Children and adolescents with sickle cell disease: characteristics and use of medicinal plants / Crianças e adolescentes com doença falciforme: características e uso de plantas medicinais

ABSTRACT Objective: The aim of this study was to describe the epidemiological characteristics of pediatric patients with sickle cell disease (SCD) and evaluate the use of medicinal plants in these patients concomitantly with their drug treatment. Methods: This is a review of the medical records of pediatric patients at a public institution with tertiary care. The selection criterion was to be a child or adolescent with SCD undergoing pediatric follow-up at this outpatient clinic. In the medical records of the patients selected, records of the use of plants for medicinal purposes were sought. Results: In total, 154 records (100% of total active patients followed in this clinic) were reviewed: 99 children and 55 adolescents. The predominant genotype was SS (58.4%), followed by SC (29.2%). The use of at least one medication for SCD was reported in 95.5% of the medical records. The use of medicinal plants was reported by 70.1% of patients, with 276 citations in the medical records referring to 64 different types of plants. Six plants were used for the treatment of SCD, the main one being Lemonvine/Ora-pro-nóbis (Pereskia aculeata). The use of medicinal plants was reported for flu-like symptoms and/or COVID-19 (both for prevention and treatment) by 60.5% of the citations, with 35 different plants reported for this use, exclusively or not. This use was followed by pain symptoms (14.2% of citations). Conclusions: The majority of patients in this study use both conventional and traditional/complementary/alternative medicine, highlighting the need for more studies in the area, with a special focus on patient safety.

RESUMO Objetivo: Descrever as características epidemiológicas de pacientes pediátricos com doença falciforme (DF) e avaliar o uso de plantas medicinais concomitantemente ao tratamento medicamentoso. Métodos: Realizou-se revisão de prontuários de pacientes pediátricos de uma instituição pública com nível de atendimento terciário; o critério de seleção foi ser criança ou adolescente com DF em acompanhamento pediátrico neste ambulatório. Nos prontuários dos pacientes selecionados foi procurado o registro do uso de plantas com finalidades medicinais. Resultados: Foram revisados 154 prontuários (100% dos pacientes ativos desse ambulatório): 99 crianças e 55 adolescentes. O genótipo predominante foi SS (58,4%), seguido do SC (29,2%). O uso de ao menos uma medicação para a DF foi relatada em 95,5% dos prontuários. Em 70,1% dos prontuários havia o relato do uso de plantas medicinais, em 276 citações, sendo 64 plantas citadas ao todo; destas, seis espécies foram citadas para o tratamento da doença de base (DF), sendo "ora-pro-nobis" (Pereskia aculeata) a principal. Das 276 citações de plantas medicinais nos prontuários, 60,5% incluíram o uso de plantas medicinais em sintomas gripais e/ou COVID-19 (tanto prevenção quanto tratamento), sendo relatadas 35 para este uso, exclusivamente ou não. Essa foi a principal finalidade de uso encontrada nos prontuários dos pacientes, seguida do uso para sintomas de dor (14,2% das citações). Conclusões: Notou-se que a maioria dos pacientes avaliados faz uso da medicina convencional, aliada à tradicional/ complementar/ alternativa, o que leva à necessidade de mais estudos nessas áreas, especialmente na pediatria, visando principalmente à segurança do paciente.

New horizons in sickle cell crisis treatment

Even if life expectancy has increased, sickle cell disease (SCD) still presents difficulties, especially because of the painful episodes that occur frequently and without warning, known as Vaso-occlusive crises (VOCs). These crises are brought on by different cells adhering to one another and obstructing tiny blood veins, which can cause excruciating agony and eventually harm organs and tissues. While the majority of current treatments concentrate on symptom management and pain relief with the use of medications, hydration, and other general approaches, new discoveries about the fundamental mechanisms of VOCs provide intriguing new therapeutic options. With the goal of precisely addressing the pathways causing inflammation and cell adhesion, these cutting-edge treatments may lessen the frequency of VOCs and shield vital organs from harm. Though these treatments provide hope for improved SCD management, careful assessment and analysis of their efficacy and accessibility are necessary to guarantee their general benefit.

