Doença falciforme: cuidado com pessoas com úlcera da perna nos serviços de atenção à saúde / Sickle cell disease: caring for people with leg ulcers in heal-thcare services / Enfermedad falciforme: cuidado de personas con úlcera de pierna en los servicios de atención a la salud

Objetivo: identificar o local e os cuidados diretos recebidos por pessoas com úlceras da perna por doença falciforme nos serviços de atenção à saúde. Método: estudo transversal, realizado em 11 centros, no período de agosto de 2019 a abril de 2020. Fizeram parte do estudo 72 pessoas com úlcera da perna ativa. O estudo foi aprovado pelo Comitê de Ética em Pesquisa. Resultado: apresentavam anemia falciforme 91,7% dos participantes, com mediana de três anos de existência da úlcera; 77,8% eram redicivantes; 40,3% compravam os insumos; 66,7% trocavam o próprio curativo no domicílio; 52,8% realizavam uma ou mais trocas diárias; 45,8% dos tratamentos foram prescritos pelo médico; 37,5% eram pomada (colagenase ou antibiótico); 89% não utilizavam compressão para o manejo do edema. Conclusão: a maioria dos participantes não estava inserida na Rede de Atenção à Saúde para o tratamento da úlcera, e não recebia assistência sistematizada e nem insumos apropriados.

Objective: to identify the location and direct care received by people with leg ulcers due to sickle cell disease in health care services. Method: a cross-sectional study carried out in 11 centers from August 2019 to April 2020. The study included 72 people with active leg ulcers. The study was approved by the Research Ethics Committee. Results: a total of 91.7% of the participants had sickle cell anemia, with a median of three years of ulcer existence; 77.8% were recurrent; 40.3% bought the supplies; 66.7% changed their own dressings at home; 52.8% did one or more changes a day; 45.8% of the treatments were prescribed by physician; 37.5% were ointments (collagenase or antibiotics); and 89% did not use compression to manage edema. Conclusion: most of the participants were not included in the Health Care Network for ulcer treatment and did not receive systematized care or appropriate supplies.

Objetivo: identificar el lugar y los cuidados directos recibidos por personas con úlceras de pierna por enfermedad falciforme en los servicios de atención a la salud. Método: estudio transversal, realizado en 11 centros, en el período de agosto de 2019 a abril de 2020. Participaron 72 personas con úlcera de pierna activa. El estudio fue aprobado por el Comité de Ética en Investigación. Resultado: presentaban anemia falciforme 91,7% de los participantes, con una mediana de tres años de existencia de la úlcera; 77,8% eran recidivantes; 40,3% compraban los insumos; 66,7% cambiaban su propio vendaje en el domicilio; 52,8% realizaban uno o más cambios diarios; 45,8% de los tratamientos fueron prescritos por el médico; 37,5% eran pomada (colagenasa o antibiótico); y 89% no utilizaban compresión para el manejo del edema. Conclusión: la mayoría de los participantes no estaba integrada en la Red de Atención a la Salud para el tratamiento de la úlcera, y no recibía asistencia sistematizada ni insumos apropiados.

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.

Síndrome torácico agudo por drepanocitosis como causa de muerte súbita: Reporte de un caso y revisión de literatura / Acute chest syndrome due to sickle cell disease as a cause of sudden death: Case report and literature review

Resumen Introducción: La anemia de células falciformes se define como la hemoglobinopatía estructural autosómica recesiva más prevalente en todo el mundo, puede presentar fenómenos vasooclusivos y la anemia hemolítica que son los responsables de las principales complicaciones de esta enfermedad, una de estas es el síndrome torácico agudo, siendo una causa importante de morbilidad y mortalidad en estos pacientes. Objetivo: correlacionar los hallazgos de la autopsia médico legal, con las generalidades de la fisiopatología de la anemia de células falciformes actualizadas y disponibles. Materiales y métodos: Se realizó el análisis del protocolo de la autopsia médico legal efectuada, y revisión bibliográfica en un caso de una femenina de 37 años que en apariencia padecía de "dolor por nervio ciático", quien falleció en su casa de habitación, tras presentar un dolor intenso localizado en la espalda y disnea. Tras la autopsia médico legal se estableció como causa de muerte el síndrome torácico agudo por drepanocitosis. Conclusiones: La anemia de células falciformes se debe tener presente al momento de la valoración médico legal como una posible causa de muerte, para ello es necesario conocer la fisiopatología de esta enfermedad, y poder identificar dichas afectaciones al momento de realizar la autopsia médico legal, para esto es necesario contar con todas las herramientas posibles para poder realizar un diagnóstico certero.

Abstract Objective: To correlate the findings of the medical legal autopsy carried out with the updated and available generalities of the pathophysiology of sickle cell anemia. Materials and methods: The analysis of the protocol of the medical-legal autopsy carried out, and a bibliographic review, were carried out. A 37-year-old female who apparently suffered from "sciatic nerve pain," who died in her home after experiencing intense pain located in her back and dyspnea. After the medical-legal autopsy, acute chest syndrome due to sickle cell disease was established as the cause of death. Conclusions: Sickle cell anemia must be kept in mind at the time of the medical-legal evaluation as a possible cause of death, for this it is necessary to know the pathophysiology of this disease, and to be able to identify these effects when performing the Medical- Legal Autopsy, for this It is necessary to have all the possible tools to be able to make an accurate diagnosis.

