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.

Prevalência de traço falciforme em doadores de sangue da região Centro-Oeste do Estado de Minas Gerais / Prevalence of sickle cell trait in blood donors in the Midwest region of the State of Minas Gerais

Introdução: Apesar do traço falciforme ser considerado uma condição benigna, existem estudos mostrando que apresenta manifestações clínicas relevantes, o que torna importante a realização de estudos para conhecer sua prevalência. Objetivo: Estimar a prevalência de traço falciforme em doadores de sangue da região Centro-Oeste do estado de Minas Gerais (MG). Metodologia: As informações sobre a presença de HbS no sangue, etnia, gênero, escolaridade, idade, níveis de hemoglobina e procedência dos doadores de sangue foram consultadas no sistema Hemote Plus da Fundação Hemominas (FH). Resultados: A média de idade dos doadores de sangue da região Centro-Oeste de MG foi de 34,4±11,3 anos, 51,4% eram do sexo masculino, 52,8% se autodeclararam brancos, 53,3% possuíam até 2º grau completo e a média dos níveis de hemoglobina foi de 15,1±1,3 g/dL. A prevalência de traço falciforme foi de 2,2% nessa população. Entre os doadores portadores do traço falciforme houve maior frequência de autodeclarados pardos, seguidos de autodeclarados brancos (30,7%) e autodeclarados negros (26,5%), as faixas etárias de 21 a 30 anos (31,9%) e de 31 a 40 anos (30,7%) e o sexo feminino (53,9%) foram mais prevalentes e a média dos níveis de hemoglobina foi de 14,8±1,3 g/dL. Conclusão: A prevalência de traço falciforme encontrada em nosso estudo foi de 2,2%, o que se assemelha à encontrada na população brasileira e é discretamente menor que a do Estado de MG. Esses achados contribuem com os demais estudos de prevalência no Brasil.

Introduction: Although sickle cell trait is considered a benign condition, there are studies showing that it presents relevant clinical manifestations, which makes it important to carry out studies to know its prevalence. Objective: To estimate the prevalence of sickle cell trait in blood donors in the Midwest region of the state of Minas Gerais (MG). Methods: Information on the presence of HbS in the blood, ethnicity, gender, education, age, hemoglobin levels and origin of blood donors were consulted in the Hemote Plus system of the Hemominas Foundation (FH). Results: The mean age of blood donors in the Midwest region of MG was 34.4±11.3 years, 51.4% were male, 52.8% self-declared white, 53.3% had up to high school and the mean hemoglobin levels were 15.1±1.3g/dL. The prevalence of sickle cell trait was 2.2% in this population. Among the donors with sickle cell trait, there was a higher frequency of self-declared brown, followed by self-declared white (30.7%) and self-declared black (26.5%), aged 21 to 30 years (31.9%) and 31 to 40 years (30.7%) and females (53.9%) were more prevalent and the mean hemoglobin levels were 14.8±1.3 g/dL. Conclusion: The prevalence of sickle cell trait found in our study was 2.2%, which is similar to that found in the Brazilian population and is slightly lower than in the state of MG. These findings contribute to other prevalence studies in Brazil.

Guia para implementação de ações para Doença Falciforme nos municípios / Guide for the implementation of actions for Sickle Cell Disease in the municipalities

A doença falciforme (DF) é uma das doenças genéticas mais comuns no mundo. É uma doença do sangue, nos glóbulos vermelhos (células que transportam oxigênio e gás carbônico para todas a partes do corpo). Se manifesta de forma diferente em cada indivíduo, os principais sintomas são: dores intensas, anemia crônica, olhos amarelos e mucosas pálidas.

