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)

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.

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.

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.

Enfermedad de células falciformes en el embarazo / Sickle Cell Disease in Pregnancy

La anemia de células falciformes o drepanocitosis, es una de las hemoglobinopatías estructurales más comunes en el mundo. La clínica se resume en oclusión vascular e isquemia tisular, anemia hemolítica y la susceptibilidad a infecciones. La procreación en mujeres con hemoglobinopatías deviene un grave problema de salud, que exige una atención diferenciada y multidisciplinaria. Para esta afección no existe tratamiento especifico definitivo, el arsenal medico existente solo puede manejar los efectos y no la causa. La siguiente revisión tiene como objetivo ofrecer a los profesionales algunos aspectos relacionados con la fisiopatología, una discusión del problema clínico, diagnóstico y opciones terapéuticas de la enfermedad, lo que permite contribuir en la reducción de la morbilidad y mortalidad materna y perinatal. Se concluye que un alto índice de perspicacia y buen diagnóstico es menester para obtener resultados óptimos en las embarazadas afectadas por enfermedad de células falciformes(AU)

Sickle cell anemia or sickle cell disease is one of the most common structural hemoglobinopathies in the world. The clinic is summarized in vascular occlusion and tissue ischemia, hemolytic anemia and vulnerability to infections. Procreation in women with hemoglobinopathies becomes a serious health problem that requires a differentiated and multidisciplinary care. There is no definitive specific treatment for this condition, the existing medical resources can only address the effects and not the cause. The following review aims to offer professionals some aspects related to the pathophysiology, a discussion of the clinical problem, diagnosis and treatment options, which can contribute in reducing morbidity and maternal and perinatal mortality. It is concluded that high level of insight and good diagnosis are necessary for optimum results in pregnant women affected by sickle cell disease(AU)

Morbilidad y mortalidad de la anemia drepanocítica: estudio observacional de 36 años / Morbidity and mortality of sickle cell anemia: thirty six years of observational study

Introducción: la anemia drepanocítica es la anemia hemolítica congénita más común del mundo. Entre el 5 y el 15 por ciento de la población mundial es portadora de la hemoglobina S. En Cuba es del 3,08 por ciento, lo que representa un problema de salud pública. Objetivo: identificar la morbilidad y la mortalidad en la anemia drepanocítica en el Instituto de Hematología e Inmunología (IHI). Métodos: fueron estudiados todos los enfermos con seguimiento de al menos dos años en el IHI entre enero de 1973 y diciembre de 2009. Resultados: se incluyeron 411 pacientes, de ellos, 215 mujeres. El seguimiento medio fue de 17,8 ± 9,8 años. El promedio anual de crisis vasoclusivas dolorosas, ingresos hospitalarios e infecciones fue de 1,8; 1,7; y 1,2, respectivamente. Las crisis vasoclusivas dolorosas, el síndrome torácico agudo y las crisis hepáticas fueron las manifestaciones clínicas más frecuentes, con ligero predominio en las mujeres, pero sin significación estadística en los dos últimos. El número de hospitalizaciones y consultas médicas fue mayor en los grupos de edades extremas. Los valores hematológicos y bioquímicos estaban dentro de los rangos esperados para la enfermedad, excepto los leucocitos; no hubo diferencias entre los sexos. Se diagnosticaron 132 embarazos en 86 pacientes. No hubo muertes maternas y sólo 5 muertes perinatales. La supervivencia global fue de 55 años. Las causas más frecuentes de muerte fueron las complicaciones hepáticas, accidentes vasculares encefálicos y la insuficiencia cardíaca. Conclusiones: los pacientes fueron similares a lo descrito en la literatura, clínica y hematológicamente, excepto la frecuencia de complicaciones hepáticas que fue mayor. La probabilidad de supervivencia fue alta. Este estudio confirma la eficacia de los programas nacionales implementados en Cuba en el diagnóstico, seguimiento y tratamiento de la enfermedad(AU)

