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ABSTRACT Objective: To compare reference intervals (RI) of blood counts of Brazilian adults with and without sickle cell trait (SCT). Methods: Cross-sectional study, based on the National Health Survey, 2014-2015, composed of 8,952 individuals. The sample of patients with SCT was composed of 234 adults. The RIs of adults with and without SCT were compared in the study "Reference values for laboratory tests of blood count in the Brazilian adult population: National Health Survey", by Rosenfeld et al. (2019). The parametric method and the Student's t test were used for comparison (p≤0.05). Results: There were statistically significant differences between RIs of adults with and without SCT as far as sex is concerned for hemoglobin, MCV, MCH, MCHC, white blood cells, absolute lymphocytes, mean platelet volume and RDW; At all ages, for white blood cells and RDW in men and for MCV, MCH, MCHC, mean platelet volume and RDW in women; Between 18 to 59 years, for MCH, MCV, MCHC, neutrophils, lymphocytes and platelets in men and in women for lymphocytes, red blood cells, white blood cells, neutrophils, eosinophils, monocytes and platelets; From 60 years old on, for hemoglobin and hematocrit in men and in women for hematocrit, white blood cells, neutrophils and platelets; In white, black and brown people for white blood cells, neutrophils and platelets (p<0.05). Conclusion: Brazilian adults with SCT had lower counts of hemoglobin, MCV, MCH, MCHC, white blood cells and higher RDW than without SCT. The results show the importance of genetic counseling and further research to support the proper management of this condition in Brazil.
RESUMO Objetivo: Comparar intervalos de referência (IR) de hemograma de adultos brasileiros com e sem traço falciforme (HbAS). Métodos: Estudo transversal, com a base de dados da Pesquisa Nacional de Saúde, entre 2014-2015, composta por 8.952 indivíduos; 234 adultos constituíram a amostra com HbAS. Comparou-se IR de adultos com e sem HbAS do estudo "Valores de referência para exames laboratoriais de hemograma da população adulta brasileira: Pesquisa Nacional de Saúde", de Rosenlfed e colaboradores (2019). Utilizaram-se o método paramétrico para estabelecer os IR e o teste t de Student para comparação (p≤0,05). Resultados: Houve diferenças estatisticamente significativas entre IR de adultos com e sem HbAS nos homens e mulheres para hemoglobina, VCM, HCM, CHCM, glóbulos brancos, linfócitos absolutos, volume plaquetário médio e RDW; em todas as idades para glóbulos brancos e RDW nos homens e para VCM, HCM, CHCM, volume plaquetário médio e RDW nas mulheres; entre 18 a 59 anos para HCM, VCM, CHCM, neutrófilos, linfócitos e plaquetas nos homens e nas mulheres para linfócitos, glóbulos vermelhos, glóbulos brancos, neutrófilos, eosinófilos, monócitos e plaquetas; a partir de 60 anos para hemoglobina e hematócrito nos homens e nas mulheres para hematócrito, glóbulos brancos, neutrófilos e plaquetas; nas raças branca, preta e parda para glóbulos brancos, neutrófilos e plaquetas (p<0,05). Conclusão: Adultos brasileiros com HbAS tiveram menores contagens de hemoglobina, VCM, HCM, CHCM, glóbulos brancos e maiores de RDW que sem HbAS. Os resultados mostram a importância do aconselhamento genético e de pesquisas para subsidiar o manejo adequado desta condição no Brasil.
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Avascular necrosis of bone is a severe complication of sickle cell disease (SCD) and Management of these problems is often difficult because of the diagnostic imprecision of most laboratory and imaging investigations and because of the lack of evidence for most surgical procedures in sickle cell disease. Its treatment is not standardized. The objective in this case is to determine the impact of core decompression and PRP infusion in the management of Avascular necrosis of hip. In this case, a young Indian male with a known history of sickle cell disease presented to the clinic with severe bilateral hip pain. The pain had lasted for several months and had not improved with anti- inflammatory medication and starting on alandronate. There was severe pain with internal and external rotation of the hip. MRI of the femur showed stage 2 or 3 avascular necrosis of the femoral head, while X-rays of the femur were unremarkable. Patient managed conservatively by Non weight- bearing for several weeks and oral medication shortly thereafter, the patient underwent core decompression of the bilateral femoral head as well as continuing on Alendronate, a bisphosphonate. The patient improved temporarily but regressed shortly thereafter. His avascular necrosis worsened radiographically over the next several months. At this point, the only other option would be to do a total hip arthroplasty, but the patient may need several more throughout his lifetime due to the lifespan of the artificial replacement. There have only been scarce reports of avascular necrosis in patients with sickle cell trait. This manuscript presents such a case and includes the trials and tribulations associated with its management.