Avaliação de incapacidade em pessoas com doença falciforme / Disability assessment in people with sickle cell / Evaluación de la discapacidad en personas con enfermedad de células falciformes

A expectativa de vida das pessoas com doença falciforme (DF) é baixa, e o agravamento da condição de saúde é frequente, gerando incapacidades. Todavia, pouco é conhecido sobre tais incapacidades com base na Classificação Internacional de Funcionalidade, Incapacidade e Saúde (CIF). Assim, o objetivo do estudo foi descrever as incapacidades de adultos com DF. Realizou-se um estudo transversal descritivo, com 60 adultos com DF, de ambos os sexos. Informações sociodemográficas, fatores clínicos relacionados ao tipo de DF foram autorreferidos pelos participantes. As incapacidades foram avaliadas por meio da Escala de Avaliação de Incapacidade da Organização Mundial da Saúde (WHODAS 2.0) nos seguintes domínios: cognição, mobilidade, autocuidado, relações interpessoais (convivência com as pessoas), atividades de vida e participação na sociedade. Em cada domínio, foi definida incapacidade quando o sujeito relatou dificuldade leve, moderada, grave ou extrema de desempenhar a tarefa. Os dados foram analisados por estatística descritiva (frequências relativas). Os resultados mostraram valores elevados em todos os domínios avaliados, com destaque para dificuldades de concentração (90%) e desempenho nas tarefas domésticas (93,3%) e impacto da situação de saúde nas finanças do sujeito/família (96,7%). Os dados deste estudo mostraram que adultos com DF apresentam elevados índices de incapacidade, especialmente no domínio cognitivo, nas atividades de vida e na participação social.

Life expectancy of people living with sickle cell disease (SCD) is in general low and the worsening of their health condition is frequent, resulting in disabilities. However, knowledge about those disabilities based on the International Classification of Functioning, Disability and Health (ICF) is scarce. Thus, this study aimed to describe the disabilities of adults with SCD. A descriptive cross-sectional study was carried out with 60 adults with SCD of both sexes. Sociodemographic and clinical factors related to the type of SCD were self-reported by the participants. Disabilities were assessed by the World Health Organization Disability Assessment Schedule (WHODAS 2.0), in the following domains: cognition, mobility, selfcare, getting along with people, life activities, and participation in society. In each domain, disability was defined when the participant self-reported light, moderate, severe, extreme difficulty, or inability to perform the task. Data analysis included descriptive statistics (relative frequencies). The results showed high values in all domains evaluated, with emphasis on difficulties on concentrating (90%) and performing household chores (93.3%) and on the impact of health condition on subject/family's financial situation (96.7%). The data from this study shows that adults with SCD present high disability levels, especially on the cognitive domain, on life activities, and on social participation.

Las personas con enfermedad de células falciformes (ECF) tienen una baja esperanza de vida, y el empeoramiento de su estado de salud es frecuente, generando discapacidades. Sin embargo, estas discapacidades son poco conocidas según la Clasificación Internacional del Funcionamiento, de la Discapacidad y de la Salud (CIF). El objetivo de este estudio fue describir las discapacidades de adultos con ECF . Se realizó un estudio transversal, descriptivo, con 60 adultos con ECF, de ambos sexos. Los factores sociodemográficos y clínicos relacionados con el tipo de ECF fueron autoinformados. Las discapacidades se evaluaron mediante la Escala de Evaluación de la Discapacidad de la Organización Mundial de la Salud (WHODAS 2.0), en los dominios de cognición, movilidad, autocuidado, convivencia con personas, actividades de la vida y participación en la sociedad. La discapacidad se definió mediante un reporte de dificultad o incapacidad leve, moderada, grave, extrema del individuo para realizar una tarea. Los datos fueron analizados por estadística descriptiva (frecuencias relativas). Los resultados mostraron altos valores de discapacidad en todos los dominios evaluados, con énfasis en las dificultades de concentración (90%), el desempeño en las tareas domésticas (93,3%) y el impacto de la situación de salud en las finanzas del sujeto/familia (96,7%). Los datos de este estudio mostraron que los adultos con ECF tienen altas tasas de discapacidad, especialmente en los dominios cognitivo, actividades de la vida y participación social.

Tracking and considerations on the therapeutic management of neuropathic pain in adult patients with sickle cell disease / Rastreamento e considerações sobre a conduta terapêutica na dor neuropática em pacientes adultos com doença falciforme