Perspectivas recientes del análisis morfológico automatizado en eritrocitos / Recent perspectives of the automated morphological analysis of erythrocytes

Introducción: La anemia drepanocítica es una anomalía genética hereditaria de la hemoglobina, que se caracteriza por la presencia de glóbulos rojos que pierden su forma redonda característica y adquieren forma de hoz. Aunque aún no tiene cura definitiva, se desarrollan varias acciones con el propósito de mejorar la calidad de vida y la atención médica a los pacientes. Objetivos: Conocer los aspectos referidos al análisis automatizado de formas en eritrocitos en los últimos años y proporcionar una visión en el caso de la drepanocitosis, que permita determinar las limitaciones actuales, principalmente para el empleo de herramientas automatizadas en el seguimiento clínico de pacientes con esta enfermedad. Método: Se realizó la revisión sistemática de la literatura de los años 2018, 2019 y dos aportes del 2020, en tres bases de datos electrónicas de amplio alcance: IEEEXplore, Google Scholar y SCOPUS. Los documentos se analizaron teniendo en cuenta preguntas específicas para obtener criterios generales sobre la situación de interés. Conclusiones: Los análisis realizados revelan un volumen creciente de investigaciones en este campo, con resultados de varios países. El examen detallado de las investigaciones permitió identificar problemas referidos a las métricas de evaluación empleadas, a los algoritmos para el análisis y procesamiento de imágenes, empleo del criterio médico, bases de datos empleadas y, herramientas para el análisis automático de formas de eritrocitos(AU)

Introduction: Sickle-cell anemia is a genetic hereditary anomaly of hemoglobin characterized by red blood cells that lose their normal round morphology and acquire a sickle shape. Although no cure is so far available, several actions are in progress to improve the quality of life and medical care of patients. Objective: Become acquainted with aspects related to the automated morphological analysis of erythrocytes in recent years, particularly in the context of sickle-cell anemia, allowing to determine the current limitations, mainly in the use of automated tools for the clinical follow-up of sickle-cell anemia patients. Methods: A systematic review was conducted of the literature published in the years 2018, 2019, and two contributions from 2020, in three broad scope electronic databases: IEEEXplore, Google Scholar and SCOPUS. The documents were analyzed on the basis of specific questions to obtain general criteria about the situation of interest. Conclusions: The analysis conducted revealed a growing volume of research in this field, with results in several countries. Detailed examination of the studies led to identification of problems related to the evaluation metrics used, the algorithms for the analysis and processing of images, the use of medical criteria, the databases used and tools for the automated morphological analysis of erythrocytes(AU)

Fatal sickling-associated microvascular occlusive crisis in a young with sickle cell trait

Sickle cell trait (SCT), a heterozygous state characterized by hemoglobin AS, occurs commonly in sub-Saharan Africa, South America, Central America, India, and the Mediterranean countries. SCT is compatible with a normal lifespan and is not commonly regarded as a cause of morbid illness or death compared to its homozygous counterpart. We describe a case of fatal sickling-associated microvascular crisis, identified on post mortem evaluation in a previously undiagnosed 21-year-old military recruit with sickle cell trait. The individual presented with repeated syncope episodes during his training and was autopsied in the pursuit of cardiac anomalies and heat syncope. During the terminal episode, he collapsed and died of severe metabolic complications as he struggled to complete an organized run during routine training activities. To our knowledge, this is the first report of fatal sickling-associated crisis in a military recruit with sickle cell trait from India. This case serves to remind all armed forces and sports physicians of the importance of screening a recruit who is unable to complete exertional physical training for the presence of sickle cell trait.

Craniofacial geometric morphometrics in the identification of patients with sickle cell anemia and sickle cell trait

