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BACKGROUND: Immunohematology tests are crucial in transfusion safety. This study aimed to assess irregular red blood cell (RBC) antibodies, abnormal hemoglobin and dangerous universal blood donors at a public blood center in a Brazilian metropolitan area. METHODS: A cross-sectional study included all consecutive blood donors from January 2018 to December 2021 at the Brasília Blood Center Foundation, Federal District (FD), Brazil. RESULTS: Among 205,965 blood donations, irregular RBC antibodies were found in 743 (0.4 %). Abnormal hemoglobin was observed in 5396 (2.6 %): 3959 (1.9 %) with Hb AS, 1344 (0.7 %) with Hb AC, and 93 (< 0,1 %) with other hemoglobin variants. Of O group donors, 12.5 % (9646) had hemolysins: 12.5 % (2410) both anti-A and anti-B, 8.7 % (9646) only anti-A, and 1.6 % (1763) only anti-B hemolysins. Female sex (p < 0.001) and increasing age (p < 0.001) were associated with irregular RBC antibodies. O and/or Rh(D)-positive blood groups had a lower prevalence of irregular RBC antibodies compared to other ABO and/or Rh(D)-negative groups. Age (p < 0.001) and female sex (p < 0.001) were associated with anti-A/anti-B hemolysins, while FD residency was associated with reduced incidence (p < 0.001). CONCLUSION: Anti-A/anti-B hemolysins in O group donors, abnormal hemoglobin and irregular RBC antibodies pose risks to transfusion practice and should not be overlooked. Advancing age, female sex, ABO blood group other than O, or Rh(D)- negative are independently associated with the presence of irregular RBC antibodies. Dangerous universal blood donors were associated with advanced age, female gender, Rh(D)-positive blood type, and individuals residing in a Brazilian state other than where the blood center was located.

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BACKGROUND: Sickle cell disease is a severe genetic disorder, and searching for therapeutic strategies is indispensable for prolonged and improved life for people affected by this condition. OBJECTIVE: This qualitative systematic review aimed to highlight the therapeutic potential of omega- 3 (n-3) in people with sickle cell disease. METHODS: The search was performed by combining sickle cell disease and n-3 descriptors in DeCS/ MeSH databases, including Scopus, PubMed, ScienceDirect, Web of Science, and Virtual Health Library. The risk of bias assessment in the primary studies was performed using the Cochrane risk of bias tool for randomized controlled trials. The evidence quality was evaluated using the Grading of Recommendations Assessment, Development, and Evaluation (GRADE) tool. RESULTS: From the 187 records identified, seven were selected for data collection. Based on the evidence, n-3 supplementation contributes to lower activation of pro-inflammatory biomarkers, improves the concentration of docosahexaenoic and eicosapentaenoic acids in the erythrocyte membrane, provides better hemostatic response, and helps in vaso-occlusive crisis, pain episodes, and hospitalization reduction. CONCLUSION: The findings suggest that n-3 adjuvant therapy favors the clinical and general aspects of people with sickle cell disease.

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Abstract The aim of this study was to evaluate the impact of oral conditions and health-related quality of life (HRQoL) on oral health-related quality of life (OHRQoL) in children and adolescents with blood coagulation disorders and hemoglobinopathies (BCDH). The study was cross-sectional and included 61 individuals aged 2 to 18 years with BCDH. Exams for dental caries (dmft/DMFT index), oral hygiene (simplified oral hygiene index - OHI-S), and gingival health (modified gingival index - MGI) were performed. The pediatric quality of life inventory™ (PedsQL™) generic core scale and oral health scale were used to measure HRQoL and OHRQoL. Spearman's correlation coefficient (ρ) and the Mann-Whitney test (α = 0.05) were conducted to assess the relationship between covariates and the PedsQL™ oral health scale. The mean PedsQL™ oral health scale score was 76.66 (SD = 21.36). Worse OHRQoL was correlated with poor oral hygiene (ρ = -0.383; p: 0.004), poor gingival health (ρ = -0.327; p = 0.014), and better HRQoL (ρ = 0.488; p < 0.001). Greater untreated dental caries experience was associated with worse OHRQoL (p = 0.009). Worse oral health status in children and adolescents with BCDH negatively impacts OHRQoL, and OHRQoL and quality of life analyzed from a generic perspective are positively correlated constructs in this population.