Introduction: Sickle cell anemia (SS) is the most common congenital hemolytic anemia worldwide. The sickle cell trait (AS) comprises a range between 5 to 15 percent of the world population. In Cuba it is 3, 08 percent, which represents a public health problem. Objective: Identify morbidity and mortality in sickle cell anemia at the Institute of Hematology and Immunology (IHI). Methods: All patients followed at least two years at the IHI between January 1973 and December 2009 were studied. Results: 411 patients with sickle cell anemia were studied (January, 1973 to December, 2009), 215 female. Mean follow-up was 17.8 ± 9.8 years. The average annual vasoocclusive painful crises, hospital admissions and infection were 1.8; 1.7; and 1.2, respectively. Vasoocclusive painful crises, acute chest syndrome and hepatic crises were the most frequent clinical manifestations, with slight predominance in females, but not statistically significant in the last two. The number of hospitalizations and medical consultations was higher in extreme age groups. The hematological and biochemical values ​​were within expected ranges for the disease except leukocytes; there were no differences between sex. One hundred thirty two pregnancies in 86 patients were diagnosed. There were no maternal deaths and only 5 perinatal deaths. Overall survival was 55 years. The most frequent causes of death were liver complications, strokes and heart failure. Conclusions: Patients were similar clinical and hematologically as described in the literature, except the frequency of liver complications which was higher. The probability of survival was high. This study confirms the effectiveness of national programs implemented in Cuba in the diagnosis, monitoring and treatment of the disease(AU)

Prevalência das hemoglobinas S e C em heterozigose em duas comunidades de povos de Terreiros na cidade de Teresina, Piauí / Prevalence of hemoglobins S and C in heterozygous in two communities of Umbanda Temple in the city of Teresina, Piauí, Brazil

Doença hereditária de maior prevalência no Brasil e no mundo, a doença falciforme é considerada problema de saúde pública. Indivíduos que apresentam a HbS em homozigose (SS) evidenciam uma condição grave da doença, enquanto indivíduos com a HbS em heterozigose AS e AC (traço falciforme), não apresentam manifestações clínicas, conferindo uma vida normal ao seu portador. O presente estudo objetivou fornecer subsídios para a consolidação do Programa Estadual da Doença Falciforme no estado do Piauí, apresentando a prevalência da doença falciforme e a sua herança genética em 62 indivíduos frequentadores de terreiros de Umbanda. A determinação das hemoglobinas variantes foi realizada por cromatografia líquida de alta performance (HPLC), utilizando o analisador de hemoglobinas Variant-II (Biorad). O estudo evidenciou a presença das hemoglobinas Hb AS (N=4) 6,5%; Hb AC (N=3) 4,8%; Hb SC (N=2) 3,2%. Dos 62 indivíduos pesquisados com Hemoglobinas variantes, 19 eram do sexo masculino, enquanto 43 eram do sexo feminino. Apresentaram hemoglobinas variantes 7 mulheres e 2 homens. A maioria da população estudada estava constituída por pessoas negras (87%), seguido por pardos (8%) e brancos (5%). A soma da porcentagem de negros e pardos é de 95%. O presente estudo piloto corrobora a hipótese da prevalência elevada da doença falciforme e da sua herança genética na população negra do estado do Piauí, necessitando da sua continuidade, com cobertura de maior quantidade do universo de terreiros, aliada a ações de atenção à saúde.(AU)

Hereditary disease most prevalent in Brazil and worldwide, sickle cell disease is considered a public health problem. Individuals who present in homozygous HbS (SS) show a severe condition of the disease, while individuals with heterozygous HbS AC and AS (sickle cell trait) show no clinical manifestations, giving a normal life to its bearer. The present study aimed to provide support for the consolidation of the state program of sickle cell disease in Piauí state, present the prevalence of sickle cell disease and its genetic inheritance in 62 individuals goers yards of Umbanda Temple. The determination of hemoglobin variants was performed by high performance liquid chromatography (HPLC) using the analyzer-II variant hemoglobins (Biorad). The study revealed the presence of hemoglobin Hb AS (N = 4) 6.5%; Hb AC (N = 3) 4.8%; Hb SC (N = 2) 3.2%. Of the 62 individuals surveyed with Hemoglobin variants, 19 were male while 43 were female. Showed hemoglobin variants 7 women and 2 men. The majority of the study population was constituted by black people (87%), followed by brown (8%) and whites (5%). The sum of the percentage of blacks and browns is 95%. This pilot study supports the hypothesis of a high prevalence of sickle cell disease and its genetic inheritance in the black population of the state of Piauí, requiring its continuity, covering much of the universe of Umbanda Temple, combined with actions of health care.(AU)