ABSTRACT Objective: The aims of this study were to identify the main characteristics regarding the shape and size of the craniofacial region in patients with sickle cell anemia (SCA) and sickle cell trait (SCT) and in unaffected patients using geometric morphometrics and to check the efficiency of this method. Material and Methods: A cross-sectional analytical study of 45 patients (15 in each group) was performed. Lateral radiographs of the skull were used for the analysis. Seventeen landmarks and semilandmarks were placed for the measurements. The Pocrustes analysis of variance (ANOVA), regression analysis, multivariate analysis of variance, canonical variate analysis, Mahalanobis and Procrustes distances and unweighted pair group method with arithmetic mean (UPGMA) clustering were performed. Allometric effects and sex characteristics were not statistically significant (p> 0.05). Results: There were, however, significant differences (p< 0.05) in craniofacial shape among SCA, SCT and unaffected individuals. Those with SCA showed variations in the shape of the external auditory meatus and at the base of the occipital bone, in addition to the mandibular setback and upper incisor inclination, with a tendency towards prognathism. The individuals with SCT exhibited a similar craniofacial shape to those with SCA, but with slighter variations. Moreover, those with SCT were statistically closer in resemblance to unaffected individuals, given that SCT is not regarded as a disease. Conclusion: This demonstrates the efficiency of geometric morphometrics in the categorization of the assessed groups.

Hematúria levando ao diagnóstico de duas condições singulares na prática clínica - síndrome de quebra-nozes e traço falcêmico: um relato de caso / Hematuria leading to the diagnosis of two singular conditions in clinical practice - renal nutcracker syndrome and sickle cell trait: a case report

RESUMO: A hematúria é definida como o achado de mais que duas hemácias por campo de aumento na análise microscópica de urina coletada por jato médio. Na sua forma macroscópica, caracteriza-se por sua coloração típica (avermelhada ou marrom), acompanhada pela presença de mais de 106 hemácias/ml na sedimentoscopia. É uma condição que necessita de investigação da causa e apresenta-se com prevalência incerta e definição às vezes imprecisa, mas com vasto diagnóstico diferencial. Dentre as possíveis causas, encontramos a presença do traço falciforme, aparentemente subdiagnosticado, e a síndrome de quebra-nozes, possibilidade mais rara. No caso relatado a seguir, foram diagnosticadas simultaneamente as duas causas acima citadas, descobertas após a investigação do primeiro episódio de hematúria macroscópica em uma mulher jovem previamente hígida. Com o objetivo de chamar a atenção para a concomitância de duas possíveis e incomuns causas de hematúria numa mesma paciente, relatamos o caso a seguir. (AU)

ABSTRACT: Hematuria is defined as the finding more than two red blood cells per field of analysis in the microscopic analysis of the urine collected by the medium jet. In its macroscopic form, it is characterized by its typical coloration (reddish or brown), accompanied by the presence of more than 106 red cells/ml in urinary sediment. It is a condition that needs investigation and it presents itself sometimes with imprecise definition, but with vast differential diagnosis. Among the possible etiologies, there is the presence of the sickle cell trait, apparently underdiagnosed, and the renal nutcracker syndrome, a rarer possibility. In the case reported below, these two findings were diagnosed simultaneously, following an investigation of the first episode of macroscopic hematuria in a young and previously healthy woman. In order to draw attention to the simultaneous presence of two unusual causes of hematuria in the same patient, we report the following case. (AU)

Epidemiología de la drepanocitosis en países de América Latina y del Caribe / Epidemiology of sickle cell disease in Latin-American and Caribbean Countries

Introducción: La drepanocitosis es la anemia hemolítica congénita más frecuente y representa un problema de salud a nivel mundial. La enfermedad tuvo su origen en el África subsahariana, la cuenca del Mediterráneo y algunas regiones del Medio Oriente y la India. El comercio de esclavos entre 1650-1830 y la dinámica migratoria humana han afectado la distribución de la enfermedad. Objetivo: Describir la epidemiología y estado actual de la drepanocitosis en América Latina. Método: Se realizó una revisión de la literatura a través de los sitios web PubMed, SciElo y el motor de búsqueda Google Académico de artículos publicados en los últimos 10 años. Se utilizaron como términos de búsqueda: drepanocitosis, epidemiología, frecuencia, screening pre- y posnatal, Latinoamérica. Se hizo un análisis y resumen de la bibliografía revisada. Análisis y síntesis de la información: Las hemoglobinopatías, en particular la drepanocitosis, cobran cada vez mayor importancia a nivel global por su alta frecuencia. El diagnóstico temprano, el uso de penicilina profiláctica en los primeros años de la vida y un mejor conocimiento de los factores genéticos y no genéticos que influyen en la gravedad fenotípica son todavía limitados. Uno de los problemas más críticos en el control y manejo de la esta enfermedad es su extraordinaria variabilidad fenotípica. Conclusiones: Con una atención integral y tratamiento no muy costoso estos pacientes pueden alcanzar la edad adulta con una calidad de vida aceptable, pero desafortunadamente no son tratadas adecuadamente. Sería recomendable que cada país cuente con centros de atención primaria y especializados donde se puedan atender a los pacientes(AU)