ABSTRACT BACKGROUND AND OBJECTIVES: Sickle cell disease is considered the most common hereditary disorder in Brazil. The chronic pain resulting from some complications of sickle cell disease is still poorly understood, inadequately described, and under-researched. This study aimed to characterize chronic pain in individuals with sickle cell disease, evaluate its treatment, and discuss the importance of studying it as a distinct pathology. METHODS: A cross-sectional study based on comparative analysis between two associations of sickle cell disease patients, one in Brazil and the other in France. The Pain Detect Questionnaire was used to assess neuropathic pain, and Odds Ratio was used to evaluate the strength of the association between opioid use and the recurrence of chronic painful crises. RESULTS: In Brazil, the Pain Detect questionnaire revealed that 55% of patients had a probable neuropathic component, 23% negative, and 22% uncertain. In France, the application resulted in 51% for probable presence, 29% for negative, and 20% for uncertain. All patients reported constant pain. As for the frequent use of opioids, the results were 62% in Brazil and 32% in France. The Odds Ratio calculation results were: OR 15.14 (95% CI = 4.777- 41.4, p < 0.0001) in Brazil; and OR 7.5 (95% CI = 2.121- 25.74, p = 0.0013) in France. CONCLUSION: While it is commonly believed that pain in sickle cell disease is primarily related to somatic and visceral tissue damage after vaso-occlusive events, this study indicated emerging evidence of neuropathic processes involved. Thus, there should be a significant concern about the management of chronic pain and particularly opioid dependence in Brazil.

RESUMO JUSTIFICATIVA E OBJETIVOS: Dentre as alterações hereditárias, a doença falciforme é considerada a mais comum no Brasil. A dor crônica decorrente de suas complicações ainda é mal compreendida, inadequadamente descrita e pouco pesquisada. O presente estudo teve como finalidade caracterizar a dor crônica em indivíduos com doença falciforme, avaliar o seu tratamento e discutir a importância de seu estudo como uma doença em si. METODOS: Estudo transversal, baseado na análise comparativa entre duas associações de indivíduos acometidos pela doença falciforme, com sede no Brasil e na França. Foi aplicado o questionário Pain Detect para avaliação da dor neuropática e a Odds Ratio para avaliar a intensidade de associação entre o uso de opioides e a recorrência de crises álgicas de cunho crônico. RESULTADOS: O questionário Pain Detect apontou que no Brasil 55% de pacientes da doença calciforme apresentam componente neuropático provável, 23% negativo e 22% incerto. Na França, os resultaram foram de 51% para componente provável, 29% negativo e 20% incerto. Dos acometidos pela doença, 100% relataram dores constantes, sendo que fizeram uso frequente de opioides 62% no Brasil e 32% na França. O cálculo do Odds Ratio apontou os seguintes resultados: OR 15,14 (IC 95% = 4,777- 41,4, p < 0,0001) no Brasil; e OR 7,5 (IC 95% = 2,121- 25,74, p = 0,0013) na França. CONCLUSÃO: Embora haja uma crença de que a dor na doença falciforme seja primariamente relacionada à lesão tecidual a nível somático e visceral após os eventos vasoclusivos, o estudo apontou evidências emergentes de processos neuropáticos envolvidos. Assim, deve haver uma preocupação quanto ao manejo da dor crônica e em especial à dependência química pelos opioides no Brasil.

Validating evidence for the knowledge, management and involvement of dentists in a dental approach to sickle-cell disease

Abstract This study validated the content of an instrument designed to assess the knowledge, involvement (attitudes) and management (practice) of dentists relative to sickle-cell disease (KAPD-SCD). The instrument consisted of five domains composed of a total of thirteen items: I. Dentist's self-assessment relative to sickle-cell disease; II. Dentist's knowledge of the repercussions of sickle-cell disease on the stomatognathic system; III. Dentist's knowledge of the complications of sickle-cell disease in the stomatognathic system; IV. Dentist's knowledge concerning the dental management of sickle-cell disease patients; and V. Dentist's involvement in an approach to sickle-cell disease. Twelve experts assigned scores to each item of the instrument. The criteria were clarity, understanding and appropriateness, leaving open fields for comments. Descriptive and content analyses of the data were made. Each expert analyzed 39 assessment units. The percentages considered for agreement were high (>80%), medium (70%-80%), or low (<70%), and each item was maintained or revised according to the percentage observed. There was high consensus in 74% of the assessment units (the corresponding items were maintained), medium consensus in 24% of them (the corresponding items were revised), and disagreement in 2% of them, namely as regards the "appropriateness" of item 5 ("Are there oral complications in sickle-cell disease?"), which was revised. The final version of the instrument had 16 items for different applications such as in the clinical care program, teaching program, or research program, with different cut-off scores for each application. In conclusion, the level of agreement among experts showed evidence of the content validity of the instrument.

Atenção à pessoa com anemia falciforme no contexto da Estratégia Saúde da Família: a ótica dos profissionais / Caring the patient with falciform anemia in the context of the Family Health Strategy: the views of professionals

Resumo Introdução: Na atenção à pessoa com anemia falciforme, é imprescindível um cuidado compartilhado e coordenado pela Atenção Primária à Saúde. Os profissionais de saúde da família devem se comprometer com a assistência, sendo necessária uma articulada rede de atenção à saúde. Este estudo teve por objetivo compreender as visões de profissionais de saúde da família acerca da atenção à saúde da pessoa com anemia falciforme. Método: Pesquisa qualitativa, realizada em Diamantina, estado de Minas Gerais, Brasil, com enfermeiros e médicos da Estratégia Saúde da Família (ESF). Conduziram-se entrevistas semiestruturadas com 15 profissionais — sendo, depois, submetidas à análise temática de conteúdo. Resultados: Emergiram duas categorias temáticas: "assistência à pessoa com anemia falciforme: fragilidades no contexto da Estratégia Saúde da Família" e "referência e contrarreferência na atenção: uma rede fragmentada". Revelaram-se desafios a serem superados: o acompanhamento sistemático mostrou-se incipiente, atribuiu-se a responsabilidade pelo cuidado principalmente ao serviço do hemocentro e o sistema de referência e contrarreferência apresentou fragmentação. Conclusões: No cenário da ESF, a assistência requer avanços para que seja de melhor qualidade, com efetiva atuação da equipe e rede de atenção bem estruturada.

