Consensus of the Brazilian Association of Hematology, Hemotherapy and Cellular Therapy (ABHH) and the Brazilian Ministry of Health - General management of blood and blood products on the tests necessary for the release of exceptional medicines for sickle cell disease

Abstract To date, hydroxyurea is the only effective and safe drug that significantly reduces morbidity and mortality of individuals with Sickle cell disease. Twenty years of real-life experience has demonstrated that hydroxyurea reduces pain attacks, vaso-occlusive events, including acute chest syndrome, the number and duration of hospitalizations and the need for transfusion. The therapeutic success of hydroxyurea is directly linked to access to the drug, the dose used and adherence to treatment which, in part, is correlated to the availability of hydroxyurea. This consensus aims to reduce the number of mandatory exams needed to access the drug, prioritizing the requesting physician's report, without affecting patient safety.

Desarrollo y validación del contenido de un instrumento para la atención de mujeres embarazadas con anemia de células falciformes / Development and Content Validation of an Instrument Covering Care for Pregnant Women with Sickle Cell Disease / Desenvolvimento e validação de conteúdo de instrumento para cuidados às gestantes com doença falciforme

Introdução: a escassez de debates sobre o cuidado de enfermagem às gestantes com doença falciforme no país e a urgente necessidade de intervenção e melhorias na assistência de enfermagem prestada às essas mulheres, motivaram este estudo. Além disso, em instrumentos para uso em pesquisa e/ou na prática clínica, a validade é um atributo essencial. Objetivo: desenvolver e validar um instrumento para cuidados às gestantes com doença falciforme. Materiais e método: estudo metodológico, de validação de conteúdo com juízas(es) especialistas. O instrumento foi estruturado com 19 diagnósticos de enfermagem que abordaram as dimensões biológica, psíquica e social, e 126 intervenções de enfermagem. Utilizou-se a técnica Delphi, com participação de 18 juízas(es). Os resultados foram analisados por meio do índice de validade de conteúdo e nível de concordância acima de 0,80. Resultados: dos 145 itens analisados, 22 (15,17 %) apresentaram índice de validade de conteúdo < 0,80, e os ajustes sugeridos pelas(os) juízas(es) foram implementados. O índice de validade de conteúdo geral do instrumento foi calculado em 0,87. O instrumento alcançou parâmetros aceitáveis de validade de conteúdo, segundo o critério utilizado. Conclusões: destaca-se o potencial do instrumento, que pode ser aprimorado a partir do seu uso, como recurso na orientação das práticas de enfermagem voltadas às mulheres grávidas com doença falciforme, nos âmbitos da atenção primária à saúde e da rede hospitalar.

Introducción: la escasez de debates sobre la atención de enfermería a gestantes con anemia de células falciformes en el país y la urgente necesidad de intervención y mejora de los cuidados de enfermería prestados a esas mujeres motivaron la realización de este estudio. Además, la validez es un atributo esencial en los instrumentos para uso en investigación y/o práctica clínica. Objetivo: elaborar y validar un instrumento de atención a gestantes con anemia de células falciformes. Material y método: estudio metodológico, de validación de contenido con jueces/as expertos/as. El instrumento se estructuró con 19 diagnósticos de enfermería que abordaban las dimensiones biológica, psicológica y social, y 126 intervenciones de enfermería. Se utilizó la técnica Delphi, con la participación de 18 jueces/as. Los resultados se analizaron utilizando el índice de validez de contenido y un nivel de acuerdo superior a 0,80. Resultados: de los 145 ítems analizados, 22 (15,17 %) tenían un índice de validez de contenido < 0,80, y se aplicaron los ajustes sugeridos por los/las jueces/as. El índice global de validez de contenido del instrumento se calculó en 0,87. El instrumento alcanzó parámetros de validez de contenido aceptables, según los criterios utilizados. Conclusiones: se destaca el potencial del instrumento, que puede ser perfeccionado a través de su utilización como recurso para orientar las prácticas de enfermería dirigidas a gestantes con anemia de células falciformes, tanto en la atención primaria de salud como en la red hospitalaria.

Introduction: The lack of discussions on nursing care for pregnant women with sickle cell disease in Brazil and the urgent need for intervention and improvements in the nursing care provided to these women sparked this study. In addition, validity is an essential attribute for instruments used in research and/or clinical practice. Objective: To develop and validate an instrument covering the care of pregnant women with sickle cell disease. Materials and methods: This is a methodological, content validation study conducted with specialist judges. The instrument was structured with 19 nursing diagnoses that addressed the biological, psychological, and social dimensions, as well as 126 nursing interventions. The Delphi technique was used with the participation of 18 judges. The results were analyzed using the content validity index and a level of agreement above 0.80. Results: Of the 145 items analyzed, 22 (15.17 %) scored a content validity index < 0.80, and the adjustments suggested by the judges were implemented. The instrument's general content validity index was calculated at 0.87. The instrument reached acceptable content validity parameters, according to the criteria used. Conclusions: The instrument's potential stands out, and it can be improved through its use as a resource for guiding nursing practices directed to pregnant women with sickle cell disease, both in primary health care and in hospital networks.