Introduction: Sickle cell disease is the most common congenital hemolytic anemia and is a worldwide health concern. The disease originated in Sub-Saharan Africa, the Mediterranean basin, and some regions of the Middle East and India. Slave trade between 1650 and 1830 and human migratory dynamics have affected the distribution of the disease. Objective: To describe the epidemiology and current status of sickle cell disease in Latin America. Methods: A literature review was carried out through the PubMed and SciElo websites, as well as the Google Scholar search engine, of articles published in the last ten years. The search terms were drepanocitosis [sickle cell disease], epidemiología [epidemiology], frecuencia [frequency], screening prenatal y postnatal [pre- and post-natal screening], Latinoamérica [Latin America]. An analysis and summary of the revised bibliography was made. Information analysis and synthesis: Hemoglobinopathies, particularly sickle cell disease, are becoming increasingly important globally, due to their high frequency of appearance. Early diagnosis, the use of prophylactic penicillin in the first years of life, and better understanding of the genetic and non-genetic factors that influence phenotypic severity are still limited. One of the most critical problems in management and control of this disease is its extraordinary phenotypic variability. Conclusions: With comprehensive care and inexpensive treatment, these patients can reach adulthood with acceptable quality of life, but unfortunately they are not treated properly. It would be advisable for each country to have primary and specialized care centers where patients can be cared for(AU)

El dolor en la drepanocitosis / Pain in sickle cell disease

Introducción: La drepanocitosis incluye un grupo de desórdenes genéticamente heredados en los que a baja saturación de oxígeno ocurre la agregación de polímeros rígidos de hemoglobina S desoxigenada. El dolor es la principal característica clínica de la enfermedad drepanocítica, constituye la primera causa de hospitalización; es básicamente de tipo nociceptivo. Los pacientes con drepanocitosis pueden presentar varios tipos de dolor en dependencia de las estructuras lesionadas, el de tipo músculo-esquelético es el más frecuente. Objetivo: Analizar las principales modalidades terapéuticas para el manejo del dolor en la drepanocitosis. Métodos: Se realizó una revisión de la literatura, en inglés y español, a través del sitio web PubMed y el motor de búsqueda Google académico de artículos publicados en los últimos 5 años. Se hizo un análisis y resumen de la bibliografía revisada. Análisis y síntesis de la información: Actualmente existen varias opciones de tratamiento. La base del manejo del dolor es el reconocimiento y la evaluación de la gravedad, ya que de esta dependerá el tratamiento analgésico. Una vez instaurado el dolor, el manejo inicial debe enfocarse en proveer control rápido, garantizar las dosis terapéuticas de los fármacos y evitar la aparición de complicaciones. Conclusión: Se debe mantener un adecuado tratamiento y seguimiento de los pacientes con dolor en la drepanocitosis, pues esto permitirá disminuir en lo posible las complicaciones que pueden ocasionar la enfermedad en los pacientes desde el punto de vista orgánico y psicológico(AU)

