Genome-wide association study of early ischaemic stroke risk in Brazilian individuals with sickle cell disease implicates ADAMTS2 and CDK18 and uncovers novel loci.

Ischaemic stroke is a common complication of sickle cell disease (SCD) and without intervention can affect 11% of children with SCD before the age of 20. Within the Trans-Omics for Precision Medicine (TOPMed), a genome-wide association study (GWAS) of ischaemic stroke was performed on 1333 individuals with SCD from Brazil (178 cases, 1155 controls). Via a novel Cox proportional-hazards analysis, we searched for variants associated with ischaemic stroke occurring at younger ages. Variants at genome-wide significance (p < 5 × 10-8 ) include two near genes previously linked to non-SCD early-onset stroke (<65 years): ADAMTS2 (rs147625068, p = 3.70 × 10-9 ) and CDK18 (rs12144136, p = 2.38 × 10-9 ). Meta-analysis, which included the independent SCD cohorts Walk-PHaSST and PUSH, exhibited consistent association for variants rs1209987 near gene TBC1D32 (p = 3.36 × 10-10 ), rs188599171 near CUX1 (p = 5.89 × 10-11 ), rs77900855 near BTG1 (p = 4.66 × 10-8 ), and rs141674494 near VPS13C (1.68 × 10-9 ). Findings from this study support a multivariant model of early ischaemic stroke risk and possibly a shared genetic architecture between SCD individuals and non-SCD individuals younger than 65 years.

Estimated glomerular filtration rate in Brazilian adults with sickle cell disease: results from the REDS-III multicenter cohort study.

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

Impact of COVID-19 on the efficacy of meeting the transfusion demand by a Brazilian blood banks network.

One of the effects of the pandemic in the hemotherapy services was the reduction in the attendance of blood donors and production of blood components. It is relevant to investigate how the capacity to meet the demand for blood components was affected, especially in blood centers located in the regions most affected by the pandemic, such as Brazil. This study aimed to describe the impact of the pandemic on the capacity to meet the demand for different types of blood components by a Brazilian blood center in 2020, compared to the historical series of 2016-2019 and to discuss the measures adopted to mitigate the effects of the pandemic. Retrospective cross-sectional study was carried out with comparative analysis of the blood components requested and attended in the period from 2016 to 2020. Data analysis was performed by Graphpad Prism 5. The spread of COVID-19 cases since March 2020 had impact on the blood components production and transfusions. The reduction in the production of blood components was observed prior to the restriction measures, in March 2020. In comparison to 2016-2019, there was a reduction in the number of transfusions performed in all months of 2020. The results suggest that the measures adopted in a Brazilian blood center to face the COVID-19 pandemic resulted in reasonable regularity in the supply of blood components. The sharing of experiences between blood banks in different regions, social and epidemiological contexts can contribute to the improvement of strategies to reduce the impact of COVID-19 in transfusion medicine.

Impact of COVID-19 in the attendance of blood donors and production on a Brazilian Blood Centres.

BACKGROUND: One of the effects of the coronavirus disease 2019 (COVID-19) pandemic is the risk of shortages in Blood Centres. OBJECTIVES: To verify the impact of the COVID-19 pandemic on the blood donor's attendance and production of blood components in Fundação Hemominas, a Brazilian public institution was formed by several Blood Centres. METHODS: A cross-sectional study was carried out from January to June 2020. Data collected were compared to a historical series from 2016 to 2019. RESULTS: The study showed a reduction in the attendance of blood donors, whole blood collections and blood component production from March 2020, when the first case of COVID-19 was notified in Minas Gerais, Brazil. The results evidenced that Hemominas Blood Centres were affected in a very distinct way by the pandemic with a general mean reduction around 17% in attendance of blood donors and in production of blood components in the period of March to June. On the other hand, the return of blood donors rate increased. CONCLUSION: The reduction in blood donation during the pandemic period was significant, despite the measures adopted. Still, the recruitment of return donors appears to be an important measure to be considered to decrease the pandemic's effect on blood stocks.

Analysis of the costs of the basic care line for sickle cell disease in Brazilian children under 5 years of age.