Abstract Background: While caring the patients with sickle cell anemia, shared care coordinated by Primary Health Care is essential. Family health professionals must commit to care, and an articulated healthcare network is necessary. This study aimed to understand the visions of family health professionals about health care for patients with sickle cell anemia. Method: Qualitative research was carried out in Diamantina, state of Minas Gerais, Brazil, with nurses and physicians of the Family Health Strategy (ESF). Semi-structured interviews were conducted with 15 professionals and the results were submitted to content thematic analysis. Results: Two thematic categories emerged: "assistance to the person with sickle cell anemia: fragilities in the context of the Family Health Strategy" and "reference and counterreference in care: a fragmented network." Challenges to overcome were revealed: systematic follow-up was incipient; responsibility for care was attributed mainly to the blood center service; and the reference and counter-reference system presented fragmentation. Conclusions: In the ESF scenario, care requires advances to be of better quality, with effective team performance and a well-structured care network.

Impacto del Programa de prevención de anemia por hematíes falciformes

Introducción: la anemia de células falciformes es una enfermedad genética autosómica recesiva considerada la enfermedad hereditaria más frecuente en Cuba. El Programa Cubano de prevención de anemia por hematíes falciformes, se basa en el pesquisaje mediante estudio de electroforesis de hemoglobina a todas las gestantes, el cual es aplicado desde el año 1983. Objetivo: describir el impacto del Programa Cubano de prevención de anemia por hematíes falciformes en Granma, en el período de 1987-2021. Métodos: se realizó un estudio observacional, ambipestivo, de serie de casos en las gestantes pertenecientes a la provincia Granma en el período 1987-2021. Se revisaron las estadísticas de los departamentos municipales y provincial. Se analizaron las variables como frecuencia de portadoras, variantes de hemoglobina, cobertura de esposos estudiados, diagnóstico prenatal molecular y casos positivos. Para el análisis estadístico se emplearon medidas de resumen como frecuencias absolutas y relativas. Resultados: se comprobó que la frecuencia de portadoras de la provincia es de 3,9 %. La variante más frecuente es la Hb AS. Se estudiaron 62 % de los esposos. Se realizó el 70,3 % de los diagnósticos moleculares, de los cuales 21,3 % fue positivo optando por la terminación voluntaria de la gestación en el 69 % de ellos. Conclusiones: se logró impacto del Programa Cubano de prevención de anemia por hematíes falciformes en el período de 1987-2021 en cuanto a la detección de portadoras de la enfermedad, frecuencia de diagnósticos prenatales moleculares, enfermos e interrupciones por esta causa.

Introduction: Sickle cell anemia is an autosomal recessive genetic disease. It is considered the most common hereditary disease in Cuba. The Cuban sickle cell anemia prevention Program is based on the screening of all pregnant women by hemoglobin electrophoresis. This program has been applied since 1983. Objective: To describe the impact of the Cuban sickle cell anemia prevention Program during the period 1987-2021. Methods: An observational study was conducted on a series of cases of pregnant women belonging to the province of Granma in the period from 1987 to 2021. Municipal and provincial statistics were reviewed. Variables such as carrier frequency, hemoglobin variants, coverage of studied spouses, molecular prenatal diagnosis, and positive cases were analyzed. Summary measures such as absolute and relative frequencies were used for statistical analysis. Results: The carrier frequency in the province was found to be 3.9%. The most common variant is Hb AS. Sixty-two percent of spouses were screened. Molecular diagnosis was performed in 70.3%, of which 21.3% were positive and 69% opted for voluntary abortion. Conclusions: The Cuban Sickle Cell Disease Prevention Program has had a great impact on halting the number of carriers of the disease, the frequency of prenatal molecular diagnoses, and the number of patients with sickle cell anemia in the period 1987-2021.

Introdução: A anemia falciforme é uma doença genética autossómica recessiva, sendo considerada a doença hereditária mais comum em Cuba. O programa cubano de prevenção da anemia falciforme baseia-se no rastreio de todas as mulheres grávidas através da eletroforese da hemoglobina, que tem sido aplicado desde 1983. Objetivo: Descrever o impacto do Programa Cubano de Prevenção da Anemia Falciforme durante o período 1987-2021. Métodos: Foi realizado um estudo observacional de uma série de casos de mulheres grávidas pertencentes à província de Granma no período de 1987 a 2021. Foram revistas estatísticas municipais e provinciais. Foram analisadas variáveis como frequência de portadores, variantes de hemoglobina, cobertura de cônjuges estudados, diagnóstico pré-natal molecular e casos positivos. Para a análise estatística foram utilizadas medidas de síntese como frequências absolutas e relativas. Resultados: A frequência de portadores na província foi de 3,9%. A variante mais comum é a Hb AS. Sessenta e dois por cento dos cônjuges foram rastreados. O diagnóstico molecular foi efectuado em 70,3%, dos quais 21,3% foram positivos e 69% optaram pelo aborto voluntário. Conclusões: O Programa Cubano de Prevenção da Doença Falciforme teve um grande impacto na redução do número de portadores da doença, na frequência dos diagnósticos moleculares pré-natais e no número de pacientes com anemia falciforme no período 1987-2021.