Optimising Functional Recovery in a Paediatric Stroke patient secondary to Sickle Cell Disease: A Case Report

Out of many causes of Paediatric Stroke, Sickle Cell Disease is one of the crucial conditions with the risk of Stroke highest during the first decade that is between the ages of 2 & 5 years. Reported here, however, is a case of a 10-year-old male child with sudden onset left side hemiplegia with facial muscle weakness, who was a known case of Sickle Cell disease since 6 months of age. With the inability to use the upper extremities & walk independently, the patient was functionally dependent with a Fugl Meyer score of 55/126 & Berg balance scale score of 18/56. After 4 months of Physiotherapy Treatment patient was able to use the Upper extremities for functional activities and was able to walk independently with a Berg balance scale score of 46/56.With very few cases of pediatric Stroke receiving Physiotherapy care being reported in the literature, this case report establishes the role of Physiotherapy in preventing long-term neuro developmental disability.

SICKLE CELL DISEASE IN JHABUA AND KHARGONE DISTRICT: UNVEILING PREVALENCE AND SEVERITY

Objective: To assess the prevalence among Sickle cell disease (SCD) affected individuals emphasizing the neglected health challenges in various tribes.Methods: Cross-sectional, observational study was conducted during the district residency program for 9 mo. The data has been collected from the record room of patients diagnosed with Sickle cell Anemia. Statistical analysis was done using Microsoft Excel.Results: A total of 295 patients’ data revealed demographic skew toward Jhabua (50%), with Sickle cell anemia diagnosed at the mean age of 23±3.9. Most patients (72.3%) were Hindu, with Bhil and Bhilaya tribes having higher frequencies. Symptoms varied; 94% had Sickle cell trait, 16.3% had sickle cell disease, and 60% experienced painful crises. Treatment included prophylactic care for all, 37.57% required blood transfusions and 29.7% were on hydroxyurea.Conclusion: The study underscores the significant SCD burden and the need for heightened awareness and targeted interventions in socio-economically disadvantaged tribal regions to mitigate the impact of SCD.

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.

Knowledge and utilization of premarital screening for sickle cell disease among residents of semi-urban community, Bauchi State, Nigeria

Background: Sickle cell disease is a major genetic disease that manifests early in life and may lead to significant morbidities. It is an inherited disorder resulting from an abnormality in the structure of a protein in the red blood cell called haemoglobin characterized by the presence of crescent-shaped erythrocytes. Sickle cell disease is one of the most prevalent genetic disorders among the African populations. This study assessed the knowledge and utilization of premarital screening for sickle cell disease among residents of semi-urban community of Bauchi State, Nigeria. Methods: A descriptive cross-sectional design was used for the study. A multistage sampling technique was used in selecting 308 participants and a semi structured questionnaire was used in collecting data for the study. Data was analyzed using SPSS version 26 at 5% significance level and 95% confidence interval and presented in tables of frequencies and percentages. Results: The result revealed that 73.1% of the participants had good knowledge of premarital screening for sickle cell disease and their commonest sources of information were family and friends (45.6%). More than half of the respondents (66.8%) had good utilization. Conclusions: Majority of the respondents had good knowledge and utilization of premarital screening for sickle cell disease. We recommend that there should be more emphasis on health education and awareness programmes at community level on premarital screening for sickle cell disease. Also, genetic screening services should be made available in all primary health care centers.

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.

Profil lipoprotéique et risque athérogène chez les drépanocytaires majeurs au CHU de Cocody / Lipid Profile and Atherogenic Risk of Major Sickle Cell Disease Patients in Abidjan