OBJECTIVE: To evaluate and estimate the cost of basic care in sickle cell disease (SCD) for patients under five years of age, within the scope of the Unified Health System (SUS) and to discuss the costs related to possible complications of the disease from the literature. METHODS: The main management and conduct recommendations in the SCD up to five years of age, with healthy and baseline health status, were extracted from the Basic Guidelines of the Care Line in the SCD of the Ministry of Health. Systematic data regarding costs of medicines were extracted from the Medicine Market Regulation Chamber. The SUS Table of Procedures, Medicines and Orthotics, Prosthetics and Auxiliary Means of Movement Management System was the guide for the values of complementary exams, as well as for medical consultations. The values applied to calculate the vaccination schedule were extracted from the Pan American Health Organization, adopting the perspective of the SUS-paying costs. RESULTS: The total cost obtained for basic care of SCD in children up to five years of age, including the use of antibiotic prophylaxis, immunizations and the performance of transcranial Doppler ultrasound in the prevention and early detection of cerebrovascular accidents was, on average, $1020.96. CONCLUSION: The cost-effectiveness of prophylaxis in SCD, up to five years of age, exceeds the expenses resulting from hospitalizations due to complications of the disease. The study of expenses associated with SCD could be used to establish public policies, improve prevention strategies and treat the symptoms and complications of the disease.

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

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

Incidence and risk factors of aplastic anemia in Latin American countries: the LATIN case-control study.

UNLABELLED: Background Associations between aplastic anemia and numerous drugs, pesticides and chemicals have been reported. However, at least 50% of the etiology of aplastic anemia remains unexplained. DESIGN AND METHODS: This was a case-control, multicenter, multinational study, designed to identify risk factors for agranulocytosis and aplastic anemia. The cases were patients with diagnosis of aplastic anemia confirmed through biopsy or bone marrow aspiration, selected through an active search of clinical laboratories, hematology clinics and medical records. The controls did not have either aplastic anemia or chronic diseases. A total of 224 patients with aplastic anemia were included in the study, each case was paired with four controls, according to sex, age group, and hospital where the case was first seen. Information was collected on demographic data, medical history, laboratory tests, medications, and other potential risk factors prior to diagnosis. RESULTS: The incidence of aplastic anemia was 1.6 cases per million per year. Higher rates of benzene exposure (>/=30 exposures per year) were associated with a greater risk of aplastic anemia (odds ratio, OR: 4.2; 95% confidence interval, CI: 1.82-9.82). Individuals exposed to chloramphenicol in the previous year had an adjusted OR for aplastic anemia of 8.7 (CI: 0.87-87.93) and those exposed to azithromycin had an adjusted OR of 11.02 (CI 1.14-108.02). Conclusions The incidence of aplastic anemia in Latin America countries is low. Although the research study centers had a high coverage of health services, the underreporting of cases of aplastic anemia in selected regions can be discussed. Frequent exposure to benzene-based products increases the risk for aplastic anemia. Few associations with specific drugs were found, and it is likely that some of these were due to chance alone.

Factor XIII deficiency, a rare coagulopathy: case reports / Deficiência do fator XIII, uma coagulopatia rara: relato de casos

Introduction: Hereditary Factor XIII (FXIII) deficiency is a rare autosomal recessive hemostatic disorder with an estimated incidence of one case per two million individuals and a higher prevalence in descendants of consanguineous relationships. Possible clinical manifestations include intracranial hemorrhage, umbilical cord bleeding at birth, hematoma, spontaneous abortions, and menometrorrhagia. Objective: To highlight the peculiarities of this hemostatic disorder, as well as the recommended management. Case Report: The authors describe two cases of FXIII deficiency with different hemorrhagic manifestations. Case 1 presented extensive spontaneous hematoma in the right thigh, while Case 2 had umbilical cord bleeding at birth and intracranial hemorrhage, requiring hemotherapy support. Both patients had normal results in screening laboratory tests for coagulation disorders. Coagulation factor serum levels and diagnostic assessments identified mild Factor XIII deficiency in Case 1 and severe deficiency in Case 2. The patient in Case 1 is under regular control and follow-up, while the patient in Case 2 is on a monthly prophylactic regimen with FXIII infusion. Conclusion: The diagnosis of FXIII deficiency in patients with significant bleeding should be considered if screening coagulation tests are normal. The Scientific and Standardization Committee of the International Society on Thrombosis and Haemostasis has established an algorithm for laboratory diagnosis and identification of different forms of FXIII deficiency. Quantitative determination of FXIII activity, antigenic assays, and molecular studies are necessary.

