Análise do perfil de doadores de sangue positivos para hemoglobina S em hemocentro do estado do Rio Grande do Sul / Profile assessment of blood donors with sickle cell trait in a public blood bank in Southern Brazil

Introdução: Portadores do traço falciforme podem doar sangue, porém requerem maior atenção ao direcionamento da sua transfusão. Considerando o perfil étnico- racial da região sul do Brasil, o presente artigo teve como objetivo analisar o perfil e a prevalência de Hemoglobina S em um hemocentro público de Porto Alegre. Métodos: Estudo transversal retrospectivo realizado através de uma pesquisa em banco de dados cadastrais e de resultados de testes imunológicos no período de janeiro de 2015 a dezembro de 2019. Resultados: Foram obtidos um total de 8.2363 registros cadastrais e 6.7184 testes imunológicos. Dos testes, 467 foram positivos para Hemoglobina S de 134 doadores distintos. O percentual de Hb S positiva apresentou uma média de 0,7% anual entre todos os doadores. Entre doadores autodeclarados "Negros" a prevalência é de 0,92% e "Caucasianos" é de 0,13%. Conclusão: Os dados corroboram com a literatura, porém o espectro social que abrange as denominações "Caucasiano Brasileiro" e "Mestiço" permanecem em questionamento dentro da relevância do marcador étnico da Hemoglobina S no Rio Grande do Sul. (AU)

Introduction: People with sickle cell trait can donate blood, but special attention should be paid to the transfusion recipient. Considering the ethnic-racial profile of Southern Brazil, this article aimed to analyze the profile and prevalence of hemoglobin S in a public blood bank in Porto Alegre. Methods: A quantitative, retrospective, and cross-sectional study was conducted to assess the profile of blood donors positively screened for hemoglobin S from January 2015 to December 2019 in a public blood bank in Southern Brazil. Results: A total of 82,363 records and 67,184 immunohematological tests were obtained. Regarding the tests, 467 were positive for hemoglobin S among 134 different donors. The percentage of positive hemoglobin S has remained stable over the years, with an annual average of 0.7%. The prevalence of self-reported "black" and "Brazilian Caucasian" blood donors was 0.92% and 0.13%, respectively. Conclusions: The data are in accordance with the literature; however, the social spectrum that comprises the terms "Brazilian Caucasian" and "mixed-race" remains in question regarding the relevance of the ethnic marker of hemoglobin S in Southern Brazil. (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.

Sickle cell retinopathy: A literature review / Retinopatia da doença falciforme: revisão da literatura

Summary Hemoglobinopathies are a group of hereditary diseases that cause quantitative or qualitative changes in the shape, function or synthesis of hemoglobin. One of the most common is sickle cell anemia, which, due to sickling of erythrocytes, causes vaso-occlusive phenomena. Among the possible ocular manifestations, the most representative is retinopathy, which can lead to blindness if left untreated. Therefore, periodic ophthalmologic monitoring of these patients is important for early diagnosis and adequate therapeutic management, which can be done localy by treating the lesions in the eyes, or systemically.

Resumo As hemoglobinopatias são um grupo de doenças hereditárias que causam alterações quantitativas ou qualitativas no formato, na função ou na síntese de hemoglobinas. Uma das mais comuns é a anemia falciforme, cuja patogenia é a foicização das hemácias, causando fenômenos vaso-oclusivos. Dentre as manifestações oculares possíveis, a mais representativa é a retinopatia, que pode levar à cegueira caso não seja tratada. Por isso, é importante que haja o acompanhamento oftalmológico periódico desses pacientes, a fim de obter diagnóstico precoce e abordagem terapêutica adequada. Esta última pode ser de maneira direta, com tratamento das lesões oculares, ou de forma sistêmica.

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.

Frecuencia de la hemoglobina S en cinco poblaciones mexicanas y su importancia en la salud pública / Hemoglobin S frequency in five Mexican populations and its importance in public health

OBJETIVO: Informar la frecuencia de heterocigotos para la hemoglobina S (HbS) en cinco poblaciones mexicanas y el haplotipo en cinco muestras con HbS y subrayar su relevancia en la salud pública. MATERIAL Y MÉTODOS: Se tomó una muestra de sangre periférica en 162 individuos no relacionados provenientes de tres poblaciones nahuas (Atocpan y Tlacotenco, DF, e Ixhuatlancillo, Veracruz), y en 131 mestizos (Coyolillo y Poza Rica, Veracruz), previo consentimiento informado. Se determinó el tipo de hemoglobina por electroforesis y se extrajo el DNA de leucocitos de cinco muestras en las que se determinó el haplotipo por PCR y corte con restrictasas. RESULTADOS: Entre los nahuas se reconoció un heterocigoto HbAS (0.6 por ciento) y 18 en mestizos (13.7 por ciento). Se identificaron cuatro haplotipos Bantu y uno Benin. CONCLUSIONES: Estos hallazgos son importantes en términos de la salud pública en poblaciones con alta frecuencia de HbS, para dar información y consejo genético a los portadores y la atención médica oportuna y adecuada a los pacientes.