Introduction: Sickle cell disease includes a group of genetically inherited disorders in which, at low oxygen saturation, aggregation of rigid polymers of deoxygenated hemoglobin S occurs. Pain is the main clinical characteristic of sickle cell disease. It is the first cause of hospitalization. It is basically of nociceptive type. Patients with sickle cell disease can present various types of pain depending on the injured structures; the musculoskeletal type is the most frequent. Objective: To analyze the main therapeutic modalities for pain management in sickle cell disease. Methods: A literature review was carried out, in English and in Spanish, through the PubMed website and the Google Scholar search engine, of articles published in the last five years. Analysis and summary of the revised bibliography was made. Information analysis and synthesis: Currently, there are several treatment options. The basis for pain management is the recognition and evaluation of severity, since analgesic treatment will depend on this. Once pain is established, initial management should focus on providing rapid control, guaranteeing therapeutic doses of drugs, and avoiding the onset of complications. Conclusion: Adequate treatment and follow-up of patients with pain in sickle cell disease should be maintained, as this will reduce, as much as possible, the complications that the disease can cause in patients from an organic and psychological point of view(AU)

Spatial distribution of newborns with sickle cell trait in sergipe, brazil / Distribuição espacial de recém-nascidos com traço falciforme em sergipe

ABSTRACT Objective: To use the spatial distribution of the sickle cell trait (SCT) to analyze the frequency of hemoglobin S (HbS) carriers in Sergipe. Methods: The sample consisted of all individuals born in Sergipe from October 2011 to October 2012 who underwent neonatal screening in the public health system. Tests were carried out in basic health units and forwarded to the University Hospital laboratory, where they were analyzed. We used spatial autocorrelation (Moran's index) to assess the spatial distribution of heterozygous individuals with hemoglobinopathies. Results: Among 32,906 newborns, 1,202 showed other types of hemoglobin besides Hemoglobin A. We found a positive correlation between the percentage of black and multiracial people and the incidence of SCT. Most SCT cases occurred in the cities of Aracaju (n=273; 22.7%), Nossa Senhora do Socorro (n=102; 8.4%), São Cristóvão (n=58; 4.8%), Itabaiana (n=39; 4.2%), Lagarto (n=37; 4.01%), and Estância (n=46; 4.9%). Conclusions: The spatial distribution analysis identified regions in the state with a high frequency of HbS carriers. This information is important health care planning. This method can be applied to detect other places that need health units to guide and care for sickle cell disease patients and their families.

RESUMO Objetivo: Basear-se na distribuição espacial do traço falciforme (TF) para analisar a frequência dos portadores da hemoglobina S (HbS) em Sergipe. Métodos: A amostra foi constituída por todos os indivíduos nascidos em Sergipe, no período de outubro de 2011 a outubro de 2012, submetidos à triagem neonatal pelo Sistema Único de Saúde, ano de início da triagem universal no Estado. Os testes foram realizados em unidades básicas de saúde e encaminhados para o laboratório do Hospital Universitário, onde foram analisados. A análise da distribuição espacial dos indivíduos heterozigotos para hemoglobinopatias foi realizada por autocorrelação espacial (índice de Moran). Resultados: Dentre os 32.906 recém-nascidos estudados, 1.202 apresentaram outras hemoglobinas além da Hemoglobina A. Houve correlação positiva entre a porcentagem de negros e mestiços e a incidência de TF. A maioria dos casos foi encontrada nos municípios de Aracaju (n=273; 22,7%), Nossa Senhora do Socorro (n=102; 8,4%), São Cristóvão (n=58; 4,8%), Itabaiana (n=39; 4,2%), Lagarto (n=37; 4,01%) e Estância (n=46; 4,9%). Conclusões: Na análise de distribuição espacial por autocorrelação, identificaram-se regiões no Estado com maior frequência de HbS, o que é de extrema importância para o planejamento do sistema de saúde, podendo a mesma metodologia ser aplicada para identificação de outros locais com maior necessidade de centros para cuidados e orientações a portadores de doença falciforme e seus familiares.