Mortality related to sickle cell disease and COVID-19 in Brazil, 2020

SUMMARY OBJECTIVE: The ability to cause death is the definitive measure of an infectious disease severity, particularly one caused by a novel pathogen like severe acute respiratory syndrome-CoV-2 (COVID-19). This study describes sickle cell disease-related mortality issues during the COVID-19 pandemic in Brazil. METHODS: The provisional 2020 mortality data originated from the public databases of the Mortality Information System and were investigated using the multiple-cause-of-death methodology. RESULTS: In 2020, 688 sickle cell disease-related deaths occurred, of which 422 (61.3%) had an underlying cause of death and 266 (38.7%) had an associated cause of death. Furthermore, 98 COVID-19-related deaths occurred, of which 78 were underlying cause of death among sickle cell disease associated (non-underlying) cause of death. Sickle cell disease-related deaths occurred mostly among young adults aged 25-49 years. COVID-19 deaths occurred at ages older than among sickle cell disease-related deaths. Majority of deaths happened in the southeast (42.3%) and northeast regions (34.0%), while COVID-19 deaths prevailed in the northeast region (42.9%). Regarding overall deaths, the leading underlying cause of death was sickle cell disease itself, followed by infectious and parasitic diseases (14.8%), owing to COVID-19 deaths, and diseases of the circulatory system (8.9%). Next, in males, diseases of the digestive system (4.8%) occurred, while, in females, maternal deaths succeeded, included in the chapter on pregnancy, childbirth, and the puerperium, accounting for 5.9% of female deaths. The leading overall associated (non-underlying) cause of deaths were septicemias (29.4%), followed by respiratory failure (20.9%), pneumonias (18.3%), and renal failure (14.7%). CONCLUSION: In Brazil, COVID-19 deaths produced trend changes in sickle cell disease-related causes of death, age at death, and regional distribution of deaths in 2020.

Mortality trends and sociodemographic factors associated with early death in sickle cell disease patients in the state of São Paulo / Tendência da mortalidade e fatores sociodemográficos associados à morte precoce em pacientes com doença falciforme no estado de São Paulo

ABSTRACT Objective: To estimate trends in mortality rate and average age of death, and identify sociodemographic factors associated with early death in patients with sickle cell disease (SCD). Methods: An ecological and cross-sectional study was conducted using data from the Mortality Information System. All deaths of patients residing in the state of São Paulo from 1996 to 2015 with at least one International Disease Code for SCD in any field of the death certificate were included. Simple linear regression was used to estimate trends. The Log-rank test and multiple Cox regression were used to identify factors associated with early death. Results: The age-standardized mortality rate per million inhabitants increased by 0.080 per year (R2=0.761; p<0.001). When the events were stratified by age at death, the increase was 0.108 per year for those occurring at age 20 years or older, (R2=0.789; p<0.001) and 0.023 per year for those occurring before age 20 years old (R2=0.188; p=0.056). The average age at death increased by 0.617 years (7.4 months) per year (R2=0.835; p<0.001). Sociodemographic factors associated with early death identified were male gender (hazard ratio — HR=1.30), white race (HR=1.16), death occurring in the hospital (HR=1.29), and living in the Greater São Paulo (HR=1.13). Conclusions: The mortality rate and the average age of death in patients with SCD have increased over the last two decades. Sociodemographic factors such as gender, race, place of occurrence, and residence were found to be associated with early death.

RESUMO Objetivo: Estimar as tendências da taxa de mortalidade e da idade média de morte e identificar os fatores sociodemográficos associados ao óbito precoce em pacientes com doença falciforme (DF). Métodos: Estudo ecológico e transversal realizado com dados do Sistema de Informações sobre Mortalidade. Foram incluídos todos os eventos de óbitos de pacientes residentes no estado de São Paulo de 1996 a 2015, que continham pelo menos um Código Internacional de Doenças para DF, em qualquer campo do atestado de óbito. As tendências foram estimadas por meio da regressão linear simples. Para a identificação dos fatores associados ao óbito precoce, foram realizadas análises de sobrevida, por meio da regressão de Cox simples e múltipla. Resultados: A taxa de mortalidade, padronizada pela idade, por milhão de habitantes, aumentou 0,080 ao ano (R²=0,761; p<0,001). Quando os eventos foram estratificados por idade do óbito, naqueles que ocorreram com 20 anos ou mais, o aumento foi de 0,108 ao ano (R²=0,789; p<0,001) e, nos que ocorreram antes de 20 anos, foi de 0,023 ao ano (R²=0,188; p=0,056). A idade média ao morrer aumentou 0,617 ano por ano (R²=0,835; p<0,001). Os fatores associados ao óbito precoce identificados no modelo múltiplo foram: sexo masculino (hazard ratio — HR=1,30), raça branca (HR=1,16), morte dentro do hospital (HR=1,29) e moradia na Grande São Paulo (HR=1,13). Conclusões: Houve aumento da taxa de mortalidade e da idade média de óbito com DF nas duas últimas décadas estudadas. Os fatores sociodemográficos sexo, raça, local de ocorrência e município de residência estiveram associados com a faixa etária do óbito.