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ABSTRACT Introduction: Colombia has been subject to intense genetic and cultural currents due to its geographical location. Hemoglobinopathies are the most common recessive diseases found worldwide and represent an important public health problem, according to the region and ancestry of each country. Objectives: To evaluate the frequency of hemoglobin variants according to the geographical region in a population group adjusted to sex and age in Colombia. Methods: This was a descriptive retrospective study of hemoglobin variants performed by electrophoresis in patients treated at and/or referred to specialized care institutions in Bogota, Colombia between January 2009 and December 2020. Results: A total of 2,224 results were analyzed, 48.4% male and 51.5% female; 63.3% of patients were without alterations, 14.3% presented with thalassemia, 17.3%, HbS, 2.3%, HbS/C, 1.8%, HbC, 0.5%, HbE and 0.5% persistent HbF, with HbS being more prevalent in males (p = 0.005). When assessing the geographical regions of Colombia, a higher prevalence of HbS was found in the Pacific (p = 0.005) and Caribbean regions, while Thalassemia and HbS were more prevalent in the Andean and Orinoquia regions, and it was rare to find any hemoglobinopathies (p = 0.0001) in the Amazonian region. Conclusions: The main hemoglobinopathies found in Colombia are HbS, predominantly in males, and Thalassemia. The distribution of hemoglobinopathies in different geographical regions of Colombia is influenced by ancestry.

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INTRODUCTION: The beneficial effects of physical exercise on functional capacity and inflammatory response are well-known in cardiovascular diseases; however, studies on sickle cell disease (SCD) are limited. It was hypothesized that physical exercise may exert a favorable effect on the inflammatory response of SCD patients, contributing to an improved quality of life. This study aimed to evaluate the effect of a regular physical exercise program on the anti-inflammatory responses in SCD patients. METHODS: A non-randomized clinical trial was conducted in adult SCD patients. The patients were divided into two groups: 1-Exercise Group, which received a physical exercise program three times a week for 8 weeks, and; 2-Control Group, with routine physical activities. All patients underwent the following procedures initially and after eight weeks of protocol: clinical evaluation, physical evaluation, laboratory evaluation, quality of life evaluation, and echocardiographic evaluation. STATISTICAL ANALYSIS: Comparisons between groups were made using Student's t-test, Mann-Whitney test, chi-square test, or Fisher's exact test. Spearman's correlation coefficient was calculated. The significance level was set at p < 0.05. RESULTS: There was no significant difference in inflammatory response between the Control and Exercise Groups. The Exercise Group showed an improvement in peak VO2 values (p < 0.001), an increase in the distance walked (p < 0.001), an improvement in the limitation domain due to the physical aspects of the 36-Item Short Form Health Survey (SF-36) quality of life questionnaire (p = 0.022), and an increase in physical activity related to leisure (p < 0.001) and walking (p = 0.024) in the International Physical Activity Questionnaire (IPAQ). There was a negative correlation between IL-6 values and distance walked on the treadmill (correlation coefficient -0.444, p = 0.020) and the estimated peak VO2 values (correlation coefficient -0.480; p = 0.013) in SCD patients in both groups. CONCLUSIONS: The aerobic exercise program did not change the inflammatory response profile of SCD patients, nor did it show unfavorable effects on the parameters evaluated, and patients with lower functional capacity were those with the highest levels of IL-6.

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Background: Sickle cell trait (SCT) is an autosomal recessive blood disorder in which patients are heterozygous carriers for hemoglobin S (HbAS) and are usually asymptomatic. We performed a descriptive analysis of clinical manifestations and outcomes associated with SCT. Methods: This was a descriptive, cross-sectional study that included patients with SCT from 2014 to 2020 at Hospital Militar Central, the reference center of the Military forces in Bogota, Colombia. Results: Of 647 hemoglobin electrophoresis analyzed, we identified 51 patients with SCT, including 43 males (84.3%) and eight females (15.7%), with a median age of 22 years (IQR 15-36 years). Of these, 28 (54.8%) were Afro-Colombian, 23 (45.1%) were Colombian mestizos, and 31/51 (60.8%) of patients were active military members. Twenty-four patients (47.1%) were asymptomatic, and Twenty-seven patients (52.9%) were symptomatic (systemic complications); Most of the patients who presented symptoms were active military members of the Colombian military forces. Splenic complications were the most important (85.2%), p=0.0005, and there was a wide spectrum of splenic complications. In addition, we found significant elevations in leukocytes, bilirubin, LDH, and CRP. Eighteen patients (66.7%) received medical management, five (18.5%) required splenectomy, and only 5.9% of patients were sent for genetic counseling. Conclusions: Military Personnel is a population with a high risk of developing symptoms, and splenic complications were the most relevant in symptomatic patients. Most patients received medical treatment, and 18.5% of patients required splenectomy. Our results reflect the absence of redirection of these patients to genetic counseling.