OBJECTIVE: To provide information regarding the heterozygote frequency for hemoglobin S (HbS) in five Mexican populations, the Haplotype in five S chromosomes, and underscore its importance for public health. MATERIAL AND METHODS: A total of 162 samples from three Nahua populations (Atocpan and Tlacotenco, DF, and Ixhuatlancillo, Veracruz) and 131 from mestizo populations (Coyolillo and Poza Rica, Veracruz) were studied after obtaining informed consent. The hemoglobin type was determined by electrophoresis, and DNA in leucocytes was obtained from five HbS samples. The haplotype was determined by PCR and cut with restrictases, according to literature. RESULTS:We found one heterozygote for hemoglobin S (0.6 percent) among Nahua and 18 among Mestizo groups (13.7 percent). Four haplotypes were Bantu and one was Benin. CONCLUSIONS: These findings are important to public health for populations with a high frequency of HbS, to inform and provide genetic counseling for carriers and medical attention to patients.

Presence of Hb S in Uttaranchal.

Haemoglobin-S has been reported in several studies on remote populations from various parts of India eg Maharashtra, Madhya Pradesh, Andhra Pradesh, Orissa, West Bengal, Rajasthan and Malaysian Indians. Uttaranchal also has got scattered areas with people living in remote-pockets due to its geophysical nature. There has been no previous report from this state about prevalence of Hb-S. In the present study on 38 individual eight were found to have Hb-S positivity by sickling test. In one of these electrophoretic confirmation was positive with demonstration of associated Beta thalassaemia. The group was a family of muslims in village Baghori near Haldwani. Due to technical, geographical and social restrictions further study could not be done. However, this study does establish the presence of Hb-S-Beta thalassaemia in Uttaranchal State for the first time. Follow up study in the affected area and elsewhere in the state might discover more of Hb-S positivity, other haemoglobinopathies and thalassaemias.

Role of hepatic enzymes in the biochemical assessment of the severity of sickle cell anemia.

BACKGROUND AND OBJECTIVES: Various clinical and hematological indices have been used to assess the severity of Sickle Cell Anemia (SCA), however biochemical indices are lacking. Hepatomegaly has been a frequent finding in SCA and its persistence has been associated with increased disease severity. The association between hepatic enzymes and disease severity in SCA is undefined. This study was therefore designed to look at the association between clinical severity and hepatic enzymes in SCA subjects with persistent hepatomegaly (that is, lasting more than six months) in order to determine a possible role for hepatic enzymes as a biochemical index of severity. MATERIALS AND METHODS: Serum levels of aspartate transaminase (AST), alanine transaminase (ALT), alkaline phosphatase (SAP) and gamma-glutamyl-transferase (GGT) were determined in two groups of SCA subjects and in hemoglobin genotype AA (HbAA) controls. SCA group comprised of 37 subjects with persistent hepatomegaly equal to or greater than 10 cm (below right coastal margin) while the second group comprised another 38 SCA subjects without palpable hepatomegaly. 40 individuals with hemoglobin genotype AA served as control for both groups. Clinical and hematological parameters of severity which included steady state haematocrit, number of transfusions per year, number of crises per year and percentage HbF level were determined and scored in a manner similar to the Glasgow coma scale. Results obtained were analyzed with the aid of statistical package on EPI-INFO version 6.02. RESULTS: There was a significant increase in serum ALT, ALP and GGT levels in SCA with persistent hepatomegaly over those without hepatomegaly (p < 0.05, p < 0.05 and p < 0.01 respectively). All the index scores and the final aggregate severity scores were also significantly higher in SCA subjects with persistent hepatomegaly. Only GGT demonstrated a fairly positive and significant correlation (r = 0.46, P < 0.05) with increased clinical severity among the hepatic enzymes. CONCLUSION: Elevated serum level of GGT in SCA during steady state is suggestive of increased disease severity.

Study of haemoglobin S percentage and haematological parameters in sickle cell trait.