Introduction.Les formes majeures dedrépanocytose sont une source de perturbation des paramètres lipidiques. Cette perturbation est impliquée dans l'apparition de nombreuses maladies cardiovasculaires telles que les accidents vasculaires cérébraux. Cette étude avait pour but d'établir la relation entre les formes majeures de la drépanocytaire, le risque athérogène et l'état inflammatoire des sujets. Méthodologie. Il s'agit d'une étude transversale à visé analytique qui s'est déroulée dans les services d'hématologie du CHU de Cocody et dans le laboratoire de biochimie de l'UFR des Sciences Médicales d'Abidjan portant sur les sujets drépanocytaires majeurs et de sujets apparemment sains admis au CHU de Cocody pendant la période de l'étude. Résultats.Nous avons recrutéun total de 57 sujets drépanocytaires (SS, SC, Sß0,Sß+) et 44 sujets apparemment sains sur la base d'une électrophorèse de l'hémoglobine.L'âge moyen des sujets drépanocytaires était de 17,77 ans avec des extrêmes de 2 et 67 ans. On notait une prédominance féminine avec un sex-ratio de 1,48.Les cholestérolémies totales moyennes des drépanocytaires SS et SC étaient plus faibles comparativement à celles des drépanocytaires Sß0, Sß+et de la population témoin avec une différence statistiquement significative (p= 0,0031).Les triglycéridémies moyennes des drépanocytaires (SS et SC) étaient plus basses en comparaison à celles des témoins et des drépanocytaires Sß0et Sß+. Les valeurs moyennes de l'indice d'athérogénicité des sujets drépanocytaires étaient élevées que chez les témoins avec une différence statistiquement significative(p = 0,001). les drépanocytaires avaient des concentrations de CRP significativement plus élevée avec p = 0, 0015.Conclusion.Chez les sujets drépanocytaires, les valeurs augmentées de l'indice d'athérogénicité, des triglycérides, de la CRP et la baisse de la concentration du cholestérol HDL expliqueraient un risque athérogène plus élevé. Il est importantd'introduire le bilan lipidique dans le suivi du patient drépanocytaire

Introduction.The major forms of sickle cell disease are a source of disruption to lipid parameters. This disruption is implicated in the development of many cardiovascular diseases such as strokes. The aim of this study was to establish the relationship between the major forms of sickle cell disease, atherogenic risk, and the inflammatory state of subjects. Methodology.This was a cross-sectional analytical study conducted in the hematology departments of the Cocody University Hospital and the biochemistry laboratory of the Faculty of Medical Sciences in Abidjan, focusing on major sickle cell subjects and apparently healthy subjects admitted to the Cocody University Hospital during the study period. Results.A total of 57 sickle cell subjects (SS, SC, Sß0, Sß+) and 44 apparently healthy subjects were recruited based on hemoglobin electrophoresis. The average age of sickle cell subjects was 17.77 years with a range of 2 to 67 years. There was a female predominance with a sex ratio of 1.48. The mean total cholesterol levels of SS and SC sickle cell subjects were lower compared to those of Sß0, Sß+ sickle cell subjects and the control population with a statistically significant difference (p=0.0031). The mean triglyceride levels of sickle cell subjects (SS and SC) were lower compared to controls and Sß0 and Sß+ sickle cell subjects. The mean atherogenicity index valuesof sickle cell subjects were higher than in controls with a statistically significant difference (p=0.001). Sickle cell subjects had significantly higher CRP concentrations with p=0.0015. Conclusion.In sickle cell subjects, increased values of the atherogenicity index, triglycerides, CRP, and decreased HDL cholesterol levels would explain a higher atherogenic risk. It is important to include lipid profile assessment in the treatmentent of sickle cell disease

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.

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

Contraceptive preferences among women with sickle cell disease during a 12-month follow-up: a prospective study / Preferências contraceptivas entre mulheres com doença falciforme durante um acompanhamento de 12 meses: um estudo longitudinal

Abstract Objectives: to analyze the choice and continuation rate of contraceptive methods in women with sickle cell disease (SCD). Methods: an exploratory prospective study was conducted at a hospital enrolling 44 women with SCD aged 15-40 years old. After contraceptive counseling, the women selected one of the available contraceptive methods and separated into two groups, and were followed up at one, three, six, and 12 months. To analyze the continuation rate of contraceptive use, the two groups were: group (G1) using progestin-only contraceptives, through any route of administration and group (G2) using other contraceptive methods (combined hormonal and non-hormonal contraceptives). The continuation rate was analyzed using Kaplan-Meier survival analysis, considering a p<0.05. Results: after contraceptive counseling, most women opted for any progestin-only methods: injectable contraceptives (n=18; 40.9%), oral contraceptives (n=7; 15.9%), or intrauterine devices (n=3; 6.8%). The continuation rate decreased in both groups during the 12-months follow-up period. In the G1, the continuation rate was 60.7% (CI95%=40.4-76.0), while that in the G2 was 68.7% (CI95%= 40.5-85.6) with no significant difference between the groups (p=0.641). Conclusions: the overall continuation rates in both groups were satisfactory. No significant difference in the continuation rate of contraceptive methods was observed between the groups, although most women preferred progestin-only methods.