Introdução: A deficiência hereditária do Fator XIII (FXIII) é uma rara desordem autossômica recessiva da hemostasia, com uma incidência estimada de um caso a cada dois milhões de pessoas e uma maior prevalência em descendentes de relacionamentos consanguíneos. Possíveis manifestações clínicas incluem: hemorragia intracraniana, sangramento do cordão umbilical no nascimento, hematoma, abortos espontâneos e menometrorragia. Objetivo: Ressaltar as particularidades desse distúrbio hemostático, assim como o manejo preconizado. Relato de caso: Os autores descrevem dois casos de deficiência de FXIII com diferentes manifestações hemorrágicas. O Caso 1 apresentou extenso hematoma espontâneo na coxa direita, enquanto o Caso 2 apresentou sangramento do cordão umbilical ao nascer e hemorragia intracraniana, necessitando de suporte hemoterápico. Ambos os pacientes apresentavam resultados normais nos testes laboratoriais de triagem para distúrbios de coagulação. As dosagens séricas de fatores de coagulação e de diagnóstico identificaram deficiência leve do Fator XIII no Caso 1 e grave no Caso 2. O paciente do Caso 1 está sob controle e acompanhamento regular, enquanto o paciente do Caso 2 está em regime profilático mensal com infusão de FXIII. Conclusão: O diagnóstico de Deficiência de FXIII em pacientes com sangramento importante deve ser considerado se os testes de coagulação de triagem forem normais. O Comitê Científico e de Padronização da Sociedade Internacional de Trombose e Hemostasia estabeleceu um algoritmo para o diagnóstico laboratorial e identificação de diferentes formas de deficiência FXIII. A determinação quantitativa da atividade do FXIII, ensaios antigênicos e estudos moleculares são necessários.

Analysis of the costs of the basic care line for sickle cell disease in Brazilian children under 5 years of age

ABSTRACT Objective: To evaluate and estimate the cost of basic care in sickle cell disease (SCD) for patients under five years of age, within the scope of the Unified Health System (SUS) and to discuss the costs related to possible complications of the disease from the literature. Methods: The main management and conduct recommendations in the SCD up to five years of age, with healthy and baseline health status, were extracted from the Basic Guidelines of the Care Line in the SCD of the Ministry of Health. Systematic data regarding costs of medicines were extracted from the Medicine Market Regulation Chamber. The SUS Table of Procedures, Medicines and Orthotics, Prosthetics and Auxiliary Means of Movement Management System was the guide for the values of complementary exams, as well as for medical consultations. The values applied to calculate the vaccination schedule were extracted from the Pan American Health Organization, adopting the perspective of the SUS-paying costs. Results: The total cost obtained for basic care of SCD in children up to five years of age, including the use of antibiotic prophylaxis, immunizations and the performance of transcranial Doppler ultrasound in the prevention and early detection of cerebrovascular accidents was, on average, $1020.96. Conclusion: The cost-effectiveness of prophylaxis in SCD, up to five years of age, exceeds the expenses resulting from hospitalizations due to complications of the disease. The study of expenses associated with SCD could be used to establish public policies, improve prevention strategies and treat the symptoms and complications of the disease.

Síndrome de leiomiomatose cutânea e uterina múltipla: relato de três casos clínicos / Multiple cutaneous and uterine leiomyomatosis syndrome: report of three clinical cases

A síndrome de Reed ocorre em mulheres com múltiplos leiomiomas cutâneos e leiomiomatose uterina. Relatam-se três casos de pacientes do sexo feminino, acompanhadas em hospital universitário, com pápulas e nódulos eritêmato-acas- tanhados dolorosos em membros superiores e tórax, agravados por frio, pressão e estresse, e associados a miomatose uterina. Foram realizados diversos tratamentos prévios, sem sucesso, tais como: aplicação de corticoterapia e toxina botulínica intralesional, bloqueadores de canais de cálcio, neuromoduladores e analgésicos orais. Foi, então, realizado tratamento cirúrgico, com melhora dos sintomas. O co- nhecimento e o esclarecimento dessa síndrome é fundamental para estabelecer a relação com miomatose uterina e câncer de células renais, para que, então, a partir da lesão de pele, se faça o rastreio das demais neoplasias, diagnóstico precoce e a educação em saúde.