Bone marrow invasion by aspergillus specie in a sickle cell trait patient with invasive aspergillosis: a fatal case in association with disseminated intravascular coagulation

Background: Invasive aspergillosis has been predominantly associated with pulmonary infection, particularly amongst immunocompromised individuals. Extrapulmonary infections with Aspergillus specie have been reported rarely irrespective of immune status. Risk factors for invasive aspergillosis include prolonged and severe neutropenia, haematopoietic stem cell and solid organ transplantation, advanced AIDS, and chronic granulomatous disease. The most frequently involved specie is Aspergillus fumigatus that constitutes over 90% of cases, followed by Aspergillus flavus, usually associated with a primary skin infection. Haematogenous spread to the bone causing osteomyelitis is the commonest form of disseminated aspergillosis and a surprisingly high proportion of these patients have no immunosuppression. We present a rare case of bone marrow invasion by Aspergillusspp. in a 3-year-old patient with sickle cell trait and chronic Aspergillosis. Case report: A 3-year-old patient with sickle cell trait was brought to the paediatric unit with recurrent diarrhoea, abdominal distention, weight loss and persistent cough. The child was severely wasted with generalised peripheral lymphadenopathy. She had marked respiratory distress and hepatosplenomegaly but no demonstrable ascites. Haematologic examination revealed leukaemoid reaction (leukocyte count of 44.0 x 109/L) with monocytosis (10%) and thrombocytopenia (platelet count of 97,000/mm3); no blast cells were seen on blood film. The bone marrow was hypercellular with a myeloid/erythroid ratio of 20:1, consistent with infection. Bone Marrow culture yielded Aspergillus spp. and other results of sepsis work up were negative. Conclusion: Cases of extrapulmonary invasive aspergillosis have been reported rarely in both immunocompetent and immunocompromised patients. Haematogenous spread to the bone is the commonest form of disseminated disease

Prevalência de hemoglobinopatias na população adulta brasileira: Pesquisa Nacional de Saúde 2014-2015 / Prevalence of hemoglobinopathies in the Brazilian adult population: National Health Survey 2014-2015

RESUMO: Objetivo: Descrever a prevalência das hemoglobinopatias da população adulta brasileira, segundo exames laboratoriais da Pesquisa Nacional de Saúde. Métodos: Estudo descritivo realizado com os dados laboratoriais da Pesquisa Nacional de Saúde coletados entre os anos de 2014 e 2015. A pesquisa de hemoglobinopatias foi feita pelo método da cromatografia líquida de alto desempenho. Os resultados dos exames individuais foram interpretados fornecendo os parâmetros normais, homozigotos ou heterozigotos para hemoglobina S, C e D, além de outras eventuais hemoglobinopatias. Foram estimadas prevalências das hemoglobinopatias segundo sexo, cor da pele, região, idade e escolaridade. Resultados: Houve presença de hemoglobinopatias em 3,7% da população. As principais foram o traço falciforme (2,49%), a talassemia menor (0,30%) e a suspeita de talassemia maior (0,80%). Em relação ao traço falciforme e à suspeita de talassemia maior, houve diferença estatisticamente significativa para a variável cor da pele (p < 0,05). As prevalências encontradas para traço falciforme segundo cor de pele foram: preta (4,1%), parda (3,6%), branca (1,2%) e outras (1,7%). Conclusão: As hemoglobinopatias mais prevalentes foram o traço falciforme e a talassemia menor, predominando entre pretos e pardos. O estudo ajuda na identificação das hemoglobinopatias e no aconselhamento genético na preconcepção.

ABSTRACT: Objective: To describe the prevalence of hemoglobinopathies in the Brazilian adult population, according to laboratory tests from the National Health Survey. Methods: A descriptive study was carried out with National Health Survey laboratory data collected between 2014 and 2015. The hemoglobinopathies test was performed using the High Performance Liquid Chromatography method. The results of the individual tests were interpreted as providing normal, homozygous or heterozygous results for S, C and D hemoglobin, in addition to other possible hemoglobinopathies. Prevalence of hemoglobinopathies according to gender, skin color, region, age and schooling was estimated. Results: Hemoglobinopathies were present in 3.7% of the population. The main ones were the sickle cell trait (2.49%), thalassemia minor (0.30%) and suspected thalassemia major (0.80%). In relation to the sickle cell trait and suspected thalassemia major, there was a statistically significant difference for the skin color variable (p<0.05). The prevalences found for sickle cell trait according to skin color was: 4.1% among dark-skinned blacks, 3.6% among light-skinned blacks, 1.2% among whites, and 1.7% among others. Conclusion: The most prevalent hemoglobinopathies were the sickle cell trait and minor thalassemia, and were predominate among light- and dark-skinned black people. The study helps in identifying hemoglobinopathies and in genetic counseling in pre-conception.