Resumo Objetivos: analisar a escolha e a taxa de continuação do uso de métodos contraceptivos em mulheres com doença falciforme (DF). Métodos: foi realizado um estudo prospectivo exploratório em um hospital, no qual foram incluídas 44 mulheres com DF com idade entre 15 e 40 anos. Após aconselhamento contraceptivo, as mulheres selecionaram um dos métodos contraceptivos disponíveis e foram separadas em dois grupos, sendo acompanhadas por um, três, seis e 12 meses. Para analisar a taxa de continuação do uso de métodos contraceptivos, os dois grupos foram: grupo (G1) que utilizou apenas contraceptivos de progestágeno, por qualquer via de administração e grupo (G2) que utilizou outros métodos contraceptivos (contraceptivos hormonais combinados e não hormonais). A taxa de continuação foi analisada pela análise de sobrevida de Kaplan-Meier, considerando um p<0,05. Resultados: após aconselhamento contraceptivo, a maioria das mulheres optou por algum dos métodos contendo apenas progestágeno: contraceptivos injetáveis (n=18; 40,9%), contraceptivos orais (n=7; 15,9%) ou dispositivos intrauterinos (n=3; 6,8%). A taxa de continuação diminuiu em ambos os grupos durante o período de acompanhamento de 12 meses. No G1, a taxa de continuação foi de 60,7% (IC95%= 40,4-76,0), enquanto no G2 foi de 68,7% (IC95%= 40,5-85,6) sem diferença significativa entre os grupos (p=0,641). Conclusões: as taxas gerais de continuação em ambos os grupos foram satisfatórias. Não foi observada diferença significativa na taxa de continuação dos métodos contraceptivos entre os grupos, embora a maioria das mulheres tenha preferido métodos somente com progestágeno.

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.

Masculinidad hegemónica: factor negativo en la prevención de anemia falciforme en Matanzas

Introducción: En Cuba se le concede gran importancia a la atención de la madre y el niño, por lo cual se desarrollan programas de prevención de enfermedades como la anemia falciforme, condición hereditaria frecuente en el mundo. El asesoramiento genético de esta enfermedad pone de manifiesto rasgos de masculinidad hegemónica heredados de una cultura patriarcal, que conspiran contra el diagnóstico prenatal de la enfermedad. Objetivo: Describir los patrones de masculinidad hegemónica que inciden negativamente en la prevención de anemia falciforme en la provincia de Matanzas. Métodos: Se realizó una investigación descriptiva retrospectiva, a través de la revisión de las historias clínicas de anemia falciforme del Departamento de Genética Médica, de Matanzas, de 1981 a 2021. Se informatizó este registro genético en Excel y se procedió a examinar la información. Se analizó el número de esposos de gestantes portadoras negados a electroforesis de hemoglobina, así como el número de parejas negadas al diagnóstico prenatal y las causas en ambos casos. Se hizo un análisis porcentual presentado en tablas. Resultados: Fueron objeto de estudio 7140 esposos de gestantes portadoras de anemia falciforme; los negados a electroforesis de hemoglobina constituyeron 1088, por no aceptación de la paternidad ni de la morbimortalidad por esta enfermedad. De 428 parejas de riesgo, 252 se hicieron diagnóstico prenatal; 78,9 % de las 176 no estudiadas correspondió a negación masculina, donde imperaron: temor al aborto, inconformidad con la morbimortalidad, y rasgos de paternidad irresponsable. Conclusiones: Los patrones de masculinidad hegemónica se manifiestan de forma negativa en el asesoramiento genético de la anemia falciforme. Desmontarlos progresivamente ayuda a mejorar la prevención de esta enfermedad a través del diagnóstico prenatal.