Epidemiology of sickle cell disease in Saudi Arabia

Sickle cell disease [SCD] is an autosomal recessive disorder characterized by production of abnormal hemoglobin S and is associated with high morbidity and mortality. Information about the prevalence of SCD in Saudi Arabia is patchy and probably underestimated, but studies have reported that SCD is a relatively common genetic disorder in this part of the world. The prevalence of SCD in Saudi Arabia varies significantly in different parts of the country, with the highest prevalence is in the Eastern province, followed by the southwestern provinces. The reported prevalence for sickle-cell trait ranges from 2% to 27%, and up to 2.6% will have SCD in some areas. Clinical and hematological variability exists in SCD in Saudi Arabia with two major phenotypes: a mild phenotype and a severe phenotype. Further studies on the prevalence, molecular and clinical epidemiology of SCD may help predict disease severity and risk stratification of patients to determine whether to receive early intensive care or continued symptomatic care

Prevalência do traço e da anemia falciforme em recém-nascidos do Distrito Federal, Brasil, 2004 a 2006 / Prevalence of sickle cell trait and sickle cell anemia among newborns in the Federal District, Brazil, 2004 to 2006

Para determinar a prevalência da anemia e traço falciforme em recém-nascidos no Distrito Federal, Brasil, no período de 2004 a 2006, foi realizado um estudo seccional de prevalência. Foram utilizados os registros dos resultados de testes realizados de 2004 a 2006 pelo Programa de Triagem Neonatal da Secretaria de Estado de Saúde do Distrito Federal, e calculados os coeficientes de prevalência. As amostras de sangue dos recém-nascidos foram analisadas pela técnica de focalização isoelétrica. No período de 1º de janeiro de 2004 a 31 de dezembro de 2006, foram realizados 116.271 testes de triagem neonatal para hemoglobinopatias, correspondendo a 85 por cento do número de nascidos vivos de mães residentes no Distrito Federal. Foram identificados, nos três anos, 3.760 recém-nascidos, com traço falciforme (Hb AS) e 109 com anemia falciforme (Hb SS). Os coeficientes de prevalência foram, respectivamente, 323 (Hb AS) e 9 (Hb SS) por 10 mil nascidos vivos. A elevada prevalência do traço falciforme evidencia a importância da triagem neonatal no Distrito Federal para atuação de gestores e profissionais da saúde no planejamento de ações educativas e na redução da morbidade associada às doenças falciformes.

To determine the prevalence of sickle cell trait and sickle cell anemia among newborns in the Federal District, Brazil, a cross-sectional prevalence study covering the years 2004 to 2006 was conducted. Test results reported from the Neonatal Screening Program in the Federal District Health Department from 2004 to 2006 were analyzed, and prevalence rates were calculated. Neonatal blood samples were tested by isoelectric focalization. From January 2004 to December 2006, 116,271 newborns were tested for hemoglobinopathies, corresponding to 85 percent of all live births from mothers residing in the Federal District. The study identified 3,760 newborns with sickle cell trait (Hb AS) and 109 with sickle cell anemia (Hb SS). The prevalence rates were 323 (Hb AS) and 9 (Hb SS) per 10,000 live births. The high prevalence of sickle cell trait highlights the importance of neonatal screening in the Federal District to support work by health managers and professionals for planning educational measures and reducing the morbidity associated with sickle cell disease.