Thrombotic microangiopathy in patients with sickle cell disease / Microangiopatia trombótica em pacientes com doença falciforme

ABSTRACT Objective: To describe two cases of patients who had thrombotic microangiopathy (TMA) associated with sickle cell disease (SCD). Case description: Both patients started with a painful crisis and had acute chest syndrome during hospitalization. They showed significant worsening of hemolytic anemia, with very high levels of lactate dehydrogenase, thrombocytopenia, lowered level of consciousness, organ damage and the presence of schistocytes in peripheral blood. Due to the possibility of TMA, despite the very rare association with SCD, they were treated with fresh frozen plasma replacement and plasmapheresis, with good response. Comments: TMA is a serious, life-threatening disease, characterized by microangiopathic hemolytic anemia, thrombocytopenia, and organ damage. The association of SCD and TMA is difficult to diagnose, since they can share a similar clinical presentation. Recognizing this association and promptly instituting treatment may impact the survival of these patients.

RESUMO Objetivo: Descrever dois casos de pacientes que apresentaram microangiopatia trombótica (MAT) associada à doença falciforme (DF). Descrição do caso: Ambos os pacientes iniciaram com crise dolorosa e apresentaram síndrome torácica aguda durante a internação. Eles apresentaram piora significativa da anemia hemolítica, com níveis muito elevados de lactato desidrogenase, trombocitopenia, rebaixamento do nível de consciência, lesão de órgãos e presença de esquistócitos no sangue periférico. Diante da possibilidade de MAT, apesar da associação muito rara com DF, eles foram tratados com reposição de plasma fresco congelado e plasmaférese, com boa resposta. Comentários: A MAT é uma doença grave e com risco de vida, caracterizada por anemia hemolítica microangiopática, trombocitopenia e danos a órgãos. A associação de DF e MAT é de difícil diagnóstico, pois as duas podem ter apresentação clínica semelhante, portanto reconhecer essa associação e instituir o tratamento prontamente pode ter grande impacto na sobrevida desses pacientes.

Àgô Sankofa: um olhar sobre a trajetória da doença falciforme no Brasil nos últimos 20 anos / Àgô Sankofa: an overview of the progression of sickle cell disease in Brazil in the past two decades

Resumo A doença falciforme (DF) é um caso emblemático de negligência histórica em saúde no Brasil e reflete como o racismo institucional produz iniquidades em saúde. Este artigo fez um percurso histórico até os dias atuais e mostra atraso na implementação de políticas de saúde voltadas para as pessoas com DF, tantas vezes encoberto em (in)ações e omissões do poder público. O descompromisso para a efetivação das recomendações do Ministério da Saúde, a exemplo da triagem neonatal, e a dificuldade de incorporar as tecnologias para a assistência à saúde resultam desse modus nada operandi. Os avanços e retrocessos nas ações programáticas, bem como a pressão constante sobre os diversos entes governamentais, caracterizaram a saga dos últimos 20 anos. O texto disserta sobre as políticas voltadas para as pessoas com DF, apropriando-se da simbologia Sankofa, já que só é possível construir o presente pelo aprendizado dos erros do passado. Assim, reconhecemos essa trajetória e esse momento histórico em que há possibilidade concreta de avançar e concretizar o tão almejado cuidado integral para pessoas com DF. Concluiu-se que há um convite para um novo olhar, em que esperançar seja o disparador das movimentações necessárias para a garantia do direito para as pessoas com DF.

Abstract Sickle cell disease (SCD) is an emblematic case of historical health neglect in Brazil and reflects how institutional racism produces health inequalities. This article engaged in a historical journey of this disease, showing the delayed implementation of health policies for people with sickle cell disease, often concealed in Public Power's (in)actions and omissions. The lack of commitment to implement the recommendations of the Brazilian Ministry of Health, such as neonatal screening, and the difficulty in incorporating technologies for health care result from this modus operandi. The advances and setbacks in programmatic actions and the constant pressure on several governmental entities have characterized the reported saga in the last twenty years. The present text discusses the policies for people with SCD, appropriating the Sankofa symbol, meaning that building the present is only possible by remembering past mistakes. Thus, we recognize this trajectory and this historical moment in which there is a concrete possibility of moving forward and achieving the longed-for comprehensive care for people with SCD. There is an invitation to glance at a new perspective, one in which hope is the trigger for the movements needed to guarantee the rights of people with SCD.