A total of 101 individuals who showed AS pattern on haemoglobin electrophoresis were included in this study and various haematological investigations were carried out on them. Of these, 79 cases were grouped as AS patients. Twenty two healthy relatives of sickle anemia patients were grouped as AS controls. Twenty AA controls were also included in this study. Haemoglobin S (HbS) and hemoglobin A (HbA) quantitation was carried out. The frequency distribution of HbS percentage showed that maximum subjects had HbS levels above 33%. A female predominance was seen in subjects of sickle cell trait. Haemoglobin levels and total red cell counts of AS patients were found to be significantly lower than those of AS controls. Reticulocyte counts and hematocrit values of AS patients were found to be significantly higher than AS controls. MCV and MCH values of AS patients were found to be significantly lower, but MCHC was not significantly altered.

case of sickle cell hemoglobin D disease-two years follow-up

Sickle cell Hb D disease is a rare disorder presenting clinically as a mild to severe sickle cell anemia. A case of a two-and-a-half-years old female child is reported here who presented with severe sickle cell disease. Patient's father carried sickle cell trait [AS] and mother an Hb D trait [AD]. She was diagnosed by Hb electrophoresis, sickling and solubility tests as well as family studies. The patient has been followed-up for two years. A two-and-a-half-years old female child presented in November, 1998, with syndrome characterized by painful swelling of hands and feet. She also gave one year history of frequent attacks of severe bone pain in legs, feet and hands. Four weeks earlier she had been admitted in a tertiary care hospital with acute respiratory tract infection, swelling and painful extremities. She was treated with antibiotics and blood transfusion as well as investigated for juvenile rheumatoid arthritis. Rheumatoid factor and anti DNA antibodies were found negative. Her parents are second degree relatives. One younger male sibling is asymptomatic. Physical examination revealed tenderness of the extremities and mild hepatosplenomegaly. Her complete blood counts showed moderate anemia [Hb 8.4 g/dl], high leucocyte count [14.0 x 109/l] and reticulocytosis of 20%. The ESR was 4 mm fall after 1 hour. Peripheral smear showed marked anisopoikilocytosis, hypochromia, microcytosis, few macrocytes, microspherocytes, irregularly contracted cells, few target cells, occasional nucleated red cell and numerous sickle cells. Hb electrophoresis showed a single band in the region of Hb S. Hb F was 4%. The sickling and Hb solubility test for hemoglobin S were positive. The differential diagnosis at this stage was between Hb SS and Hb SD as both Hb S and Hb D have similar mobility at alkaline pH and both are present in our population. Since facility for separation of Hb S from Hb D like citrate-agar gel electrophoresis at acid pH was not present, family studies were carried out to reach at a diagnosis. Cellulose-acetate electrophoresis of both the parents showed heterogenous bands of Hb A and a band in the region of Hb S/D. Sickling test was positive in the father while it was negative in mother. The patient had inherited Hb S from father and Hb D from mother. So a final diagnosis of sickle cell Hb D disease was made. Since her diagnosis the patient had been having similar attacks of bone pain and repeated respiratory tract infection. She had six hospital admissions over the past two years due to infections [thrice], vaso-occlusive crises in the form of severe bone pain [twice] and hemolytic crises [once]. Her Hb ranged from 7-10 g/dl; blood transfusions were required thrice during this period. Renal functions were normal. Spleen had regressed and was no longer palpable; liver was palpable 5 cm below right costal margin. The body growth was normal. The patient was put on prophylactic antibiotics

Preventation of thalassemia in Australia.

Screening for thalassemia and other hemoglobinopathies in the major maternity hospitals in Melbourne, Australia has shown that 6% of the patient population carries a clinically significant genetic abnormality. The most common of these are beta-thalassemia (3%). HbS (1.8%), HbE (0.5%) and alpha0 thalassemia (0.4%). Approximately 60 prenatal diagnoses for the clinically significant combinations of these abnormal genes are performed annually in the 2 major centers of Melbourne and Sydney. The majority of these prenatal diagnoses are for beta-thalassemia major (65%). whilst 11% are for Bart's hydrops fetalis, 8% for HbE/beta-thalassemia. 6% for HbS/beta-thalassemia, 2% for sickle cell anemia and the remaining 8% for other combinations of thalassemia/hemoglobinopathies. Of the 178 patients with beta-thalassemia major, sickle cell disease or beta-thalassemia in combination with HbE or HbS, only 5 are less than 5 years old, reflecting both the success of the screening program and the increasing acceptance by couples of 1st trimester prenatal diagnosis.

Prevalência de hemoglobina "S" em recém-nascidos no Instituto Materno Infantil de Pernambuco-IMIP: importância do diagnóstico neonatal / Prevacnece of \"S\" hemoglobin in newborns of Instituto Materno Infantil de pernambuco-IMIP: importance neonatal diagnostic

Foram analisadas 1.988 amostras de sangue de cordäo umbilical de recém-nascidos (RN) no IMIP, durante o período de outubro de 1996 a março de 1997, com o objetivo de verificar a prevalência de hemoblobina "S" naquela Insituiçäo. O estudo constou da triagem propriamente dita através de eletroforese de hemoglobina em pH 8,6 e do teste de solubilidade, com posterior reallizaçäo do teste confirmatório...