Childhood haemoglobinopathies in Benghazi

To determine the epidemiological pattern of haemoglobinopathies in Benghazi through the Children's Hospital in Benghazi as well as geographical distribution of cases. The information was initially collected retrospectively through the haematology clinic records, and then refined from the patients during their visit in the last 5 months. A total of 78 files of haemoglobinopathies, represented [18.1%] the total cases in the clinic. Sickle cell anaemia [74%], sickle cell trait [17%] haemoglobin C+S [6%], haemoglobin C trait [3%]. Consanguinity in 61% of the families. Their age at evaluation ranged from 6 months to 26 years with a mean of 10.84+6.75. mean of haemoglobin 7.5+2. Male to female ratio 1:1.4. For each patient: the number of admissions ranged from 1-10 times with a mean of 2.6, and the frequency of blood transfusions ranged from 0-10 times. cholelithiasis [4.8%], stroke [hemiplegia] 6[9.5%], hepatitis B and C [9.5%], HIV [3.1%], hypersplenism [6.3%], acute chest syndrome [6.3%]. One patient died from overwhelming sepsis [post splenectomy]. Almost all the cases were originally from the southern areas, dark skinned, poor school performance. Symptomatic cases were registered, with a high non-compliance, and higher percentage of consanguinity. A national programme for the control of the disease by reducing carrier marriage is needed

Ocorrência de hemoglobina S no estado de Mato Grosso do Sul, Brasil / Occurrence of hemoglobin S in Mato Grosso do Sul state, Brazil

INTRODUÇÃO: As hemoglobinopatias são as alterações genéticas mais comuns no homem, sendo a hemoglobina (Hb) S a mais freqüente entre todas. Sua ocorrência no estado de Mato Grosso do Sul ainda não foi sistematicamente avaliada. OBJETIVOS: Caracterizar a ocorrência de Hb S por genótipos, sexo, idade no momento do diagnóstico, índice de cobertura e prevalência em Mato Grosso do Sul. MATERIAL E MÉTODO: Estudo retrospectivo, transversal e descritivo, desenvolvido com os resultados de triagem neonatal para hemoglobinopatias, utilizando a técnica de cromatografia líquida de alta pressão, no Instituto de Pesquisas, Ensino e Diagnósticos da Associação de Pais e Amigos dos Excepcionais (IPED/APAE) de Mato Grosso do Sul em 2000-2005. RESULTADOS: De 190.809 indivíduos triados, 2.624 (1,38 por cento) encontraram-se alterados, correspondendo a 2.385 neonatos e 239 crianças maiores de 28 dias. Não houve diferença entre os sexos, sendo 1.335 do sexo feminino e 1.289 do masculino. Os genótipos alterados encontrados foram traço falciforme (FAS [99,16 por cento]) e doenças falciformes (FS [0,61 por cento] e FSC [0,23 por cento]). CONCLUSÃO: Esse primeiro estudo de triagem realizado no estado de Mato Grosso do Sul mostra que o programa desenvolvido pelo IPED/APAE está se solidificando no estado e avançando em relação ao índice de cobertura da população e ao diagnóstico precoce. Esses indicadores podem embasar ações preventivas (aconselhamento genético e estudos familiares) e assistenciais (tratamento ambulatorial contínuo), que visam à redução da morbimortalidade de indivíduos acometidos por essas afecções no estado.

BACKGROUND: Hemoglobinopathies are the most common genetic disorders in humans and Hb S is the most frequent among them. Its occurrence in the state of Mato Grosso do Sul has not been systematically analyzed yet. OBJECTIVES: To describe the occurrence of hemoglobin S according to genotypes, gender, age at the moment of diagnosis, cover index and prevalence in the state of Mato Grosso do Sul. MATERIAL AND METHOD: Retrospective, transversal and descriptive study of the results of neonatal screening for hemoglobinopathies performed with high pressure liquid chromatography technique at Instituto de Pesquisa, Ensino e Diagnósticos da Associação dos Pais e Amigos dos Excepcionais (IPED/APAE) in the state of Mato Grosso do Sul (2000-2005). RESULTS: Among 190,809 screened individuals, 2,624 (1.38 percent) showed alterations, 2,385 were neonates and 239 were children aged 28 days or more. There was no difference in gender (1,335 females and 1,289 males). The altered genotypes were FAS (99.16 percent), FS (0.61 percent) and FSC (0.23 percent). CONCLUSION: This first study of neonatal screening in the state of Mato Grosso do Sul revealed that the state program developed by IPED/APAE has been consolidating and advancing as to cover index and early diagnosis. These indicators may be the basis for preventive (genetic counseling and family studies) and assistance measures (continuous ambulatory treatment), which aim at the reduction of morbimortality in individuals with these hemoglobinopathies in the state.