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Background: The orphan status of sickle cell invites many researchers toward drug development in the past decade. A substantial number of clinical trials either understudies or in the planning stage focused on sickle cell disease. Sickle cell traits are often considered asymptomatic and the silent condition is associated with diverse complications. Objective: To clinically evaluate the safety and effectiveness of T-AYU-HM Premium Tablets (300mg) in sickle cell anemia patients: an observational retrospective study Methodology: This is a single-arm case-control retrospective study of sickle cell trait patients admitted to Dhanvantari Clinic from 2018 to 2020. Patients' vital and clinical information based on inclusion and exclusion criteria were collected and analyzed using SPSS software. Result: A total of 100 patients with sickle cell traits were included in the study. The treatment exhibited significant improvement was seen in (P<0.05) in hemoglobin and red blood corpuscles. There wasn’t any untoward response either from the patient or from laboratory parameters reported indicating no adverse effects were seen. There was an absolute improvement in overall health as a reduction of no of time hospitalization (0) and blood transfusion (0) in sickle cell trait patients. There was a significant improvement in minor and major clinical parameters of sickle cell trait patients. Conclusion: The effect of T-AYU-HM Premium treatment in sickle cell trait patients suggests it is safe and effective. There was no adverse effect observed in the observational study. During entire study period, no single blood transfusion or hospitalization required. The significant improvement in the rate and frequency of painful crises indicates an improvement in pain-related quality of life in patients. This treatment of T-AYU-HM Premium was safe, cost-effective, and exhibit therapeutic potential in the management of sickle cell trait patients
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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.
Subject(s)
Humans , Male , Female , Blood Donors , Hemoglobin, Sickle , Anemia, Sickle Cell , Sickle Cell Trait , Prevalence , Cross-Sectional Studies , Retrospective Studies , ErythrocytesABSTRACT
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.
Subject(s)
Humans , Adult , Sickle Cell Trait , Blood Donors , PrevalenceABSTRACT
ABSTRACT Objective To evaluate the incidence of variant hemoglobins of newborn samples from the Neonatal Screening Center in the state of Mato Grosso do Sul, Brazil, and to analyze the distribution and spatial autocorrelation of newborns with sickle cell trait. Methods Samples from 35,858 newborns screened by the Neonatal Screening Center. The samples with inconclusive diagnosis were submitted to electrophoretic, chromatographic, cytological and molecular analyses. The spatial distribution analysis of newborns with sickle cell trait was performed by spatial autocorrelation. Results A total of 919 newborns showed an abnormal hemoglobin profile; in that, ten genotypes had significant clinical impacts identified. Among the asymptomatic newborns, the sickle cell trait was the most frequent (incidence of 1.885 cases/100 newborns). The highest incidence rates were registered in the municipalities of Terenos, Figueirão, Corguinho and Selvíria. There was positive spatial autocorrelation between the proportion of declared individuals of black race/color and the incidence of newborns with sickle cell trait. Conclusion The early diagnosis by neonatal screening and laboratory tests was very important to identify abnormal hemoglobin profiles and guide the spatial autocorrelation analysis of sickle cell trait newborns in Mato Grosso do Sul, serving as a support to anticipate health measures aimed to discuss efficient therapeutic behaviors and effective planning of municipalities with the greatest need for care, monitoring and orientations for affected families.