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Brazilian quilombos are communities formed by enslaved Africans and their descendants all over the country during slavery and shortly after its abolition. Quilombos harbor a great fraction of the largely unknown genetic diversity of the African diaspora in Brazil. Thus, genetic studies in quilombos have the potential to provide important insights not only into the African roots of the Brazilian population but also into the genetic bases of complex traits and human adaptation to diverse environments. This review summarizes the main results of genetic studies performed on quilombos so far. Here, we analyzed the patterns of African, Amerindian, European, and subcontinental ancestry (within Africa) of quilombos from the five different geographic regions of Brazil. In addition, uniparental markers (from the mtDNA and the Y chromosome) studies are analyzed together to reveal demographic processes and sex-biased admixture that occurred during the formation of these unique populations. Lastly, the prevalence of known malaria-adaptive African mutations and other African-specific variants discovered in quilombos, as well as the genetic bases of health-related traits, are discussed here, together with their implication for the health of populations of African descent.

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INTRODUCTION: Colombia has been subject to intense genetic and cultural currents due to its geographical location. Hemoglobinopathies are the most common recessive diseases found worldwide and represent an important public health problem, according to the region and ancestry of each country. OBJECTIVES: To evaluate the frequency of hemoglobin variants according to the geographical region in a population group adjusted to sex and age in Colombia. METHODS: This was a descriptive retrospective study of hemoglobin variants performed by electrophoresis in patients treated at and/or referred to specialized care institutions in Bogota, Colombia between January 2009 and December 2020. RESULTS: A total of 2,224 results were analyzed, 48.4% male and 51.5% female; 63.3% of patients were without alterations, 14.3% presented with thalassemia, 17.3%, HbS, 2.3%, HbS/C, 1.8%, HbC, 0.5%, HbE and 0.5% persistent HbF, with HbS being more prevalent in males (p = 0.005). When assessing the geographical regions of Colombia, a higher prevalence of HbS was found in the Pacific (p = 0.005) and Caribbean regions, while Thalassemia and HbS were more prevalent in the Andean and Orinoquia regions, and it was rare to find any hemoglobinopathies (p = 0.0001) in the Amazonian region. CONCLUSIONS: The main hemoglobinopathies found in Colombia are HbS, predominantly in males, and Thalassemia. The distribution of hemoglobinopathies in different geographical regions of Colombia is influenced by ancestry.

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SUMMARY OBJECTIVE: Sickle cell disease is the most frequent of the hereditary hemoglobinopathies and it presents multisystemic effects. A manifestation that is commonly found in sickle cell disease is upper airway obstruction, particularly adenotonsillar hypertrophy. This study aims to evaluate the peak nasal inspiratory flow measurements of children and adolescents with sickle cell disease. METHODS: This is a case-control study on children aged between 8 and 15 years who were diagnosed with sickle cell disease. Peak nasal inspiratory flow measurements were obtained from patients. RESULTS: A total of 279 patients were enrolled in this study, with 93 in the case group and 186 in the control group. The case group had an 82.83% chance of having lower peak nasal inspiratory flow values than the control group. In the case group, 75% of the peak nasal inspiratory flow values were in the lower standards, whereas in the control group, only 25% were in the lower standards. CONCLUSION: This study showed a high prevalence of reduced peak nasal inspiratory flow values in children with sickle cell disease and could certainly be incorporated into the day-to-day clinical evaluation of patients as a screening instrument.

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ABSTRACT Objective: to investigate the level of knowledge of nurses in Basic Health Units and their engagement in monitoring patients with sickle cell disease and other hemoglobinopathies. Methods: this is a qualitative, descriptive-exploratory study, carried out with 12 nurses from basic health units in the municipality of Santa Luzia/Minas Gerais between August 2018 and February 2019. The semi-structured interview was the technique used for data collection, which was analyzed using Content Analysis. Results: the analysis of the interviews emerged in the construction of three categories: understanding of sickle cell disease, risk factors, and alterations on physical examination; nursing care at the health unit according to the recommendation of the Ministry of Health; obstacles and facilitators for the tracking and identification of patients. Discourse analysis highlighted: the outstanding presence of misconceptions regarding sickle cell disease; the absence of effective follow-up of patients in the area covered by the nurse; and the non-existence of a positive sickle cell disease patient link with primary care. Conclusion: although nursing plays a fundamental role in monitoring and assisting patients with sickle cell disease, the study revealed a significant gap between care recommendations and practice in basic health units.