Haemoglobinopathies encountered at Khoula Hospital, Oman: a retrospective study

The objective of this study was to find out the frequency of abnormal haemoglobins [Hb] in patients referred to Khoula Hospital, Oman and compare the data from other studies by assessing a large number of patients. The results of 27,403 patients, either admitted to Khoula Hospital or referred to it from different health centres during the 4 years of the study from January 2001 till December 2004, were analysed for haemoglobinopathies. The laboratory methods used for detection of abnormal haemoglobins were sickle cell solubility test and haemoglobin electrophoresis. The frequency of sickle cell trait was 7.5%, sickle cell disease 0.46% and other Hb variants were 0.102%. The results correlate well with that of the National Genetic Blood Disorder Survey carried out by the research and studies department, Ministry of Health, Sultanate of Oman, during a 4 year period from January 2001 till December 2004. This retrospective study demonstrates the high prevalence of haemoglobinopathies among the studied group of patients. More attention to the importance of health education and genetic counselling is required for the prevention of this public health problem in the country

Spectrum of anemia in pregnant Indian women and importance of antenatal screening.

Anemia is a common health problem but control of anemia in pregnant women is less well studied. The purpose was to study prevalence of anemia in young pregnant women, correlate with indices and study significance of identification of hemoglobinopathies. Of the 120 pregnant women, Hb was less than 8 g% in 58 (44.2%). Seventy-eight (65%) had iron deficiency, 22 (18.3%) had dimorphic anemia, and 14 (11.6%) had hemolytic anemia. Megaloblastic anemia was present in 6 (5%). Of hemolytic anemia, 50% were thalassemia trait. MCV< 76 fl was observed in 88 (73.3 %) cases. MCV<76 fl and MCH < 27 pg had 100 % sensitivity and 28.7 % specificity for screening of beta-thalassemia trait. NESTROFT had comparable sensitivity but lower specificity (14.9%). Sixty-three percent (60/78) of IDA had increased RDW whereas 78 % (11/14) of hemolytic anemia had RDW value in normal range (p value< 0.05). MCV/RBC of <14 was more specific parameter (96.8%) for beta-thalassemia trait. Four high-risk couples were identified. Thus, moderate to severe anemia was observed in most pregnant women. Hemoglobinopathies should be screened in antenatal clinics to identify the couples that would need a prenatal test. A lower MCV/RBC with RDWin the normal range may be useful in screening for thalassemia trait in pregnant women.

Percentage of HbS among cases of sickle-cell trait in Basra, Iraq

The proportion of sickle haemoglobin [HbS] was determined in 170 sickle-cell-trait individuals; 75 [44.1%] individuals had HbS% > 38%, 54 [31.8%] had HbS% between 31% and 38% and 41 [24.1%] had HbS% < 31%. There was positive correlation between HbS% and haemoglobin concentration, packed cell volume, mean corpuscular haemoglobin, mean corpuscular volume and target cell percentage. Multiple regression analysis indicated that measurement of haemoglobin concentration, mean corpuscular haemoglobin and target cell percentage could be used to predict the HbS%

Renal dysfunction in patients with sickle cell anemia or sickle cell trait

Patients with sickle cell anemia (Hb SS) or sickle cell trait (Hb AS) may present several types of renal dysfunction; however, comparison of the prevalence of these abnormalities between these two groups and correlation with the duration of disease in a large number of patients have not been thoroughly investigated. In a cross-sectional study using immunoenzymometric assays to measure tubular proteinuria, microalbuminuria, measurement of creatinine clearance, urinary osmolality and analysis of urine sediment, we evaluated glomerular and tubular renal function in 106 adults and children with Hb SS (N = 66) or Hb AS (N = 40) with no renal failure (glomerular filtration rate (GFR)>85 ml/min). The percentage of individuals with microalbuminuria was higher among Hb SS than among Hb AS patients (30 vs 8 per cent, P<0.0001). The prevalence of microhematuria was similar in both groups (26 vs 30 per cent, respectively). Increased urinary levels of retinol-binding protein or ß2-microglobulin were detected in only 3 Hb SS and 2 Hb AS patients. Urinary osmolality was reduced in patients with Hb SS or with Hb AS; however, it was particularly evident in Hb SS patients older than 15 years (median = 393 mOsm/kg, range = 366-469) compared with Hb AS patients (median = 541 mOsm/kg, range = 406-722). Thus, in addition to the frequently reported early reduction of urinary osmolality and increased GFR, nondysmorphic hematuria was found in 26 and 30 per cent of patients with Hb SS or Hb AS, respectively. Microalbuminuria is an important marker of glomerular injury in patients with Hb SS and may also be demonstrated in some Hb AS individuals. Significant proximal tubular dysfunction is not a common feature in Hb SS and Hb AS population at this stage of the disease (i.e., GFR>85 ml/min)