Microcytosis in children and adolescents with the sickle cell trait in Basra, Iraq

BACKGROUND: Microcytic anemia, the most common form of anemia in children and adolescents, is a heterogeneous group of diseases that is acquired or inherited. We assessed the frequency and causes of microcytosis in children and adolescents with the sickle cell trait (SCT). METHODS: This descriptive study included 95 subjects (49 males and 46 females) with SCT who attended Basra Center for Hereditary Blood Diseases for evaluation. Investigations included complete blood count, high performance liquid chromatography, capillary electrophoresis, and measurement of serum ferritin and transferrin levels. RESULTS: SCT subjects had a low hemoglobin (Hb) concentration (9.79±1.75 g/dL), low mean corpuscular volume (MCV, 67.43±9.22), low mean corpuscular Hb (21.15±3.64), and a normal red cell distribution width (RDW, 14.00±2.30). Among 95 SCT subjects, 81 (85.26%) had microcytosis, 12 (12.63%) had normal MCV, and 2 (2.11%) exhibited macrocytosis. Sixty-three (77.78%) SCT subjects with microcytosis were iron deficient, and 18 (22.22%) had normal iron levels. The mean serum ferritin and HbA2 levels were significantly lower, while the RDW, sickle Hb, and serum transferrin levels were significantly higher in patients with microcytosis and iron deficiency compared to non-iron deficient subjects (P0.05). CONCLUSION: Despite the frequent occurrence of iron deficiency in SCT subjects, co-inheritance of alpha-thalassemia seemed to be the cause of low MCV in non-iron deficient individuals with microcytosis. Genetic analysis is required to understand the genetic basis of this phenomenon.

Pitfalls of Measuring Hemoglobin A1c in a Patient with Sickle Cell Trait in South Korea / 가정의학회지

No abstract available.

Outcome of pregnancy in Saudi women with sickle cell disease attending the tertiary care university hospital in eastern province of Saudi Arabia

Sickle cell disease (SCD) is a chronic genetic hematological disorder with multiorgan involvement and is associated with complications during the pregnancy. This is a well-known disorder in Saudi Arabia, but no study has reported its outcomes in pregnant Saudi females of the Eastern region. This study was carried out to compare the fetomaternal outcome in patients with SCD with those without SCD. This was a retrospective cohort study done in the Eastern Province of Saudi Arabia in a tertiary care, teaching hospital, by retrieving the data through the code ICD-9 for SCD, the control group was also selected with comparable characteristics. A total of 302 SCD pregnant patients were included for comparison with 600 pregnant women without SCD as control, during the period of Jan 1, 2008 to December 31, 2018. After the data retrieval, percentages of complications were calculated between the study and control groups. Fischer's exact test and t-test were used for statistical analysis by using SPSS version 22. The results showed higher complication rates in pregnancies of patients with SCD. Hypertensive disorders (13.3%), abruptio placenta (1.6%), intrauterine growth restriction (19.2%), thromboembolism (6.6%) and stroke (2.6%) were all higher in SCD as compared to the control group .The complications of SCD itself including anemia (89.4%), acute chest syndrome (13.2%) and sickle cell crisis (39.2%) were also increased during the pregnancy. Both still birth (3.3%) and neonatal intensive care unit admission (1.6%) were also higher in SCD. SCD during the pregnancy is a high-risk situation and can lead to many fetomaternal complications; however, preconceptional counselling, early booking, a careful monitoring during pregnancy and multidisciplinary management approach can prevent potential adverse outcome in this regard