Introduction: In Cuba, great importance is given to the care of mother and child, which is why programs are develop to prevent diseases such as sickle cell anemia, hereditary condition very frequent in the world. Genetic counseling of this disease reveals hegemonic masculinity traits inherited from a patriarchal culture, which conspire against prenatal diagnosis of the disease. Objective: To describe the patterns of hegemonic masculinity which negatively affect the prevention of sickle cell anemia in the province of Matanzas. Methods: A retrospective descriptive research was carried out, through the review of sickle cell anemia clinical records of the Medical Genetics Department of Matanzas, from 1981 to 2021.This genetic record was computerized in Excel and the information was examined. The number of husbands of carrying pregnant women who refused hemoglobin electrophoresis was analyzed, as well as the number of couples denied to prenatal diagnosis and the causes in both cases. A percentaje analysis was performed, presented in tables. Results: 7140 husbands of pregnant women carrying sickle cell anemia were studied; those who refused hemoglobin electrophoresis constituted 1088 due to non-acceptance of paternity and morbimortality for this disease. Of 428 risk couples, 252 were prenatally diagnosed; 78.9% of those 176 not studied corresponded to male denial, where fear of abortion, dissatisfaction with morbimortality, and irresponsible paternity traits prevailed. Conclusions: Patterns of hegemonic masculinity are negatively manifested in genetic counseling for sickle cell disease. Dismantling them progressively helps to improve the prevention of this disease through prenatal diagnosis.

Prevalence of arboviruses in sickle cell disease patients from two different regions of Brazil, the North and Northeast

ABSTRACT Sickle Cell Disease (SCD) is a hereditary disease characterized by extravascular and intravascular hemolysis and clinical variability, from mild pain to potentially life-threatening. Arboviruses include mainly Zika (ZIKV), Chikungunya (CHKV), and Dengue (DENV) virus, and are considered a public and social health problem. The present cross-sectional observational study aimed to investigate the prevalence of arbovirus infection in SCD patients from two Brazilian cities, Salvador and Manaus located in Bahia and Amazonas states respectively. A total of409 individuals with SCD were included in the study, and 307 (75.06 %) patients tested positive for DENV-IgG, 161 (39.36 %) for ZIKV-IgG, and 60 (14.67 %) for CHIKV-IgG. Only one individual was positive for DENV-NS1 and another for DENV-IgM, both from Salvador. No individuals had positive serology for ZIKV-IgM or CHIKV-IgM. Arbovirus positivity by IgG testing revealed that the SCD group presented high frequencies in both cities. Interestingly, these differences were only statistically significant for ZIKV-IgG (p = 0.023) and CHIKV-IgG (p = 0.005) among SCD patients from Manaus. The reshaping of arbovirus from its natural habitat by humans due to disorderly urban expansion and the ease of international Mobility has been responsible for facilitating the spread of vector-borne infectious diseases in humans. We found the need for further studies on arboviruses in this population to elucidate the real association and impact, especially in acute infection. We hope that this study will contribute to improvements in the personalized clinical follow-up of SCD patients, identifying the influence of arbovirus infection in severe disease manifestations.

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.

Distribution of Hemoglobinopathies among Premarital Couples in Al Majmaah, Saudi Arabia

Hemoglobinopathies are inherited diseases of hemoglobin synthesis arising from mutations and/or deletions of one or more of the globin genes resulting in the production of abnormal hemoglobin molecules and subsequently reduced synthesis of normal alpha and beta globin chains in Hemoglobin molecules. In this study, we attempted to assess the distribution of hemoglobinopathies in Saudi Premarital couples planning to marry and applying for a marriage license in Al Majmaah region and attending the premarital screening center of King Khaled General Hospital (KKGH), Al Majmaah, Saudi Arabia. In total, 4009 cases were screened for hemoglobinopathies by using the Bio-rad Variant II cation exchange-high-performance liquid chromatography (CE-HPLC) system. The total number of abnormal hemoglobin fractions on cation exchange-HPLC (CEHPLC) was 127 cases. Sickle cell trait was the predominant genetic hemoglobin disorder accounting for 66 of the total cases. This was followed by the Beta-thalassemia trait in 50 cases, sickle-cell disease in 9 cases, HgbE disease in 1 case, and HgbD trait in 1 case. The outcome of this study indicated that the Saudi population in this area is at low risk for hemoglobin disorders. sickle cell trait and ?-thalassemia trait were the most common Hb disorders in Al Majmaah, Saudi Arabia.