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ABSTRACT Objective: to analyze the understanding of mothers about sickle cell disease and/or trait of the family from a diagnosed child. Methods: this is a qualitative study, using a semi-structured interview with 23 mothers, at a sickle cell disease outpatient clinic of a public institution, from October to December 2017. Analysis was thematic. Results: all participants had sickle cell trait as well as the parents of their children. Twenty children were diagnosed with sickle cell disease by Heel Prick Test, and three, after hospitalization due to the disease. Most did not know how to report the presence of the trait or disease in relatives other than nuclear. Final considerations: diagnosis cannot be restricted to the result of neonatal screening, requiring that preventive information on sickle cell crises be reinforced. It is recommended to search for other affected relatives to learn about their genetic condition, reflecting on their reproductive decisions.
RESUMEN Objetivo: analizar el entendimiento de las madres sobre células y/o anemia falciformes de la familia del niño diagnosticado. Métodos: se trata de un estudio cualitativo, mediante entrevista semiestructurada a 23 madres, en el ambulatorio de anemia falciforme de una institución pública, de octubre a diciembre de 2017. El análisis fue temático. Resultados: todos los participantes tenían células falciformes, así como los padres de sus hijos. Veinte niños fueron diagnosticados con anemia de células falciformes mediante la prueba de punción del talón y tres, después de la hospitalización debido a la enfermedad. La mayoría no sabía cómo informar la presencia de células o anemia en miembros de la familia distintos del nuclear. Consideraciones finales: el diagnóstico no puede restringirse al resultado del cribado neonatal, requiriendo que se refuerce la información preventiva sobre las crisis drepanocíticas. Se recomienda buscar a otros familiares afectados para conocer su condición genética, reflexionando sobre sus decisiones reproductivas.
RESUMO Objetivo: analisar o entendimento de mães acerca da condição do traço e/ou doença falciforme da família a partir da criança diagnosticada. Métodos: trata-se de um estudo qualitativo, sendo utilizada entrevista semiestruturada, com 23 mães, no ambulatório de doença falciforme de uma instituição pública, no período de outubro a dezembro de 2017. A análise foi temática. Resultados: todos os participantes tinham traço falciforme, bem como os pais dos seus filhos. Vinte crianças foram diagnosticadas com doença falciforme pelo teste do pezinho, e três, após hospitalização decorrente da doença. A maioria não sabia informar a presença do traço ou doença em outros membros da família que não a nuclear. Considerações finais: o diagnóstico não pode ficar restrito ao resultado da triagem neonatal, necessitando que as informações preventivas de crises falcêmicas sejam reforçadas. Recomenda-se a busca de outros membros da família afetados para conhecimento da sua condição genética, refletindo sobre suas decisões reprodutivas.
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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.
Subject(s)
Humans , Male , Adult , Sickle Cell Trait/complications , Autopsy , Physical ExertionABSTRACT
OBJETIVO: Alertar al personal de la salud sobre la importancia de la detección temprana de las he- moglobinopatías, dado que es el trastorno monogénico recesivo más frecuente. Pacientes y MÉTODO: Estudio retrospectivo del resultado de eletroforesis capilar (CE) de 152 pacientes entre 0 y 18 años que durante el año 2017 fueron evaluados por sospecha de hemoglobinopatías en un Hospital Universitario de Colombia. La información se tomó de los registros médicos y del Laboratorio de Hematología y Hemostasia, asegurando la privacidad de los datos y aprobado por el Comité de Ética local. RESULTADOS: De 152 pacientes, 48,6% tenía entre 7 y 18 años. La frecuencia de hemoglobinopatías fue de 42,7%. La variante más frecuente fue el rasgo de células falciformes (Hb S) con 14,5%. El hematólogo fue el profesional que más frecuentemente solicitó EC. DISCUSIÓN: Se detectó que las hemoglobinopatías se diagnostican usualmente en niños mayores de siete años. Esto puede favorecer las complicaciones y progresión de la enfermedad, y aumento en los costos de la salud. Se requiere más información y educación a los médicos generales y pediatras para un diagnóstico más temprano.