RESUMEN Objetivo: investigar el nivel de conocimiento de los enfermeros de las Unidades Básicas de Salud y su participación en el seguimiento de pacientes con enfermedad de células falciformes y otras hemoglobinopatías. Método: se trata de un estudio cualitativo descriptivo-exploratorio, realizado con 12 enfermeros de unidades básicas de salud de la ciudad de Santa Luzia/Minas Gerais entre agosto de 2018 y febrero de 2019. La entrevista semiestructurada fue la técnica utilizada para la recolección de datos, que fueron analizados mediante el Análisis de Contenido. Resultados: el análisis de las entrevistas emergió en la construcción de tres categorías: comprensión sobre la enfermedad de células falciformes, factores de riesgo y alteraciones en el examen físico; atención de enfermería en la unidad de salud según recomendación del Ministerio de salud; obstáculos y facilitadores para el seguimiento e identificación de pacientes. El análisis del discurso destacó: la marcada presencia de conceptos erróneos en relación con la enfermedad de células falciformes; la falta de seguimiento efectivo de los pacientes en el área cubierta por la enfermera; y la inexistencia de un vínculo positivo entre el paciente y la enfermedad células falciformes con atención primaria. Conclusiones: si bien la enfermería tiene un papel fundamental en la conducción del seguimiento y atención de los pacientes con enfermedad de células falciformes, el estudio reveló una brecha significativa entre las recomendaciones de atención y la práctica en las unidades básicas de salud.

RESUMO Objetivos: investigar o nível de conhecimento dos enfermeiros das Unidades Básicas de Saúde e o engajamento destes no acompanhamento de pacientes com doença falciforme e outras hemoglobinopatias. Métodos: este é um estudo qualitativo descritivo-exploratório, realizado com 12 enfermeiros de unidades básicas de saúde do município de Santa Luzia/Minas Gerais entre agosto de 2018 a fevereiro de 2019. A entrevista semiestruturada foi a técnica utilizada para coleta de dados, as quais foram analisadas usando a Análise de Conteúdo. Resultados a análise das entrevistas emergiu na construção de três categorias: compreensão sobre a doença falciforme, fatores de risco e alterações ao exame físico; assistência do enfermeiro na unidade de saúde segundo a recomendação do Ministério da Saúde; dificultadores e facilitadores para o rastreamento e identificação dos pacientes. A análise do discurso destacou: a presença marcante de conceitos equivocados em relação à doença falciforme; a ausência de acompanhamento efetivo dos pacientes da área de abrangência do enfermeiro; e a não existência de vínculo entre paciente com doença falciforme positivo e a atenção básica ou uma lacuna significativa entre as recomendações de cuidado e a prática nas unidades básicas de saúde. Conclusão: embora a enfermagem desempenhe um papel fundamental no monitoramento e na assistência aos pacientes com doença falciforme, o estudo revelou uma lacuna significativa entre as recomendações de cuidados e a prática nas unidades básicas de saúde.

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A group of inherited blood defects is known as Thalassemia is among the world's most prevalent hemoglobinopathies. Thalassemias are of two types such as Alpha and Beta Thalassemia. The cause of these defects is gene mutations leading to low levels and/or malfunctioning α and β globin proteins, respectively. In some cases, one of these proteins may be completely absent. α and β globin chains form a globin fold or pocket for heme (Fe++) attachment to carry oxygen. Genes for alpha and beta-globin proteins are present in the form of a cluster on chromosome 16 and 11, respectively. Different globin genes are used at different stages in the life course. During embryonic and fetal developmental stages, γ globin proteins partner with α globin and are later replaced by β globin protein. Globin chain imbalances result in hemolysis and impede erythropoiesis. Individuals showing mild symptoms include carriers of alpha thalassemia or the people bearing alpha or beta-thalassemia trait. Alpha thalassemia causes conditions like hemolytic anemia or fatal hydrops fetalis depending upon the severity of the disease. Beta thalassemia major results in hemolytic anemia, growth retardation, and skeletal aberrations in early childhood. Children affected by this disorder need regular blood transfusions throughout their lives. Patients that depend on blood transfusion usually develop iron overload that causes other complications in the body systems like renal or hepatic impairment therefore, thalassemias are now categorized as a syndrome. The only cure for Thalassemias would be a bone marrow transplant, or gene therapy with currently no significant success rate. A thorough understanding of the molecular basis of this syndrome may provide novel insights and ideas for its treatment, as scientists have still been unable to find a permanent cure for this deadly disease after more than 87 years since it is first described in 1925.(AU)