Reed syndrome occurs in women with multiple cutaneous leiomyomas and uterine leiomyomatosis. We report the case of three female patients followed at a university hospital with painful erythematous-brown papules and nodules on the upper limbs and chest, aggravated by cold, pressure, stress, and associated with uterine myoma- tosis. Several previous unsuccessful treatments were performed, such as the applica- tion of corticotherapy and intralesional botulinum toxin, calcium channel blockers, neuromodulators, and analgesics. Surgical treatment was performed with the im- provement of symptoms. Knowledge and clarification of this syndrome are essential to establish a relationship between uterine myomatosis and renal cell neoplasm, so that, after the skin lesion, screening for other neoplasms, early diagnosis, and health education can be carried out.

Hiperpigmentação Mucocutânea Associada à Terapia de Hidroxiureia em Paciente com Trombocitemia Essencial: Relato de Caso / Mucocutaneous Hyperpigmentation Associated with Hydroxyurea Therapy in a Patient with Essential Thrombocythemia: Case Report

Introdução: A hiperpigmentação mucocutânea é uma condição dermatológica que pode estar relacionada a tratamentos quimioterápicos, a exemplo das terapias com uso de hidroxiureia (HU). A HU é um fármaco citostático de amplo uso nas doenças mieloproliferativas e compõe a principal linha de tratamento da trombocitemia essencial (TE). O presente estudo tem por objetivo relatar um caso raro de hiperpigmentação mucocutânea em um paciente com TE. Relato do caso: Paciente do sexo masculino, 68 anos de idade, 89 kg, com diagnóstico de TE, em uso de HU 2 g/dia. Com três meses de terapia, apresentou lesões hiperpigmentadas de coloração acastanhadas em pele das mãos e mucosa oral (língua). Em decisão partilhada com o médico-assistente, o paciente optou pela continuação do uso do medicamento. Após seis anos de acompanhamento, as lesões mantêm-se estáveis. Conclusão: A hiperpigmentação mucocutânea associada à terapia com HU é um evento benigno secundário ao uso do fármaco e não exige a interrupção de uso, porém, sua retirada, ou redução das doses, geralmente leva à diminuição ou ao desaparecimento das lesões.

Introduction: Mucocutaneous hyperpigmentation is a dermatological condition that may be related to chemotherapy treatments, such as therapies using hydroxyurea (HU). HU is a cytostatic drug widely used in myeloproliferative diseases and is the main line of treatment for essential thrombocythemia (ET). The present study aims to report a rare case of mucocutaneous hyperpigmentation in a patient with ET. Case report: Male patient, 68 years old, 89 kg, diagnosed with ET using HU 2 g/day. After three months of therapy, he presented hyperpigmented brownish-colored lesions on the hands and oral cavity (tongue). In a decision shared with the assistant physician, the patient chose to continue using the drug. After six years of follow-up, the lesions remain stable. Conclusion: Mucocutaneous hyperpigmentation associated with HU therapy is a benign event secondary to the use of the drug and does not require discontinuation of use, however, its withdrawal or dose reduction usually leads to the reduction or disappearance of the lesions

Introducción: La hiperpigmentación mucocutánea es una condición dermatológica que puede estar relacionada con tratamientos de quimioterapia, como las terapias con hidroxiurea (HU). La HU es un fármaco citostático ampliamente utilizado en enfermedades mieloproliferativas y es la principal línea de tratamiento de la trombocitemia esencial (TE). El presente estudio tiene como objetivo reportar un caso raro de hiperpigmentación mucocutánea en un paciente con TE. Informe del caso: Paciente masculino de 68 años, 89 kg, diagnosticado de TE mediante HU 2 g/día. A los tres meses de tratamiento presenta lesiones hiperpigmentadas de color pardusco en manos y cavidad oral (lengua). En una decisión compartida con el médico asistente, el paciente optó por continuar usando el medicamento. Tras seis años de seguimiento, las lesiones se mantienen estables. Conclusión: La hiperpigmentación mucocutánea asociada a la terapia con HU es un evento benigno secundario al uso del fármaco y no requiere la suspensión de su uso, sin embargo, su retirada o reducción de dosis suele conducir a la reducción o desaparición de las lesiones.

