácido na cadeia da β globina, e altera a estrutura normal da hemoglobina, que é então chamada de hemoglobina S, e pode ser herdada em homozigose (HbSS) ou heterozigose (HbSC, HbSβ), e leva a hemólise crônica, vaso-oclusão, inflamação, e ativação endotelial. Realizou-se uma revisão narrativa da literatura considerando doença falciforme e gestação, as complicações clínicas e obstétricas, o cuidado antenatal específico, e o seguimento para monitoramento materno e fetal. Gestantes com DF têm maior risco de desenvolver complicações clínicas e obstétricas, como crises dolorosas, complicações pulmonares, infecções, eventos tromboembólicos, préeclâmpsia, e morte materna. E seus recém-nascidos correm maior risco de desenvovler complicações neonatais: restrição de crescimento fetal, prematuridade e óbito fetal/ neonatal. Complicações graves podem ocorrer em qualquer genótipo da doença. Concluiu-se que DF é uma condição de alto risco que aumenta a morbimortalidade materna e perinatal. Um seguimento com abordagem multidisciplinar na gestação e puerpério é fundamental para o diagnóstico e o tratamento das complicações.

Association between inflammatory molecules, nitric oxide metabolites and leg ulcers in individuals with sickle cell anemia

Abstract Introduction Leg ulcers (LUs) are relatively common in patients with sickle cell anemia (SCA). The role of inflammation and nitric oxide (NO) pathways in the pathophysiology of the LU is not understood. Objective The aim of this study was to verify the association between inflammatory molecules and nitric oxide metabolites (NOx) and the occurrence of the LU in patients with SCA. Method It was a cross-sectional study on adult participants with SCA followed at Fundação Hemominas, a public blood center in Brazil. Eligible participants were recruited and included in one of two groups: Group 1, comprised of cases with SCA (Hb SS) and at least one LU at the time of inclusion in the study and Group 2, comprised of controls with SCA without a history of LU, matched by sex and age to cases. Participants were interviewed to obtain sociodemographic data and blood samples were collected. Clinical and laboratory data were abstracted from medical records. Nitric oxide metabolites (NOx) and inflammatory molecules were quantified using an immunoassay and Multiplex xMAP® technology, respectively. Eighty-seven individuals were included, ranging in age from 17 to 61 years (mean 40 ± 10.7 years); 30 had LU and 57 were controls without LU. Results Participants with LU had significantly higher levels of interleukin 8 (IL-8), IL-10, IL-15, NOx and platelet and white blood cell (WBC) counts, when compared to those without LU. Participants with LU had a significantly higher risk of having a history of osteomyelitis and a higher use of antiseptic soap in bathing, when compared to those without LU. Conclusion In conclusion, our results showed that NOx, inflammatory molecules and hematological features were associated with LU in Brazilian adults with SCA.

Bibliometric analysis of global sickle cell disease research from 1997 to 2017

Abstract Introduction Sickle cell disease is an autosomal recessive genetic disease caused by a single point mutation in the β-globin chain of the hemoglobin. It has been recognized by the World Health Organization as a public health priority since 2006. Methods The Scopus database was used in this study with the search descriptors: "sickle cell" and "sickle cell disease". We applied common bibliometric indicators to evaluate the trend in scientific literature in sickle cell disease research. Results We retrieved a total of 19,921 pieces of scientific literature in the repertoire from 1997 to 2017. The Price law was fulfilled in the trend of production of scientific literature on SCD as the growth of scientific literature was more exponential (r = 0.9751; r2 = 0.9509) than linear (r = 0.9721; r2 = 0.9449). We observed a duplication time of 4.52 years. The Bradford core was made up of 69 journals with Blood at the top, publishing the greatest number of articles. The most productive institutions were mostly United States agencies and hospitals. The United States was the most productive country. The National Institute of Health was the most productive institution and also had the highest number of citations. Vichinsky E was the most productive author, while the most cited article was published by Circulation. Conclusion The growth of scientific literature in Sickle cell disease was found to be high. However, the exponential growth trend shows a "yet-to-be-explored" area of research. This study will be useful for physicians, researchers, research funders and policy-cum-decision makers.