Um grupo de defeitos sanguíneos hereditários é conhecido como talassemia e está entre as hemoglobinopatias mais prevalentes do mundo. As talassemias são de dois tipos, como talassemia alfa e beta. As causas desses defeitos são as mutações genéticas que levam a níveis baixos e/ou proteínas de globina com mau funcionamento, respectivamente. Em alguns casos, uma dessas proteínas pode estar completamente ausente. As cadeias de globina α e β formam uma dobra ou bolsa de globina para a fixação de heme (Fe ++) para transportar oxigênio. Os genes das proteínas alfa e beta globina estão presentes na forma de um cluster nos cromossomos 16 e 11, respectivamente. Diferentes genes de globina são usados em diferentes estágios do curso de vida. Durante os estágios de desenvolvimento embrionário e fetal, as proteínas γ globina se associam à α globina e, posteriormente, são substituídas pela proteína β globina. Os desequilíbrios da cadeia de globina resultam em hemólise e impedem a eritropoiese. Indivíduos que apresentam sintomas leves incluem portadores de talassemia alfa ou as pessoas com traços de talassemia alfa ou beta. A talassemia alfa causa condições como anemia hemolítica ou hidropsia fetal fatal, dependendo da gravidade da doença. A beta talassemia principal resulta em anemia hemolítica, retardo de crescimento e aberrações esqueléticas na primeira infância. As crianças afetadas por esse distúrbio precisam de transfusões de sangue regulares ao longo da vida. Os pacientes que dependem de transfusão de sangue geralmente desenvolvem sobrecarga de ferro que causa outras complicações nos sistemas do corpo, como insuficiência renal ou hepática, portanto as talassemias agora são classificadas como uma síndrome. A única cura para as talassemias seria um transplante de medula óssea ou terapia genética sem atualmente uma taxa de sucesso significativa. Uma compreensão completa da base molecular dessa síndrome pode fornecer novos insights e ideias para seu tratamento, [...].(AU)

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RESUMEN

Abstract A group of inherited blood defects is known as Thalassemia is among the world's most prevalent hemoglobinopathies. Thalassemias are of two types such as Alpha and Beta Thalassemia. The cause of these defects is gene mutations leading to low levels and/or malfunctioning α and β globin proteins, respectively. In some cases, one of these proteins may be completely absent. α and β globin chains form a globin fold or pocket for heme (Fe++) attachment to carry oxygen. Genes for alpha and beta-globin proteins are present in the form of a cluster on chromosome 16 and 11, respectively. Different globin genes are used at different stages in the life course. During embryonic and fetal developmental stages, γ globin proteins partner with α globin and are later replaced by β globin protein. Globin chain imbalances result in hemolysis and impede erythropoiesis. Individuals showing mild symptoms include carriers of alpha thalassemia or the people bearing alpha or beta-thalassemia trait. Alpha thalassemia causes conditions like hemolytic anemia or fatal hydrops fetalis depending upon the severity of the disease. Beta thalassemia major results in hemolytic anemia, growth retardation, and skeletal aberrations in early childhood. Children affected by this disorder need regular blood transfusions throughout their lives. Patients that depend on blood transfusion usually develop iron overload that causes other complications in the body systems like renal or hepatic impairment therefore, thalassemias are now categorized as a syndrome. The only cure for Thalassemias would be a bone marrow transplant, or gene therapy with currently no significant success rate. A thorough understanding of the molecular basis of this syndrome may provide novel insights and ideas for its treatment, as scientists have still been unable to find a permanent cure for this deadly disease after more than 87 years since it is first described in 1925.

Resumo Um grupo de defeitos sanguíneos hereditários é conhecido como talassemia e está entre as hemoglobinopatias mais prevalentes do mundo. As talassemias são de dois tipos, como talassemia alfa e beta. As causas desses defeitos são as mutações genéticas que levam a níveis baixos e/ou proteínas de globina com mau funcionamento, respectivamente. Em alguns casos, uma dessas proteínas pode estar completamente ausente. As cadeias de globina α e β formam uma dobra ou bolsa de globina para a fixação de heme (Fe ++) para transportar oxigênio. Os genes das proteínas alfa e beta globina estão presentes na forma de um cluster nos cromossomos 16 e 11, respectivamente. Diferentes genes de globina são usados ​​em diferentes estágios do curso de vida. Durante os estágios de desenvolvimento embrionário e fetal, as proteínas γ globina se associam à α globina e, posteriormente, são substituídas pela proteína β globina. Os desequilíbrios da cadeia de globina resultam em hemólise e impedem a eritropoiese. Indivíduos que apresentam sintomas leves incluem portadores de talassemia alfa ou as pessoas com traços de talassemia alfa ou beta. A talassemia alfa causa condições como anemia hemolítica ou hidropsia fetal fatal, dependendo da gravidade da doença. A beta talassemia principal resulta em anemia hemolítica, retardo de crescimento e aberrações esqueléticas na primeira infância. As crianças afetadas por esse distúrbio precisam de transfusões de sangue regulares ao longo da vida. Os pacientes que dependem de transfusão de sangue geralmente desenvolvem sobrecarga de ferro que causa outras complicações nos sistemas do corpo, como insuficiência renal ou hepática, portanto as talassemias agora são classificadas como uma síndrome. A única cura para as talassemias seria um transplante de medula óssea ou terapia genética sem atualmente uma taxa de sucesso significativa. Uma compreensão completa da base molecular dessa síndrome pode fornecer novos insights e ideias para seu tratamento, já que os cientistas ainda não conseguiram encontrar uma cura permanente para essa doença mortal depois de mais de 87 anos desde que foi descrita pela primeira vez em 1925.