Liga Acadêmica de Hematologia (HemoLiga): atuação no ensino, pesquisa e extensão / Academic League of Hematology (HemoLiga): performance in Teaching, Research and Extension*

Introdução: As Ligas Acadêmicas (LAs) são organizações universitárias muito presentes nos cursos de medicina no Brasil, são de caráter extracurricular e complementar, fundamentadas no tripé ensino, pesquisa e extensão (EPE). Suas atividades tendem a aprofundar os conhecimentos sobre determinado tema, estimular a criatividade, o autoaprendizado e o espírito crítico dos estudantes a fim de proporcionar uma melhor formação profissional. Objetivo: Relatar o histórico e a atuação da HemoLiga (HL) com foco na produção científica e compará-la com outras LAs de Medicina do Brasil descritas na literatura. Material e Métodos: Leitura e análise das atas de reuniões da HL para a documentação histórica da liga associada a busca dos Currículos Lattes dos atuais e ex-integrantes da HL para levantamento de dados sobre a produção científica da liga. As informações obtidas foram tabeladas em planilhas de acordo com os subtipos de trabalhos. Foram realizados análises e cruzamento de variáveis para confecção de gráficos. Resultados: A HL é uma liga vinculada a três faculdades de medicina e possui 14 anos de existência. Ela atua no ensino através de reuniões e estágios práticos na área de Hematologia. A pesquisa constitui sua principal atuação, integrando, inclusive, linha de pesquisa internacional. Assim, desde a sua fundação, a HL consta de uma lista de 217 trabalhos científicos produzidos, sendo 32 artigos científicos, 180 resumos, três capítulos de livros e dois livros. Na extensão, a liga agrega os projetos Unir para Cuidar, Doador do Futuro, Triagem Neonatal e Amigo de Sangue. Conclusão: A HL por meio do seu escopo de atuação, em consonância com outras LAs, contribui através de seu perfil de iniciação científica na formação acadêmica de seus membros, além de beneficiar a sociedade através de seus projetos de extensão.

Introduction: The Academic Leagues (ALs) are very present organizations in Medicine courses in Brazil. They are extracurricular and complementary activities which are based on tripod education, research, and extension, aiming to promote a more profound knowledge on a given topic. As a result, it stimulates creativity, self-learning, and critical thinking to provide better professional training. Objective: Report the history and performance of HemoLiga (HL), focusing on scientific production and compare it with other Brazilian Medicine ALs presented in the literature. Material and Methods: Reading and analysis of HL meeting minutes for the league's historical documentation associated with the study of the Lattes Curriculum of current and former HL members to collect data on the league's scientific production. The information obtained was tabulated in spreadsheets according to the subtypes of work. Analysis and crossing of variables were performed to produce graphics. Results: HL has been functioning for 14 years and it is linked to three Medicine courses in Juiz de Fora. The aim of education is obtained through meetings and internships in the area of Hematology. Research is its main activity, including an international line of research. Since its foundation, HL has produced a list of 217 scientific works, including 32 scientific articles, 180 abstracts, three book chapters, and two books. Regarding the extension aspect, the league worked on the projects Unir para Cuidar, Doador do Futuro, Triagem Neonatal and Amigo de Sangue. Conclusion: Through its scope of action, as other ALs, HL contributes through its scientific initiation profile to the academic training of its members, in addition to benefiting society through its extension projects.

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.

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

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

Aspectos da assistência em pacientes com Doença Falciforme no contexto da pandemia da COVID-19 / Aspects of care in patients with Sickle Cell Disease in the context of the COVID-19 pandemic

Introdução: A pandemia determinada pelo novo coronavírus (SarsCoV-2), doença intitulada COVID-19, atingiu mais de 219 países com grande agravo e impacto à saúde mundial. A infecção pelo vírus desencadeia uma resposta imune explosiva, hiperativada e descontrolada, com manifestações clínicas graves em pessoas com doenças subjacentes. A Doença falciforme (DF), uma condição genética que determina imunosupressão, coloca os pacientes em maior risco de infecções respiratórias e complicações pulmonares dentro do contexto da pandemia. Objetivo: Analisar o impacto da COVID-19 em portadores de DF e propor uma diretriz de atendimento a esta população. Métodos: Trata- se de uma revisão sistemática de literatura onde foram analisados estudos, publicados originalmente em inglês, entre março a dezembro de 2020, tendo como referência as bases de dados MedLine, SciELO e LILACS. A busca foi efetuada mediante a consulta ao MeSH com os descritores "sickle cell disease", "covid-19"e "guideline". Foram identificados 64 artigos a partir da frase de pesquisa. Ao aplicar os critérios de inclusão, 7 artigos foram eleitos para o estudo. Resultados e Conclusão: A infecção pelo novo coronavírus pode precipitar intercorrências em pacientes com DF, como crises vaso-oclusivas e síndrome torácica aguda. Considerando esses dados, os autores formularam uma diretriz para orientação e cuidado aos indivíduos com DF