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.

Real-world evidence of the burden of sickle cell disease: a 5-year longitudinal study at a Brazilian reference center

ABSTRACT Introduction: Sickle cell disease (SCD) is an inherited and multisystem blood disorder characterized by hemolytic anemia, vaso-occlusive crises (VOCs), progressive multiorgan damage and increased mortality. In Brazil, it is one of the most common monogenic diseases afflicting 60,000 to 100,000 individuals, however, there are sparse epidemiological data, as well as information on the utilization of public healthcare resources. Method: This was a 5-year (2016 - 2020) retrospective study conducted at one Brazilian reference center on SCD - Santa Casa de Sao Paulo, in Sao Paulo, Brazil. Results: Among a total of 100 eligible adult patients, the median age was 31.0 years old, 84% of the patients were aged between 18 and 45 years old; 59% were women and 91% presented the genotype HbSS. The number of hematologist and non-hematologist visits at the outpatient unit were 2,198 and 1,436, respectively. The number of hospital ER visits was 758, of which 51% required 864 days of hospitalization. The main cause for seeking hospital medical care was the VOCs. The numbers and ratios of VOCs were: 1 to 10 VOCs, 64%; 11 to 20, 15%, and; 21 or more, 1%. There was a statistically significant difference between the number of VOCs and hospitalizations, as well as infection. Conclusion: Results indicate the burden of SCD on Brazilian patients' daily lives, the impact of VOCs on public healthcare resources, the importance of having a national surveillance program to improve resource utilization and clinical outcomes of patients with SCD and the urgent need for the revitalizing of the current national comprehensive SCD care programs.

Clinical, laboratory, and molecular characteristics of a cohort of children with hemoglobinopathy S/betathalassemia

ABSTRACT Introduction: Hemoglobinopathy Sβ-thalassemia (HbSβ-thal) has a wide range of clinical and laboratory severity. There is limited information on the natural history of HbSβ-thal and its modulating factors. We described the molecular, hematological, and clinical characteristics of a cohort of children with HbSβ-thal and estimated its incidence in Minas Gerais, Brazil. Methods: Laboratory and clinical data were retrieved from medical records. Molecular analysis was performed by HBB gene sequencing, PCR-RFLP, gap-PCR, and MLPA. Results: Eighty-nine children were included in the study. Fourteen alleles of β-thal mutations were identified. The incidence of HbSβ-thal in the state was 1 per 22,250 newborns. The most common βS-haplotypes were CAR and Benin. The most frequent βthal-haplotypes were V, II, and I. Coexistence of 3.7 kb HBA1/HBA2 deletion was present in 21.3 % of children. β-thalassemia mutations were associated with several clinical and laboratory features. In general, the incidence of clinical events per 100 patient-years was similar for children with HbSβ0-thal, IVS-I-5 G>A, and IVS-I-110 G>A. Children with HbSβ+-intermediate phenotypes had a more severe laboratory and clinical profile when compared with those with HbSβ+-mild ones. βS-haplotypes and α-thalassemia did not meaningfully influence the phenotype of children with HbSβ-thal. Conclusion: The early identification of b-thalassemia alleles may help the clinical management of these children. © 2023 Associação Brasileira de Hematologia, Hemoterapia e Terapia Celular. Published by Elsevier España, S.L.U. This is an open access article under the CC BY-NC-ND license

Doença falciforme e o efeito modulador da vitamina D em crianças: uma revisão integrativa / Sickle cell disease and the modulating effect of vitamin D in children: an integrative review

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.

Necrosis avascular de la cabeza del fémur en un paciente pediátrico con drepanocitosis: a propósito de un caso / Avascular necrosis of the femoral head in a sickle cell disease pediatric patient: case report

Resumen La drepanocitosis o anemia de células falciformes es una hemoglobinopatía hereditaria que se transmite de forma autosómica recesiva, la cual está asociada con episodios de dolor agudo y daño progresivo a órganos blanco que producen un gran impacto en la esperanza y la calidad de vida de quienes la padecen. La necrosis avascular de la cabeza del fémur es una complicación bien conocida en los pacientes con drepanocitosis presente hasta en un 25 % de los pacientes adultos y tanto en un 12 % de los pacientes pediátricos. A continuación, se presenta el caso de un paciente masculino de 9 años con drepanocitosis, quien en cita de control refirió 15 días de coxalgia y claudicación de la marcha. Tras realizar estudios radiológicos se documentó una necrosis avascular de la cabeza del fémur, convirtiéndose de esta manera en el primer caso documentado en el Hospital Nacional de Niños de Costa Rica de un paciente pediátrico con una necrosis avascular de la cadera del fémur como complicación de su drepanocitosis.