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RESUMEN

A group of inherited blood defects is known as Thalassemia is among the world's most prevalent hemoglobinopathies. Thalassemias are of two types such as Alpha and Beta Thalassemia. The cause of these defects is gene mutations leading to low levels and/or malfunctioning α and β globin proteins, respectively. In some cases, one of these proteins may be completely absent. α and β globin chains form a globin fold or pocket for heme (Fe++) attachment to carry oxygen. Genes for alpha and beta-globin proteins are present in the form of a cluster on chromosome 16 and 11, respectively. Different globin genes are used at different stages in the life course. During embryonic and fetal developmental stages, γ globin proteins partner with α globin and are later replaced by β globin protein. Globin chain imbalances result in hemolysis and impede erythropoiesis. Individuals showing mild symptoms include carriers of alpha thalassemia or the people bearing alpha or beta-thalassemia trait. Alpha thalassemia causes conditions like hemolytic anemia or fatal hydrops fetalis depending upon the severity of the disease. Beta thalassemia major results in hemolytic anemia, growth retardation, and skeletal aberrations in early childhood. Children affected by this disorder need regular blood transfusions throughout their lives. Patients that depend on blood transfusion usually develop iron overload that causes other complications in the body systems like renal or hepatic impairment therefore, thalassemias are now categorized as a syndrome. The only cure for Thalassemias would be a bone marrow transplant, or gene therapy with currently no significant success rate. A thorough understanding of the molecular basis of this syndrome may provide novel insights and ideas for its treatment, as scientists have still been unable to find a permanent cure for this deadly disease after more than 87 years since it is first described in 1925.

Um grupo de defeitos sanguíneos hereditários é conhecido como talassemia e está entre as hemoglobinopatias mais prevalentes do mundo. As talassemias são de dois tipos, como talassemia alfa e beta. As causas desses defeitos são as mutações genéticas que levam a níveis baixos e/ou proteínas de globina com mau funcionamento, respectivamente. Em alguns casos, uma dessas proteínas pode estar completamente ausente. As cadeias de globina α e β formam uma dobra ou bolsa de globina para a fixação de heme (Fe ++) para transportar oxigênio. Os genes das proteínas alfa e beta globina estão presentes na forma de um cluster nos cromossomos 16 e 11, respectivamente. Diferentes genes de globina são usados em diferentes estágios do curso de vida. Durante os estágios de desenvolvimento embrionário e fetal, as proteínas γ globina se associam à α globina e, posteriormente, são substituídas pela proteína β globina. Os desequilíbrios da cadeia de globina resultam em hemólise e impedem a eritropoiese. Indivíduos que apresentam sintomas leves incluem portadores de talassemia alfa ou as pessoas com traços de talassemia alfa ou beta. A talassemia alfa causa condições como anemia hemolítica ou hidropsia fetal fatal, dependendo da gravidade da doença. A beta talassemia principal resulta em anemia hemolítica, retardo de crescimento e aberrações esqueléticas na primeira infância. As crianças afetadas por esse distúrbio precisam de transfusões de sangue regulares ao longo da vida. Os pacientes que dependem de transfusão de sangue geralmente desenvolvem sobrecarga de ferro que causa outras complicações nos sistemas do corpo, como insuficiência renal ou hepática, portanto as talassemias agora são classificadas como uma síndrome. A única cura para as talassemias seria um transplante de medula óssea ou terapia genética sem atualmente uma taxa de sucesso significativa. Uma compreensão completa da base molecular dessa síndrome pode fornecer novos insights e ideias para seu tratamento, [...].

Asunto(s)

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Abstract A group of inherited blood defects is known as Thalassemia is among the worlds most prevalent hemoglobinopathies. Thalassemias are of two types such as Alpha and Beta Thalassemia. The cause of these defects is gene mutations leading to low levels and/or malfunctioning and globin proteins, respectively. In some cases, one of these proteins may be completely absent. and globin chains form a globin fold or pocket for heme (Fe++) attachment to carry oxygen. Genes for alpha and beta-globin proteins are present in the form of a cluster on chromosome 16 and 11, respectively. Different globin genes are used at different stages in the life course. During embryonic and fetal developmental stages, globin proteins partner with globin and are later replaced by globin protein. Globin chain imbalances result in hemolysis and impede erythropoiesis. Individuals showing mild symptoms include carriers of alpha thalassemia or the people bearing alpha or beta-thalassemia trait. Alpha thalassemia causes conditions like hemolytic anemia or fatal hydrops fetalis depending upon the severity of the disease. Beta thalassemia major results in hemolytic anemia, growth retardation, and skeletal aberrations in early childhood. Children affected by this disorder need regular blood transfusions throughout their lives. Patients that depend on blood transfusion usually develop iron overload that causes other complications in the body systems like renal or hepatic impairment therefore, thalassemias are now categorized as a syndrome. The only cure for Thalassemias would be a bone marrow transplant, or gene therapy with currently no significant success rate. A thorough understanding of the molecular basis of this syndrome may provide novel insights and ideas for its treatment, as scientists have still been unable to find a permanent cure for this deadly disease after more than 87 years since it is first described in 1925.