Introduction: The pandemic caused by the new coronavirus (SarsCoV-2), a disease called COVID-19, has reached more than 219 countries with great damage and impact on global health. The viral infection triggers an explosive, hyperactive and uncontrolled immune response, with severe clinical manifestations in people with underlying diseases. Sickle Cell Disease (SCD), a genetic condition that determines immunosuppression, causes patients a greater risk of respiratory infections and pulmonary complications within the context of the pandemic. Objective: To analyze the impact of COVID-19 in patients with SCD and propose a guideline to care for this population. Methods: This is a systematic literature review where studies were analyzed, originally published in English, between March and December 2020, using the MedLine, SciELO and LILACS databases as references. The search was carried out by consulting the MeSH with the descriptors "sickle cell disease", "covid-19" and "guideline". 64 articles were identified from the search phrase. When applying the inclusion criteria, 7 articles were chosen for the study. Results and Conclusion: The infection with the new coronavirus could cause complications in patients with SCD, such as vaso-occlusive crises and acute chest syndrome. Considering these data, the authors formulated a guideline for guidance and care for individuals with SCD.

Health-related quality of life in hemophilia: results of the Hemophilia-Specific Quality of Life Index (Haem-a-Qol) at a Brazilian blood center.

BACKGROUND: Studies on health-related quality of life are based on the increasingly evident need for medical care not to be limited to preventing death, but to focus instead on the value of health. OBJECTIVE: This study aimed to measure the health-related quality of life in hemophilia, using the Hemophilia- Specific Quality of Life (Haem-A-QoL) questionnaire and describe the socioeconomic characteristics and health conditions of these patients. METHODS: The Brazilian version of the Hemophilia-Specific Quality of Life questionnaire was administered to hemophiliac adults, treated in an on-demand regime at the Juiz de Fora Regional Blood Center - HEMOMINAS Foundation. The patients were interviewed about demographic and socioeconomic data and their understanding of the questionnaire. Clinical data were collected from medical records. The Mann-Whitney U test was used for statistical analysis. The level of significance was set for p-values < 0.05. Statistical analysis was performed using the Statistical Package for the Social Sciences (SPSS, version 15.0). RESULTS: Thirty-nine patients were evaluated. The mean age was 36.8 years. 84.6% had hemophilia A; 20.5% of the patients had hemophilia classified as mild, 41% as moderate and 38.5% as severe. The records of 10.5% of the patients registered seropositivity for anti-HIV and 57.9% for anti-HCV. Target joints were detected in 69.2%. The mean total Hemophilia-Specific Quality of Life score was 35.55. 'Sports and leisure'and 'Physical health'were the most impaired dimensions and the dimension 'Relationship and partners'was the least impaired. The Hemophilia-Specific Quality of Life scores showed good discriminant validity for hemophilia severity (p-value = 0.001), HIV-infection (p-value = 0.02), HCV-infection (p-value = 0.01) and the presence of target joints (p-value < 0.001). CONCLUSION: Health-related quality of life in hemophilia, measured by the Hemophilia-Specific Quality of Life questionnaire, was influenced by the presence of arthropathy and infectious diseases transmitted by blood products. Rehabilitation measures should be encouraged in order to improve the quality of life of these patients.

Clinical and functional evaluation of the joint status of hemophiliac adults at a Brazilian blood center.

BACKGROUND: Hemophilia is a potentially disabling condition as hemophilic arthropathy develops early in life and is progressive, especially in patients treated in an on-demand regime. OBJECTIVE: This study aimed to describe the structural joint status and the functional independence score of hemophiliac adults and correlate structural damage with the functional deficits found in these patients. METHODS: Hemophiliacs at the Juiz de Fora Regional Blood Center - HEMOMINAS Foundation, aged 18 years and over and treated in an on-demand regime, were clinically evaluated in respect to structural joint damage using the World Federation of Hemophilia Physical Examination Scale (WFH-PE) and functional deficits using the Functional Independence Score in Hemophilia (FISH). The Spearman rank test was used to evaluate the correlation between the two scores. RESULTS: Thirty-nine patients were evaluated. The mean age was 36.8 years. Target joints were detected in 69.2% of patients studied. The mean Physical Examination Scale and Functional Independence Score were 16.87 and 25.64, respectively. Patients with mild hemophilia showed no significant joint involvement. Patients with severe or moderate hemophilia had similar results regarding structural damage (p-value < 0.001) and functional deficits (p-value = 0.001). There was statistical significance in the correlation between the two scores (r = -0.850; p-value = 0.01). CONCLUSIONS: The World Federation of Hemophilia Physical Examination Scale and Functional Independence Score in Hemophilia may be useful to clinically assess structural joint damage and functional deficits in hemophiliacs as the tools are inexpensive and easy to administer and may be able to detect hemophilic arthropathy, which results from recurrent hemarthrosis and is common in the population studied.