Genetics and public health: response of a brazilian population to an optional hemoglobinopathy program

The efficiency and viability of a hemoglobinopathy program was investigated. The program was offered on a voluntary basis to a Brazilian community (Araras, SP) and started with the blood analyses of pregnant women. A total of 2209 pregnant women were screened in the first 39 months and 80 heterozygotes were diagnosed (52 AS, 19 AT and 9 AC). Another 1003 persons related to these heterozygotes were examined and a total of 432 heterozygotes were diagnosed (241 AS, 140 AT and 51 AC), added to 13 patients with chronic hemolytic anemia (8 SS, 3 SC, 1 TT and 1 CC) and 16 risk couples, made up of two heterozygotes. The examination percentages of pregnant women (100 per cent), newly born children (75 per cent), other children (97 per cent), husbands (56 per cent ) and other relatives (64 per cent) showed the high rate of acceptance of the program in the community. Genetic counselling was accepted by 60 per cent of the heterozygotes over 15 years of age.

Sickle cell syndromes in and around Bardoli.

The study comprised of 2 groups. In group I sickling test was done in students studying in a school which mainly caters to the educational needs of the backward community. Out of 130 students examined 24 were found to be sicklers. The distribution of this cases among various castes/tribes were as follows--Choudharys (Cd)-13, Gamits (Gt)-4, Dhodhia Patels (DP)-4, Koknis (K)-2 and Koli Patel (KP)-1. In group II, patients admitted in the hospital between Jan '81 to June '82 were studied. The prevalence of sickle cell syndrome was 1.74%. The most common mode of presentation were limb pains and weakness. Hemoglobin values ranged from 3.0 gram% to 12 gms%. 35 cases of HbSS, 149 cases of HbAS and 1 case of Sickle Beta thalassemia were seen. The distribution of the cases amongst the various tribes and castes were as follows-Cd-93, Gt-56, DP-23, KP-7, K-4 and Rathods (R)-2. No cases were found in Anavil Brahmins or Patidar Patels. Clinical and pathological observations included palpable splenomegaly in 54 cases, splenic abscess in 1 case, isothenuria in large number of patients, microscopic hematuria in 6 cases and frank hematuria in 1 case. Osteomyelitis and cholecystitis were seen in one case each.

frequency of Hb S and glucose-6-phosphate dehydrogenase phenotypes in relation to malaria in western Saudi Arabia

This study was conducted on 6265 Saudi males and females living in six different areas i.e. Yanbu, Makkah, AI-Qunfuda, Bisha, AI-Baha and Jaizan, in western Saudi Arabia. It was conceived to determine and relate the frequency of Hb S and of glucose-6-phosphate dehydrogenase [G-6-PD] deficiency phenotypes in the different areas and to relate them to malaria endemicity. The sickle cell gene was encountered in each of the areas investigated at frequencies ranging from 0.015 in Yanbu to 0.115 in AI-Qunfuda. The normal G-6-PD in each region was G-6-PD-B+, and variants identified included G-6-PD-A+, G-6-PD-A-, G-6-PD-Mediterranean and G-6-PD-Weak. Severe G-6-PD deficiency was encountered in each region and was caused mainly by G-6-PD-Mediterranean at frequencies ranging from 0.0179 to 0.204 in the male population and 0.0064 to 0.1158 in the female population. This paper shows significant differences in the frequencies of G-6-PD phenotypes and Hb S genes within malaria endemic regions

Freuencia de la hemoglobinopatía "s" en una muestra de población de la raza negra en Trujillo, Colón / Hemoglobinopathy \"s\" frequency in a population sample of the black race in Trujillo, Colón

Se realizó un estudio descriptivo, transversal y de prevalencia para la deteminación de la frecuencia de la hemoglobinopatía "S" (Hb S) en la población de raza negra que acudió al Hospital Paredes de Trujillo, Colón, de Septiembre de 1990 a Marzo de 1991. Se muestrearon a un total de 829 pacientes de dicha raza distribuidos de la siguiente manera: 266 (32.09//) correspondieron al sexo masculino y 563 (67.91//) al sexo femenino; El mayor porcentaje de pacientes estudiados estaba comprendido entre los 1 y los 29 años de edad con 648 (78.17//) muestras. A todas las muestras se les practicó la prueba de inducción de drepanocitos con metabisulfito de sodio encontrándose un total de 69 (8.32//) muestras positivas a las cuales posteriormente se les realizaron hemolizados con tolueno y luego la prueba de electroforesis de hemoglobina en acetato de celulosa. De las 69 muestras, 54(6.51//) presentaban alteraciones en sus patrones electroforéticos correspondiendo 44 (5.30//) a la hemoglobinopatía SA (HB SA), 9 (1.08//) a la hemoglobinopatía SS (Hb SS) y 1 (0.12//) a la hemoglobinopatía doble heterocigota SC (Hb SC). Los 15 casos restantes presentaron patrones electroforáticos normales