Resumo Um grupo de defeitos sanguíneos hereditários é conhecido como talassemia e está entre as hemoglobinopatias mais prevalentes do mundo. As talassemias são de dois tipos, como talassemia alfa e beta. As causas desses defeitos são as mutações genéticas que levam a níveis baixos e/ou proteínas de globina com mau funcionamento, respectivamente. Em alguns casos, uma dessas proteínas pode estar completamente ausente. As cadeias de globina e formam uma dobra ou bolsa de globina para a fixação de heme (Fe ++) para transportar oxigênio. Os genes das proteínas alfa e beta globina estão presentes na forma de um cluster nos cromossomos 16 e 11, respectivamente. Diferentes genes de globina são usados em diferentes estágios do curso de vida. Durante os estágios de desenvolvimento embrionário e fetal, as proteínas globina se associam à globina e, posteriormente, são substituídas pela proteína globina. Os desequilíbrios da cadeia de globina resultam em hemólise e impedem a eritropoiese. Indivíduos que apresentam sintomas leves incluem portadores de talassemia alfa ou as pessoas com traços de talassemia alfa ou beta. A talassemia alfa causa condições como anemia hemolítica ou hidropsia fetal fatal, dependendo da gravidade da doença. A beta talassemia principal resulta em anemia hemolítica, retardo de crescimento e aberrações esqueléticas na primeira infância. As crianças afetadas por esse distúrbio precisam de transfusões de sangue regulares ao longo da vida. Os pacientes que dependem de transfusão de sangue geralmente desenvolvem sobrecarga de ferro que causa outras complicações nos sistemas do corpo, como insuficiência renal ou hepática, portanto as talassemias agora são classificadas como uma síndrome. A única cura para as talassemias seria um transplante de medula óssea ou terapia genética sem atualmente uma taxa de sucesso significativa. Uma compreensão completa da base molecular dessa síndrome pode fornecer novos insights e ideias para seu tratamento, já que os cientistas ainda não conseguiram encontrar uma cura permanente para essa doença mortal depois de mais de 87 anos desde que foi descrita pela primeira vez em 1925.

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The present study aimed at estimating the prevalence of structural hemoglobinopathies in newborn and describing the hematological and biochemical characteristics between postpartum women (PW) and their respective newborns (NB) at a public maternity hospital in Manaus, Amazonas state, Brazil. In total, 825 NB and 820 PW were included in the study. Hematological and biochemical analysis and screening of structural hemoglobinopathies were performed and compared in groups of individuals (NICU or not; hemoglobin genotypes; gestational age and prenatal). The age of PW ranged from 13 to 44 years old (mean of 23.7 ± 6.6 years), with 45.9% pregnant for the first time and 54.1% multiparous. Reported receiving prenatal care 88% and regarding the type of delivery, 47.7% had delivered by cesarean section. Among the births, 19.4% were born premature and 8.3% were admission to the neonatal intensive care unit (NICU). The male NB represented 53.4% of the total. Sickle cell trait (FAS) was found in 16 (1.94%) and heterozygous for D hemoglobin (FAD) in 6 (0.73%) newborns. A statistically significant values was found between the previous history of miscarriage and increase of Mean corpuscular volume (MCV) (p < .001), Red blood cell distribution width (RDW) (p = .003), total and indirect bilirubin concentration (p < .001) and LDL cholesterol (p = .004). Hemoglobin levels below 13.5 g/dL was found in 66% black newborns, compared with 15% of Afro-Brazilian and 5% of whites. The frequency of structural hemoglobinopathies was higher in African-Brazilian newborn babies (78%) and those who with low birth weight had a higher frequency of NICU (35.7%). Interestingly, underage mothers had a higher frequency of NB with low birth weight and premature birth. Postpartum women who had children carriers of FAS and FAD had a higher frequency of urinary tract infection (65.2%) and moderate anemia (23.8%). This study estimated for the first time the prevalence of structural hemoglobinopathies in NB in Manaus, Amazonas, Brazil. Despite the small prevalence of, we highlight the importance of early diagnosis of hemoglobin variants, contributing to the improvement of the quality of life of PW and your NB, reinforce the need to implement educational and prevention programs to raise awareness among the population and in order to counsel parents regarding the probability of having a child with abnormal hemoglobins homozygous as HbSS or HbCC.