Perfil do ambulatório de hematologia em um consórcio intermunicipal de saúde / Hematology outpatient clinic profile at an intercity health consortium

Ao se buscarem práticas de gestão inovadoras que concretizassem os princípios do Sistema Único de Saúde (SUS) no sentido de melhorar o atendimento à população, foram criados os Consórcios Intermunicipais de Saúde (CIS), que tentam disponibilizar o acesso à saúde desde os níveis mais elementares até os mais complexos de atenção terciária e quaternária. A Agência de Cooperação Intermunicipal em Saúde Pé da Serra (Acispes) é um consórcio com 24 municípios que tem como foco a promoção, proteção e recuperação da saúde de suas populações, com a realização de consultas e exames de média e alta complexidade. Foi criada em 1996, como uma associação civil sem fins econômicos, com sede em Juiz de Fora, Minas Gerais, e inaugurou o ambulatório de Hematologia Geral em setembro de 2009, visando atender os pacientes encaminhados da atenção primária. Esta pesquisa tem como objetivo conhecer o perfil epidemiológico dos pacientes e a prevalência de alterações hematológicas atendidas no Ambulatório de Hematologia da ACISPES Juiz de Fora − MG. Trata-se de um estudo transversal descritivo em 460 pacientes, com análise das seguintes variáveis: sexo, idade, procedência e diagnóstico. Os dados foram extraídos do Sistema de Gerenciamento de Recursos em Saúde (SGRS ­ SIG) e analisados por meio de Teste Qui- quadrado. O estudo revelou que a anemia foi a patologia mais prevalente, com 56,7%, seguida de Ao se buscarem práticas de gestão inovadoras que concretizassem os princípios do Sistema Único de Saúde (SUS) no sentido de melhorar o atendimento à população, foram criados os Consórcios Intermunicipais de Saúde (CIS), que tentam disponibilizar o acesso à saúde desde os níveis mais elementares até os mais complexos de atenção terciária e quaternária. A Agência de Cooperação Intermunicipal em Saúde Pé da Serra (Acispes) é um consórcio com 24 municípios que tem como foco a promoção, proteção e recuperação da saúde de suas populações, com a realização de consultas e exames de média e alta complexidade. Foi criada em 1996, como uma associação civil sem fins econômicos, com sede em Juiz de Fora, Minas Gerais, e inaugurou o ambulatório de Hematologia Geral em setembro de 2009, visando atender os pacientes encaminhados da atenção primária. Esta pesquisa tem como objetivo conhecer o perfil epidemiológico dos pacientes e a prevalência de alterações hematológicas atendidas no Ambulatório de Hematologia da ACISPES Juiz de Fora − MG. Trata-se de um estudo transversal descritivo em 460 pacientes, com análise das seguintes variáveis: sexo, idade, procedência e diagnóstico. Os dados foram extraídos do Sistema de Gerenciamento de Recursos em Saúde (SGRS ­ SIG) e analisados por meio de Teste Qui- quadrado. O estudo revelou que a anemia foi a patologia mais prevalente, com 56,7%, seguida de plaquetopenia (14,7%). 67% dos pacientes eram do sexo feminino; a faixa etária predominante foi dos 41 a 50 anos, com 18,3%. O muncípio que mais utilizou o serviço foi Simão Pereira, com 10,6 consultas/1000 habitantes. Conclui-se que a anemia tem alta prevalência na população, as mulheres são as principais usuárias do sistema de saúde e o Consórcio Intermunicipal de Saúde desempenhou importante papel resolutivo nas demandas da Atenção Primária à Saúde.