Sickle cell disease is an autosomic recessive hereditary hemoglobin disorder, associated with episodes of acute pain and progressive organ damage with great impact on a patient's life expectancy and quality of life. Avascular necrosis of the femoral head is a well-known complication of sickle cell disease affecting almost 25% of adult patients and just in 12% of pediatric patients. Below is the case of a 9-year-old male patient with sickle cell disease, who on a control appointment reported 15 days of hip pain and gait claudication. After performing radiological studies, avascular necrosis of the femoral head was diagnosed, becoming the first case documented at the National Children Hospital of Costa Rica of avascular necrosis of the femoral head as a complication in a pediatric patient with sickle cell disease.

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.

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.

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.

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.

Prevención de hemoglobinopatías en el Policlínico 28 de septiembre, municipio Santiago de Cuba / Hemoglobinopathy Prevention in 28 de Septiembre Outpatient Polyclinic, of Santiago de Cuba Municipality

Introducción: La anemia de células falciformes es un defecto funcional que afecta la hemoglobina, tiene carácter hereditario y una elevada frecuencia en la población cubana. Objetivo: Caracterizar el programa de prevención de hemoglobinopatías en el Policlínico 28 de septiembre, municipio Santiago de Cuba. Métodos: Se realizó un estudio descriptivo, retrospectivo de corte longitudinal en 6055 gestantes, estudiadas por electroforesis de hemoglobina o cuya condición era conocida con anterioridad durante el período enero 2011 a diciembre 2020 hemoglobinopatías en el Policlínico 28 de septiembre del municipio Santiago de Cuba. Se analizaron las variantes de hemoglobinas, su frecuencia, la proporción de esposos estudiados, parejas de alto riesgo detectadas, diagnósticos prenatales realizados y sus resultados. Se utilizó la estadística descriptiva para el análisis de los datos. Resultados: De las gestantes, 7,18 por ciento resultó portadora de alguna variante de hemoglobina. Se logró estudiar 92,64 por ciento de los cónyuges, donde el aborto resultó la causa más significativa de no estudio. Se detectaron 27 parejas de alto riesgo, fueron realizados 22 diagnósticos prenatales (81,50 por ciento) y se diagnosticaron cuatro fetos portadores de hemoglobinopatía SS por estudio molecular, cuyos progenitores optaron por la terminación de la gestación en el marco del asesoramiento genético. Conclusiones: La caracterización del programa de hemoglobina en gestantes nos permitió identificar la frecuencia de portadoras dentro del grupo estudiado, así como la efectividad del asesoramiento genético ofrecido a las parejas de alto riesgo en el primer nivel de atención al no reportarse nacidos vivos con la enfermedad en el área de salud durante el decenio(AU)

Introduction: Sickle cell anemia is a functional defect that affects hemoglobin. It is of a hereditary nature and highly frequent among the Cuban population. Objective: To characterize the hemoglobinopathies prevention program in 28 de Septiembre outpatient Polyclinic, of Santiago de Cuba Municipality. Methods: A descriptive, retrospective and longitudinal study was carried out, during the period from January 2011 to December 2020, with 6055 pregnant women, studied by hemoglobin electrophoresis or whose condition was previously known. The hemoglobin variants, their frequency, the proportion of studied spouses, the identified high-risk couples, the performed prenatal diagnoses and their results were analyzed. Descriptive statistics were used for data analysis. Results: Of the pregnant women, 7.18 percent presented some hemoglobin variant. It was possible to study 92.64 percent of the spouses, while abortion was the most significant unstudied cause. Twenty-seven high-risk couples were identified, 22 prenatal diagnoses were performed (81.50 percent), and four fetuses were diagnosed, by molecular study, to present sickle cell anemia as a hemoglobinopathy, whose parents opted for pregnancy termination within the framework of genetic counseling. Conclusions: The characterization of the hemoglobin program in pregnant women allowed us to identify the frequency of carriers within the studied group, as well as the effectiveness of genetic counseling offered to high-risk couples at the first level of care, since no live births were reported with the disease in the health area during the decade(AU)

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.