Prevalence of sickle cells in Irula, Kurumba, Paniya & Mullukurumba tribes of Nilgiris (Tamil Nadu, India).

A total of 1377 tribals, comprising Irulas (536), Paniyas (196), Kurumbas (87), Mullukrurumbas (156) and Soligas (402), living in the Nilgiris, Tamil Nadu, India were studied for sickle cell trait between 1981-85. Patients attending various tribal clinics at Arayure, Kozhikarai, Kothagiri and Biligiri Rengan hills for various ailments were screened at random by solubility test and by acetate paper electrophoresis, if required. HbAS carrier frequency was 30-37.8 per cent in all the tribals studied except Kurumbas (19.5%). The frequency of carriers were more (37.8%) on the western part of Nilgiris (Nedungode, Kappala and adjoining regions) than the eastern part (30%). Further, the prevalence of carriers was higher (47-49%) in the 10-19 yr age group amongst Paniyas and Mullukurumbas living in the western part of Nilgiris. An episodic, epidemic of malaria so rampant during the early part of this century in the western parts of Nilgiris might have eliminated many children with HbAA and hence the higher frequency of HbAS in this particular age group.

Sickle cell disease in adult bedouins of Al-Ain district, UAE

Twenty-four adult UAE national and Omani patients with sickle cell disease were diagnosed during the period 1987 - 1991 in Al-Ain Hospital, United Arab Emirates. Their clinical, haematological and biochemical parameters were analysed. The overall picture was that of a mild-to-moderate disease similar to that described in Eastern Saudi Arabia and different from the severe form seen in Africa. Most patients had few admissions, vaso-occlusive crises, blood transfusions or other complications. Eleven patients had homozygous sickle cell disease [HbSS] and 13 were heterozygous for sickle cell and beta thalassaemia. In general, patients with homozygous sickle cell disease manifested a similar clinical disease pattern and a similar degree of severity to that of patients who had associated thalassaemia. HbF was elevated in all patients, with no difference between the HbSS and the Sickle Cell/beta thalassaemia groups. The levels of HbF in both groups did not relate to the severity of the disease

Sickle cell disease in India.

A screening programme involving 9,822 hospitalised patients revealed the frequency of individuals with S gene to be 11.1 per cent. A population survey of 1,000 randomised subjects from amongst about 70,000 people in one block of the area showed the frequency to be 15.1%. The gene is not confined to tribal peoples, but is prevalent throughout the society, being more frequent in scheduled castes and some caste Hindus. With the available Indian data a sickle cell belt can be mapped out in the country. Analysis of clinical data on the first 700 cases of sickle cell disease seen in the Sickle Cell Research Centre (ICMR) at Burla shows patients of all ages, even beyond 40 years, though many patients tend to die by 20 years of age. Genetically, while most patients are SS and 8.1% are S-beta thalassaemia, cases of SD disease and SE disease were also encountered. A frequency of 0.32% of alpha thalassaemia gene was noted in SS patients against 0.28% in sickle cell trait and 0.12% in AA controls. The disease was found to manifest as early as 3 months or may remain asymptomatic till adult life. Though generally running a milder course, moderate to severe anaemia, vaso-occlusive attacks (86.5-89.36%), splenic sequestration (8.43%-12.76%), crippling avascular bone necrosis (5.7%-35.08%), osteomyelitis (5/700), and epistaxis (28.92%-35.08%) remain a few clinical events deserving competent and urgent medical management.(ABSTRACT TRUNCATED AT 250 WORDS)