Seeking innovative management practices that materialize the principles of the Unified Health System (SUS) to improve the service to the population, the Intermunicipal Health Consortia (CIS) were created trying to provide access to health from the most elementary levels, even to the most complex of tertiary and quaternary care. The Intermunicipal Cooperation Agency "Pé da Serra" (Acispes) is a consortium of 24 municipalities, which focuses on the promotion, protection and recovery of health of their populations, with consultations and tests of medium and high complexity. In 1996, it was established as a non-profit civil association, based in Juiz de Fora, Minas Gerais and it opened the General Haematology Clinic in September 2009, to meet the patients referred from primary care. This research has the objective to get to know the epidemiological profile of patients and the prevalence of the pathologies treated at the Hematology Clinic of ACISPES Juiz De Fora ­ MG. This is a descriptive cross-sectional study involving 460 patients analyzing the following variables: gender, age, origin and diagnosis. The data was extracted from the Health Resources Management System (SGRS ­ SIG) and analyzed through the chi-squared test. The study revealed that anemia was the most prevalent pathology, with 56.7%, followed by thrombocytopenia (14.7%).67% of the patients were female; the most prevalent age group was from 41 to 50 years old, with 18.3%. The city that used the services the most was Simão Pereira, with 10.6 consultations per inhabitant. It is concluded that anemia has a high prevalence in the population, women were the main users of the service and the Intercity Health Consortium played an important role in resolving demands of the Primary Health Care.

Health-related quality of life in hemophilia: results of the Hemophilia-Specific Quality of Life Index (Haem-a-Qol) at a Brazilian blood center

BACKGROUND Studies on health-related quality of life are based on the increasingly evident need for medical care not to be limited to preventing death, but to focus instead on the value of health. OBJECTIVE This study aimed to measure the health-related quality of life in hemophilia, using the Hemophilia- Specific Quality of Life (Haem-A-QoL) questionnaire and describe the socioeconomic characteristics and health conditions of these patients. METHODS The Brazilian version of the Hemophilia-Specific Quality of Life questionnaire was administered to hemophiliac adults, treated in an on-demand regime at the Juiz de Fora Regional Blood Center - HEMOMINAS Foundation. The patients were interviewed about demographic and socioeconomic data and their understanding of the questionnaire. Clinical data were collected from medical records. The Mann-Whitney U test was used for statistical analysis. The level of significance was set for p-values < 0.05. Statistical analysis was performed using the Statistical Package for the Social Sciences (SPSS, version 15.0). RESULTS Thirty-nine patients were evaluated. The mean age was 36.8 years. 84.6% had hemophilia A; 20.5% of the patients had hemophilia classified as mild, 41% as moderate and 38.5% as severe. The records of 10.5% of the patients registered seropositivity for anti-HIV and 57.9% for anti-HCV. Target joints were detected in 69.2%. The mean total Hemophilia-Specific Quality of Life score was 35.55. 'Sports and leisure'and 'Physical health'were the most impaired dimensions and the dimension 'Relationship and partners'was the least impaired. The Hemophilia-Specific Quality of Life scores showed good discriminant validity for hemophilia severity (p-value = 0.001), HIV-infection (p-value = 0.02), HCV-infection (p-value = 0.01) and the presence of target joints (p-value < 0.001)...

Clinical and functional evaluation of the joint status of hemophiliac adults at a Brazilian blood center

BACKGROUND: Hemophilia is a potentially disabling condition as hemophilic arthropathy develops early in life and is progressive, especially in patients treated in an on-demand regime. Objective: This study aimed to describe the structural joint status and the functional independence score of hemophiliac adults and correlate structural damage with the functional deficits found in these patients. METHODS: Hemophiliacs at the Juiz de Fora Regional Blood Center - HEMOMINAS Foundation, aged 18 years and over and treated in an on-demand regime, were clinically evaluated in respect to structural joint damage using the World Federation of Hemophilia Physical Examination Scale (WFH-PE) and functional deficits using the Functional Independence Score in Hemophilia (FISH). The Spearman rank test was used to evaluate the correlation between the two scores. RESULTS: Thirty-nine patients were evaluated. The mean age was 36.8 years. Target joints were detected in 69.2% of patients studied. The mean Physical Examination Scale and Functional Independence Score were 16.87 and 25.64, respectively. Patients with mild hemophilia showed no significant joint involvement. Patients with severe or moderate hemophilia had similar results regarding structural damage (p-value < 0.001) and functional deficits (p-value = 0.001). There was statistical significance in the correlation between the two scores (r = -0.850; p-value = 0.01). CONCLUSIONS: The World Federation of Hemophilia Physical Examination Scale and Functional Independence Score in Hemophilia may be useful to clinically assess structural joint damage and functional deficits in hemophiliacs as the tools are inexpensive and easy to administer and may be able to detect hemophilic arthropathy, which results from recurrent hemarthrosis and is common in the population studied.