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Resumo Fundamento A anemia falciforme (AF) é uma doença hereditária cujas complicações cardiovasculares são a principal causa de morte, o mesmo sendo observado em outras hemoglobinopatias. A identificação precoce dessas alterações pode modificar favoravelmente o curso da doença. Objetivo Comparar a prevalência de complicações cardiovasculares entre indivíduos com AF e indivíduos com outras hemoglobinopatias. Métodos Seguindo recomendações do protocolo PRISMA, realizou-se revisão sistemática da literatura com buscas nas bases de dados PubMed/Medline, associadas à busca manual. Incluídos estudos que analisaram a prevalência das alterações cardiovasculares nas hemoglobinopatias (AF, traço falciforme, hemoglobinopatia SC, alfatalassemia e betatalassemia). A qualidade metodológica dos artigos foi realizada pela escala de Newcastle-Ottawa. Resultados Foram selecionados para análise quatro estudos, resultando em um tamanho amostral de 582 participantes: 289 portadores de AF, 133 possuem hemoglobinopatia SC, 40 com betatalassemia, 100 indivíduos saudáveis e nenhum com alfatalassemia ou traço falcêmico. Dilatação das câmaras cardíacas, hipertrofia ventricular esquerda e direita, hipertensão pulmonar, disfunção diastólica, insuficiência mitral e insuficiência tricúspide são mais prevalentes na AF do que nas demais hemoglobinopatias consideradas. A sobrecarga miocárdica de ferro é mais frequente na talassemia maior do que na AF. A função sistólica foi similar entre as hemoglobinopatias. Conclusão Verificou-se maior comprometimento cardiovascular nos indivíduos com AF do que naqueles com as demais hemoglobinopatias, reforçando a necessidade de acompanhamento cardiovascular regular e frequente nos pacientes falcêmicos.

Abstract Background Sickle cell anemia (SCA) is a hereditary disease whose cardiovascular complications are the main cause of death, the same being observed in other hemoglobinopathies. Early identification of these changes can favorably modify the course of the disease. Objective To compare the prevalence of cardiovascular complications between individuals with SCA and individuals with other hemoglobinopathies. Method Following the recommendations of the PRISMA protocol, a systematic literature review was carried out with searches in PubMed/Medline databases, associated with a manual search. Studies that analyzed the prevalence of cardiovascular alterations in hemoglobinopathies (SCA, sickle cell trait, SC hemoglobinopathy, alpha-thalassemia and beta-thalassemia) were included. The methodological quality of the articles was assessed using the Newcastle-Ottawa scale. Results Four studies were selected for analysis, resulting in a sample size of 582 participants: 289 with SCA, 133 with SC hemoglobinopathy, 40 with beta-thalassemia, 100 healthy individuals and none with alpha-thalassemia or sickle cell trait. Dilatation of the cardiac chambers, left and right ventricular hypertrophy, pulmonary hypertension, diastolic dysfunction, mitral regurgitation and tricuspid regurgitation are more prevalent in SCA than in the other hemoglobinopathies considered. Myocardial iron overload is more frequent in thalassemia major than in sickle cell anemia. Systolic function is similar between different hemoglobinopathies. Conclusion There is greater cardiovascular impairment in individuals with SCA than in those with other hemoglobinopathies, reinforcing the necessity for regular cardiovascular follow-up in sickle cell patients.

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

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

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INTRODUCTION: Sickle cell anemia (SCA) is a hematological genetic disorder caused by a mutation in the gene of the ß-globin. Pharmacological treatments will continue to be an important approach, including the strategy to induce fetal hemoglobin (HbF). AREAS COVERED: Here, we analyzed the articles described in the literature regarding the drug discovery of HbF inducers. The main approaches for such strategy will be discussed, highlighting those most promising. EXPERT OPINION: The comprehension of the mechanisms involved in the ß-globin regulation is the main key to design new drugs to induce HbF. Among the strategies, gamma-globin regulation by epigenetic enzymes seems to be a promising approach to be pursued, although the comprehension of the selectivity role for those new drugs is crucial to reduce adverse effects. The low druggability of transcription factors and their vital role in embryonic human development are critical points that should be taken in account for drug design. The guanylate cyclase and the NO/cGMP signaling pathway seem to be promising not only for HbF induction, but also for the protective effects in the cardiovascular system. The association of drugs acting through different mechanisms to induce HbF seems to be promising for the discovery of new drugs.

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

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

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