Cistatina C: marcador de laboratorio precoz de enfermedad renal en pacientes con depranocitosis / Cystatin C: early laboratory marker of renal disease In sickle cell disease

La enfermedad renal en el paciente con drepanocitosis es una consecuencia de su complejo proceso fisiopatológico, por lo que es importante disponer de un grupo de parámetros de laboratorio que, junto a la evaluación clínica, permita determinar de forma precoz la presencia de esta complicación. La cistatina C ha demostrado ser uno de los parámetros que con mayor exactitud aporta evidencia temprana de daño renal en este grupo de pacientes y al mismo tiempo constituye un posible indicador de pronóstico de gran importancia(AU)

Renal disease in patients with sickle cell disease is a consequence of its complex pathophysiological process, so it is important to have a set of laboratory parameters that, together with the clinical evaluation, allow the early detection of this complication. Cystatin C has been shown to be one of the parameters that provides, with greater accuracy, early evidence of kidney damage in this group of patients and at the same time constitutes a possible indicator of prognosis of great importance(AU)

Prevalência de hemoglobinas variantes em comunidades quilombolas no estado do Piauí, Brasil / Prevalence of hemoglobin variants in quilombola communities in the state of Piauí, Brazil

Resumo As hemoglobinas variantes (Hb) decorrem de mutações nos genes da globina. As variantes estruturais mais frequentes são HbS, HbC, HbD e HbE. O gene da hemoglobina S tem frequência elevada na América, enquanto que no Brasil é maior no Sudeste e Nordeste. O presente artigo tem por objetivo investigar a presença de hemoglobinas variantes em 15 comunidades quilombolas do estado do Piauí. Foram analisadas 1.239 amostras, nas quais as hemoglobinas foram triadas pela cromatografia líquida de alta eficiência (HPLC). Aplicou-se questionário referente a gênero, etnia e consanguinidade das populações. Das 1.239 amostras, 5,4% apresentaram o traço falciforme AS, as doenças falciformes SS e SC apareceram em 0,8% do total, nas hemoglobinas AC, AD e DD. Das 1.069 pessoas negras, 84 apresentaram alteração das hemoglobinas; destas, 34 eram do sexo masculino e 53 do feminino. Ocorreu a presença de 13 casamentos consanguíneos dentre as 84 alterações das hemoglobinas. O estudo das hemoglobinas variantes em 15 comunidades remanescentes de quilombos do Piauí contribui para sua educação em saúde frente aos aspectos da herança genética destas proteínas, relevante questão de saúde pública, proporcionando subsídios para a implantação do Programa Estadual da Doença Falciforme do Piauí.

Abstract Hemoglobin variants (Hb) result from mutations in globin genes, with amino acid substitution in the polypeptide chain. Among the most common structural variants are HbS, HbC, HbD and HbE. The S hemoglobin gene is a high frequency gene across America and Brazil, where it is more frequent in the Southeast and Northeast. The scope of this article is to investigate the presence of hemoglobin variants in 15 quilombos (fugitive slave communities) of Piaui. The sample was of 1,239 people and hemoglobin was screened by high-performance liquid chromatography (HPLC). A questionnaire was applied related to gender, ethnicity and consanguinity. Of the samples analyzed, 5.4% had AS sickle cell trait, while SS and SC sickle cell anemia showed a rate of 0.8%, with AC, AD and DD hemoglobin. Of the 1,069 Afro-descendants, 84 revealed hemoglobin abnormalities, 34 being male 53 being female. There were 13 consanguineous marriages among the 84 hemoglobin alterations. The study of hemoglobin variants in 15 former quilombo communities in the state of Piaui contributes to their education in health in the aspects of genetic inheritance of hemoglobin, a relevant public health issue, providing input for the implementation of the State Program of Sickle Cell Disease of Piaui.