Experiências e estratégias de pessoas com doença falciforme no Distrito Federal: a ruptura biográfica / Experiences and strategies of people with sickle cell disease in the Federal District: the biographical rupture

Resumo Trata-se de um estudo sobre a doença falciforme, enfermidade crônica que afeta muitas pessoas no Brasil. O objetivo foi compreender como as pessoas lidam com as adversidades oriundas do diagnóstico e a ruptura biográfica. A descrição das experiências e estratégias empregadas pelas pessoas compuseram um quadro que expressa os habitus dos entrevistados, construídos em relação dialética com a vulnerabilidade determinada pela doença. A abordagem foi qualitativa e empregou entrevistas focadas como propostas por Merton, a técnica bola de neve aplicada em grupos relacionados à doença falciforme em redes sociais. Sete participantes foram selecionados por serem informantes privilegiados, portadores da doença, maiores de 18 anos, moradores no Distrito Federal e usuários não exclusivos do Sistema Único de Saúde. O material das entrevistas foi categorizado a partir dos núcleos focais empregados. Os resultados apontaram as categorias: ruptura biográfica, experiência e estratégias de enfrentamento, atenção à saúde. Concluímos que é necessária uma sensibilização dos profissionais e da população sobre as dificuldades da condição de vida das pessoas com doença falciforme e a consolidação das políticas públicas e das redes de atendimento para acolher essa população.

Abstract This is a study on sickle cell disease, a chronic illness that affects many Brazilians, that aims to understand and analyze how people address the adversities arising from the diagnosis and the biographical rupture. The description of people's experiences and strategies conjures a picture that expresses the respondents' habitus, built in a dialectical relationship with the vulnerability determined by the disease. We adopted a qualitative approach and focused interviews as proposed by Merton, combined with the snowball technique, applied to groups related to sickle cell disease on social networks. Seven participants were selected because they were privileged informants with the disease, were over eighteen, lived in the Federal District, and were non-exclusive users of the Unified Health System. The interview material was categorized from the focal groups employed. The results indicated the following categories: biographical rupture, experience and coping strategies, and healthcare. It is necessary to sensitize professionals and the population about the challenging living conditions of people with sickle cell disease and the consolidation of public policies and care networks to accommodate this population.

Dental caries in the permanent dentition and health-related quality of life among children and adolescents with sickle cell disease / Cáries dentárias na dentição permanente e qualidade de vida relacionada à saúde entre crianças e adolescentes com doença falciforme

Abstract The aim was to associate living, health and oral health conditions with the quality of life (QL) of children and adolescents (CA) with sickle cell disease (SCD). Of the 120 eligible users of a public hematological service, 106 CA with SCD from 6 to 18 years of age, and their caregivers, answered semi-structured questions about socio-demographic, health and oral health conditions. For QL, we used the validated instrument PedsQLSCD™. The oral clinical examination occurred according to the guidelines of WHO and SB Brazil 2010. The majority of CA were non-white people (88%), mean age of 10.4 (±2.9) years, family income of up to two monthly minimum wages, for 03 to 05 members, with diagnosis of sickle cell anemia by neonatal screening, hospitalizations were due allergic crises, polypharmacy and dental caries (51%) were present. "About the Impact of My Pain" was the best-fit model for the QLSCD (adjusted R²=56%; AIC=28.67; p=0.04). Dental caries in permanent dentition worsened the QLSCD (OR=0.53; IC95%=0.35-0.78; p<0.05) and was associated with the type of school, car ownership, number of family members, of complications and of the medications. To overcome this scenario, programmatic actions are required, and implementation of public policies specifically directed towards these groups.

Resumo Objetivou-se associar condições de vida, de saúde e de saúde bucal à qualidade de vida (QLV) de crianças e adolescentes (CA) com Doença Falciforme (DF). Dos 120 usuários elegíveis de um serviço público hematológico, 106 CA entre 6 e 18 anos de idade, e seus cuidadores, responderam questões semiestruturadas sobre condições sociodemográficas, de saúde e saúde bucal. Para a QLV, o instrumento validado PedsQL DF® foi aplicado. Na sequência, realizou-se o exame clínico bucal nas CA segundo diretrizes da OMS e do SB Brasil 2010. A maioria das CA era negra (88%), idade média de 10,4 (±2.9) anos, renda familiar de até dois salários mínimos, para 03 a 05 membros, diagnosticadas na triagem neonatal com anemia falciforme, internadas por crises álgicas, em uso de polifarmácia e com cárie dental (51%). O domínio "Sobre o Impacto da Minha Dor" foi preditivo da QLVDF (R² ajustado =56%; AIC=28.67; p=0,04). Nele, a cárie dental na dentição permanente piorou a QLVDF das CA (OR=0.53; IC95%=0.35-0.78; p<0,05), associando-se ao tipo de escola, posse de carro e do número de membros na família, de complicações da DF e de medicamentos. Os achados ratificam a dor como marca da DF e mostram a importância da saúde bucal na QLDF das CA. A implementação de políticas públicas específicas pode superar esse cenário.

Transfusion of packed red blood cells in adults with sickle cell anemia treated at an emergency hospital

SUMMARY OBJECTIVE: The aim of this study was to analyze the prescription of packed red blood cells performed by emergency physicians for adults with sickle cell anemia. METHODS: Transfusions performed in adults with sickle cell anemia treated at an emergency service in São Bernardo do Campo, São Paulo Brazil, between January 2018 and January 2022 were evaluated. For data comparison, the chi-square2 test was used. The significance level adopted was 5%. RESULTS: A total of 114 transfusions were performed. The mean age was 41.8±16.4 years, and pretransfusion hemoglobin was 6.1±1.23 g/dL. Regarding the indication, the adequacy of transfusions performed in symptomatic individuals was significantly higher compared to asymptomatic individuals (100% vs. 3.9%, p<0.001). Symptomatic individuals received excessive volumes of packed red blood cells less frequently than asymptomatic individuals (17.5% vs. 56.9%, p<0.001). The filtered subtype, indicated for sickle cell anemia, was prescribed in only a quarter of the patients. However, non-indicated subtypes were frequently prescribed. CONCLUSION: This study found low adequacy in the indication and calculation of the transfusion volume of packed red blood cells in asymptomatic individuals. Few patients received filtered red blood cells, resulting in increased risks of transfusion reactions. On the contrary, non-indicated subtypes were prescribed in a quarter of transfusions, which resulted in higher costs and delay in receiving packed red blood cells.