OBJECTIVE: The objective of this study is to spread awareness among health personnel about the importance of early detection of hemoglobinopathies since it is the most frequent monogenic recessive disorder worldwide. PATIENTS AND METHOD: Retrospective study of the results of capillary electropho resis (CE) of 152 patients aged between 0 and 18 years who were evaluated in 2017 due to suspected hemoglobinopathies in a University Hospital in Colombia. The information was collected from me dical records and the Hematology and Hemostasis Laboratory, ensuring data privacy and approved by the local Ethics Committee. RESULTS: Of 152 patients, 48.6% were aged between 7 and 18. The frequency of hemoglobinopathies was 42.7%. The most frequent hemoglobin variant was the sickle cell trait (Hb S) with 14.5%. The hematologist was the professional who most frequently requested CE. DISCUSSION: We found that hemoglobinopathies are usually diagnosed late in pediatric patients. This may favor complications and progression of the disease and increase healthcare costs. More information and education are required for general physicians and pediatricians in order to achieve early diagnosis.
Subject(s)
Humans , Male , Female , Infant, Newborn , Infant , Child, Preschool , Child , Adolescent , Practice Patterns, Physicians'/statistics & numerical data , Delayed Diagnosis/statistics & numerical data , Hemoglobinopathies/diagnosis , Prognosis , Quality of Life , Retrospective Studies , Colombia/epidemiology , Electrophoresis, Capillary , Early Diagnosis , Developing Countries , Hemoglobinopathies/epidemiology , Hospitals, UniversityABSTRACT
Resumen Generalmente, los pacientes con rasgo falciforme sufren pocas manifestaciones del espectro de la anemia de células falciformes. El infarto esplénico es raro, pero es una complicación documentada del rasgo falciforme y, usualmente, se presenta en condiciones de disminución de la presión parcial de oxígeno, como ocurre en grandes alturas. Se presenta el caso de un joven sin antecedentes, quien presentó dolor súbito en hipocondrio izquierdo luego de viaje a zona de gran altura y en quien se documentó infarto esplénico y posteriormente se confirmó como etiología del cuadro, rasgo falciforme mediante electroforesis de hemoglobina. La mayoría de los pacientes desconocen su rasgo falciforme, lo que hace desafiante su enfoque, retrasa el diagnóstico y resulta en manejos inadecuados que pueden aumentar la extensión del infarto esplénico y requerir finalmente esplenectomía.
Abstract Generally, patients with sickle cell trait have few manifestations of the sickle cell spectrum. Splenic infarction is rare, but is a documented complication of sickle cell trait and usually occurs under conditions of decreased partial pressure of oxygen, such as at high altitudes. We present the case of a young man with no previous history who presented sudden pain in the left hypochondrium after traveling to a high-altitude area. Splenic infarction was documented and sickle cell trait was later confirmed with hemoglobin electrophoresis as the etiology of the condition. Most patients remain ignorant of their sickle cell trait, which makes their approach challenging, delays diagnosis, and results in inappropriate management that may increase the extent of splenic infarction and eventually require splenectomy.
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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)
Subject(s)
Humans , Female , Adult , Sickle Cell Trait , Diagnosis, Differential , Renal Nutcracker Syndrome/diagnosis , Hematuria/diagnosisABSTRACT
Introduction: Pregnancy in sickle cell disease (SCD) is associated with an increased risk of maternal and fetal morbidity and mortality. Objective: The objective of this study was to study the maternal and perinatal outcome of pregnancy in women with SCD/trait. Methods: This is a comparative study. Study group (subjects) consisted of 128 pregnant women with SCD/sickle cell trait who were attending the antenatal clinic or were admitted in obstetric wards and followed up until the 7th day after delivery. The control group consisted of 256 age and gravidity matched pregnant women who did not have SCD/trait recruited from the same hospital. Results: Statistically significant complications during pregnancy included anemia, crisis, and preeclampsia. Incidence of preterm deliveries, cesarean section, adverse fetal outcome in terms of stillbirths intrauterine deaths early neonatal deaths, and low birth weight was not significantly higher in the study group than in the control group. Conclusion: Incidence of preeclampsia (P = 0.0001) and congestive cardiac failure (P = 0.0001) was significantly high among the women with SCD.
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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.