CETP gene polymorphisms and haplotypes are explanatory variables for HDL cholesterol level in sickle cell disease

Variations in lipid profile have been observed in sickle cell disease (SCD) and understanding their relationship with disease severity is crucial. This study aimed to investigate the association of polymorphisms of the CETP gene and laboratory markers of disease severity with lipid profile in a pediatric population with SCD. Biochemical and anthropometric analyses and CETP and alpha-thalassemia genotyping were performed. The study included 133 children and adolescents with sickle cell anemia (SCA) or hemoglobin SC disease (SCC), in steady-state. The SCA and no hydroxyurea (no HU) groups had higher values of ApoB, total cholesterol, low-density lipoprotein cholesterol (LDL-C), and non-high-density lipoprotein cholesterol (non-HDL-C) compared to the SCC and HU groups. However, there were no significant differences in ApoA1 and HDL-C levels between the groups based on genotype. Furthermore, the groups with altered levels of ApoA1, HDL-C, and the triglyceride/HDL ratio exhibited lower hemoglobin (Hb) levels and higher white blood cell counts. Hb level was associated to HDL-C levels. Analysis of CETP gene variants showed that the minor alleles of rs3764261 (C>A), rs247616 (C>T), and rs183130 (C>T), as well as the TTA haplotype, are explanatory variables for HDL-C levels. These findings suggested that dyslipidemia in SCD, specifically related to HDL-C levels, may be influenced by individual genetic background. Additionally, further investigation is needed to determine if clinical manifestations are impacted by CETP gene variants.

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.

Translation, cross-cultural adaptation and validation of the sickle cell self-efficacy scale (SCSES)

ABSTRACT Objective: To translate, cross-culturally adapt and validate the Sickle Cell Self-Efficacy Scale for application in the Brazilian cultural context. Methods: This is a methodological study performed in 6 steps: 1- Forward translation; 2- Translation synthesis; 3- Back-translation; 4- Assessment by expert committee, with computation of the Content Validity Index (CVI); 5- Cultural adequacy (pre-test); 6- Reproducibility. A pre-test was performed with the participation of 10 adolescents/young adults with sickle cell disease through a telephone call and their responses were recorded on a form in a web platform. The instrument validation step was carried out with 55 adolescents/young adults with sickle cell disease, 43 of them having participated in the retest. The analysis of internal consistency and reproducibility was calculated using the Cronbach's alpha coefficient and the Intraclass Correlation Coefficient (ICC), in the R statistical programming environment. Results: The translated instrument had good acceptance among the experts, reaching an average CVI of 1.0. In assessing reliability, the scale showed acceptable internal consistency, with a Cronbach's alpha of 0.84. In the agreement analysis, the ICC was 0.923 (95% CI: 0.857 to 0.958), which indicates good temporal reproducibility. Conclusions: Following the process of translation, cross-cultural adaptation and validation, we obtained the Brazilian version of the Sickle Cell Self-Efficacy Scale, considered valid and reliable to be applied to adolescents and young adults with sickle cell disease in Brazil.

A experiência de adoecimento falciforme pelas lentes qualitativas / The sickle cell illness experience under the qualitative lens

Resumo O objetivo deste artigo é analisar o conteúdo da produção qualitativa produzida (2000-2023) sobre a doença falciforme, a fim de fundamentar a categoria analítica - experiência de adoecimento falciforme. Metodologicamente, realizamos um estudo bibliográfico de abordagem qualitativa, com uma análise de conteúdo temática, ancorada no diálogo entre o acervo revisado e os referenciais teórico-conceituais adotados. A análise de conteúdo temática nos levou a oito dimensões interpretativas: cotidianos e itinerários, cuidado, decisões reprodutivas, estigma e suas expressões, gênero, participação, raça e religiosidade. A experiência falciforme emerge relacionada a processos de exclusão, desvalorização, desconhecimento e invisibilização, aliadas fortemente aos componentes de raça em nuances que a distanciam da experiência de adoecimento genérica.

Abstract This article aims to analyze the content of the qualitative production (2000-2023) on sickle cell disease to support the analytical category - the sickle cell disease experience. Methodologically, we conducted a qualitative, bibliographical study with a thematic content analysis anchored in the dialogue between the revised collection and the adopted theoretical-conceptual references. The thematic content analysis triggered eight interpretative dimensions: daily life and itineraries, care, reproductive decisions, stigma and its expressions, gender, participation, ethnicity, and religiosity. The sickle cell experience emerges and is related to exclusion, devaluation, ignorance, and invisibility, strongly allied to race components in nuances that distance it from the generic illness experience.