Subject(s)
Humans , Infant, Newborn , Sickle Cell Trait/epidemiology , Geographic Mapping , Sickle Cell Trait/ethnology , Sickle Cell Trait/blood , Brazil/ethnology , Brazil/epidemiology , Hemoglobin, Sickle/analysis , Incidence , Cities/epidemiology , Hemoglobinopathies/epidemiology , Anemia, Sickle Cell/epidemiologyABSTRACT
ABSTRACT Introduction Evidence indicates an increase in the prevalence of enuresis in individuals with sickle cell disease. The present study aims to evaluate the prevalence and impact of enuresis on quality of life in individuals with sickle cell disease. Materials and Methods This cross-sectional study evaluated individuals with sickle cell disease followed at a reference clinic, using a questionnaire designed to evaluate the age of complete toilet training, the presence of enuresis and lower urinary tract, and the impact on quality of life of these individuals. Results Fifty children presenting SCD (52% females, mean age ten years) were included in the study. Of those, 34% (17/50) presented as HbSC, 56% with HbSS (28/50), 2% Sα-thalassemia (1/5) and 8% the type of SCD was not determined. The prevalence of enuresis was 42% (21/50), affecting 75% of subjects at five years and about 15% of adolescents at 15 years of age. Enuresis was classified as monosymptomatic in 33.3% (7/21) and nonmonosymptomatic in 66.6% (14/21) of the cases, being primary in all subjects. Nocturia was identified in 24% (12/50), urgency in 20% (10/50) and daytime incontinence 10% (5/50) of the individuals. Enuresis had a significant impact on the quality of life of 67% of the individuals. Conclusion Enuresis was highly prevalent among children with SCD, and continues to be prevalent throughout early adulthood, being more common in males. Primary nonmonosymptomatic enuresis was the most common type, and 2/3 of the study population had a low quality of life.
Subject(s)
Humans , Male , Female , Child, Preschool , Child , Adolescent , Adult , Young Adult , Quality of Life , Enuresis/physiopathology , Enuresis/epidemiology , Anemia, Sickle Cell/physiopathology , Anemia, Sickle Cell/pathology , Brazil/epidemiology , Prevalence , Cross-Sectional Studies , Surveys and Questionnaires , Sex Distribution , Age Distribution , Visual Analog ScaleABSTRACT
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.
Subject(s)
Adolescent , Child , Humans , Male , alpha-Thalassemia , Anemia , Blood Cell Count , Chromatography, Liquid , Electrophoresis, Capillary , Erythrocyte Indices , Ferritins , Hematologic Diseases , Iraq , Iron , Sickle Cell Trait , TransferrinABSTRACT
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.
Subject(s)
Humans , Male , Female , Adolescent , Adult , Young Adult , Sickle Cell Trait/epidemiology , Health Surveys/methods , beta-Thalassemia/epidemiology , Socioeconomic Factors , Brazil/epidemiology , Prevalence , Cross-Sectional Studies , Health Surveys/statistics & numerical data , Chromatography, High Pressure Liquid , Sex Distribution , Age Distribution , Middle AgedABSTRACT
Background: The inherited disorders of haemoglobin are the commonest single gene disorder of the world population. Sickle cell anaemia being the most widespread and numerically the most important haemoglobinopathy in the world today. The major features of sickle cell disease (SCD) in most patients are life-long anaemia and the consequences of recurrent vaso-occlusion. Many complications of SCD involve anaemia, vasoocclusion etc. Impairment of pulmonary function is a common complication of SCD. The patients suffering from this disease frequently present with complaints referable to the pulmonary system although other systems are also involved. Hence present study was carried out to determine the difference in the pulmonary function tests between male and female sickle cell disease patients ( HbSS ),sickle cell trait patients(HbAS)and compare with normal controls ( HbAA) non-sicklers. Aim and Objectives: 1) To study the pulmonary alterations in cases of homozygous SS & heterozygous AS Sickle Cell Disorder subjects.2) To compare the parameters with normal healthy controls of both sexes & assess the importance of PFT in "Steady State"(free from complications or crisis)as an objective evidence to predict the risk of "Sickle Cell Chronic Lung Disease'' in future. Method:Across sectional study was done in 50 cases of SCD (22HbSS& 28HbAS) and age and sex matched normal 50 HbAAcontrols. From the various measured pulmonary function test( PFT )parameters Forced Vital Capacity( FVC),Forced Expiratory Volume in 1 sec(FEV1) Peak Expiratory Flow Rate(PEFR)in both sexes were selected for the study. The data collected was subjected to statistical analysis involving computation of Mean, Standard deviation, Independent Ttest. Result: Mean value of FVC, FEV1 and PEFR were found to be significantly lower than normal controls, but the difference in FVC between HbAS and HbSS turned out to be statistically non-significant whereas the difference in FEV1, PEFR between HbAS and HbSS was statistically significant.The lung function indices were lower in females than males of the sickle cell patients. Conclusion: There were significant reductions in pulmonary function test parameters in sickle cell anaemia patients as compared to normal controls of a similar age and gender.It is indicative of mixed pattern (both restrictive and obstructive) lung impairment in sickle cell anaemia.
ABSTRACT
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.
Subject(s)
Humans , Male , Female , Sickle Cell Trait/epidemiology , Hemoglobins/genetics , Ethnicity/genetics , Anemia, Sickle Cell/epidemiology , Sickle Cell Trait/genetics , Genetic Variation , Brazil/epidemiology , Prevalence , Surveys and Questionnaires , Chromatography, High Pressure Liquid/methods , Consanguinity , Amino Acid Substitution/genetics , Black or African American/genetics , Gene Frequency , Anemia, Sickle Cell/geneticsABSTRACT
Aim: The intent of this study is to report the distribution of hemoglobin variants among teenagers in South -West Nigeria. Study Design: Cross sectional study. Place/Duration: Babcock University, Ilisan-Remo, Ogun State, South-West Nigeria between September 2013 and March 2015. Methods: Hemoglobin (Hb) variants were determined in two thousand, four hundred and six teenagers using the alkaline electrophoresis method. Results: The distribution of Hemoglobin electrophoresis is as follows; HbAA 1821 (75.7%), HbAS 498 (20.7%), HbAC 47 (2.0%), HbCC 01 (0.0%), HbSC 12 (0.5%), HbSS 27 (1.1%). Conclusion: The incidence of hemoglobinopathies is reduced among the teenagers in South- West Nigeria.
ABSTRACT
INTRODUÇÃO: A doença renal crônica (DRC) é uma doença grave que atinge cerca de 10% da população mundial. Devido à perda irreversível da função dos rins, os pacientes precisam do tratamento dialítico e desde 2010, no Brasil, a taxa de pacientes em diálise cresce de 3% cada ano. Cerca 93% do tratamento está financiado pelo SUS o que corresponde a 10% do orçamento do Ministério da Saúde. As principais causas de DRC no Brasil e no mundo são diabetes mellitus (DM) e hipertensão arterial sistêmica (HAS), seguido de glomerulopatias. As alterações podem ser complicadas por condições de hipóxia tecidual, as quais podem ser intensificadas pela doença falciforme. Os indivíduos com traço falciforme podem apresentar esse quadro clínico em condições extremas como um esforço físico intenso e prolongado. OBJETIVO: O objetivo deste estudo foi investigar a associação entre o traço falciforme e a progressão de DRC em Salvador-BA. MATERIAL E MÉTODOS: Foi desenvolvido um estudo de corte transversal, no qual no período de maio de 2014 até novembro de 2015...
INTRODUCTION: Chronic Kidney Disease (CKD) is a serious disease that affects about 10% of world population. It is due to irreversible loss of kidney function, so necessitating the patients need of dialysis treatment and since 2010, in Brazil, the rate of patients on dialysis is growing by 3% each year. About 93% of the treatment is funded by SUS which corresponds to 10% of the Health Ministry´s budget. The main causes of CKD in Brazil and in the world are diabetes mellitus and arterial hypertension, followed by glomerulopathies. The alterations can be complicated by conditions of tissue hypoxia, which can be intensified by the sickle cell disease. Individuals with sickle cell trait, although asymptomatic may present these clinical features in extreme conditions such as intense and prolonged physical activities. AIM: The aim of this study was to investigate the association between sickle cell trait and progression of CKD in patients on hemodialysis (HD) in Salvador, Bahia. MATERIAL AND METHODS: A cross-sectional cohort study was conducted from May 2014 to November 2015...