ABSTRACT
Introduction: Inherited hemoglobinopathies are common among African Blacks. In Buenaventura, a city on Colombias Pacific coast, where 92% of the population is Afro-Colombian, there are few published attempts to identify these disorders. Affected individuals require more health care due to higher morbidity and mortality. Early identification of these newborns followed by comprehensive care is important to reduce co-morbidities. Objective: To study newborns and establish the numbers at risk with a bloodspot screening method. This information will demonstrate to Public Health Authorities the need to provide care for this population. Methods: A cross-sectional descriptive study of a sample of 399 newborns (95% CI) where there is an expected prevalence of 10% of abnormal hemoglobins. Mothers in at least the 36th week of gestation, living in the urban area of Buenaventura, were used. Umbilical cord blood was drawn and specimens fixed on filter paper and stored at 4°C. Isoelectric focusing electrophoresis assays were used to separate the hemoglobins. The results were reported according to the identified hemoglobin as F, A, S, C, D, and G. Results: We processed 399 samples, 353 (88.5%) were normal (hemoglobin FA), 23 (5.8%) were heterozygous for hemoglobin C (FAC), 19 (4.8%) were heterozygous for hemoglobin S (FAS), 2 (0.5%) were heterozygous for hemoglobin G (FAG), 1 was heterozygous for hemoglobin D (FAD) and 1 was heterozygous combined S and C (FSC). Conclusion: Hemoglobins S, C, D, and G are common among infants born in Buenaventura. Hemoglobin C occurred more frequently than in other reported studies. This study suggests that both detection and a follow-up program are required in areas with a high density of Afro-Colombian population.
Introducción: Las hemoglobinopatías son entidades muy frecuentes en el África negra. En Buenaventura, ciudad de la costa pacífica colombiana con una población 92% afrocolombiana, hay pocas publicaciones identificando esta patología. Las poblaciones afectadas requieren cuidados especiales por su alta mortalidad y morbilidad. La identificación temprana desde el periodo neonatal y los programas de cuidado integral se imponen en poblaciones de alta prevalencia. Objetivo: Determinar la prevalencia en Buenaventura de hemoglobinas S, C, D y G con un modelo de tamizaje neonatal. La información colectada servirá para sustentar recomendaciones a las autoridades de salud pública. Metodología: Se realizó un estudio descriptivo de corte transversal en 399 neonatos para una prevalencia esperada del 10% (IC 95%), con madres residentes del área urbana de Buenaventura y 36 semanas o más de gestación. Se tomó muestra de sangre de cordón umbilical fijada en papel filtro y almacenada a 4°C. La técnica de electroforesis de punto isoeléctrico sirvió para la separación de las hemoglobinas. Los resultados se informaron de acuerdo a las hemoglobinas identificadas F, A, S, C, D y G.Resultados: Se procesaron 399 muestras de cordón. El 88.5% (353) de las muestras fueron normales (hemoglobina FA), 23 (5.8%) fueron heterocigotos para hemoglobina C (FAC), 19 (4.8%) fueron heterocigotos para hemoglobina S (FAS), 2 (0.5%) fueron heterocigotos para hemoglobina G (FAG), 1 fue heterocigoto para hemoglobina D (FAD) y 1 fue heterocigoto combinado S y C (FSC). Conclusión: Hemoglobinas S, C, D y G son frecuentes entre los neonatos de Buenaventura. La hemoglobina C fue más frecuente que en estudios previos, probablemente por sesgos en la selección de la muestra de dichos estudios. Se sugiere a las autoridades de salud pública la ampliación del programa de tamizaje de enfermedades congénitas como las hemoglobinopatías.
Subject(s)
Infant, Newborn , Infant , Anemia, Sickle Cell , Electrophoresis , Hemoglobin C , Hemoglobin, Sickle , Hemoglobinopathies/ethnology , Infant, Newborn , Prevalence , Black People , ColombiaABSTRACT
A hemoglobina C (Hb C) é originária do oeste da África e é detectada por migração lenta na eletroforese alcalina em acetato de celulose. Consiste na mutação do gene da globina beta no códon 6 (GAG-AAG), resultando na substituição do sexto aminoácido da cadeia beta da hemoglobina humana, o ácido glutâmico, pelo aminoácido lisina. A cromatografia de alto desempenho (HPLC) separa completamente as frações C e A2, permitindo caracterizar a presença da interação com talassemia beta. Esta entidade (Hb CC, em homozigoze) é considerada benigna em relação à doença falciforme, já que a falcização não faz parte de sua fisiopatologia. A raridade do diagnóstico C homozigoto e C talassemia beta nos pacientes portadores de hemoglobinopatias nos alertou para a necessidade de se conhecer melhor e estudar aspectos clínicos e hematológicos dos casos dessa mutação em homozigose e na interação com a talassemia beta no ambulatório de anemias do Centro Regional de Hematologia e Hemoterapia de Ribeirão Preto, SP, Brasil.
Hemoglobin C (Hb C) originated in the west of Africa and is detected by alkaline electrophoresis by slow migration in cellulose acetate. It consists of a mutation of the beta globin gene in codon 6 (GAG-AAG), resulting in a substitution of glutamic acid, the sixth amino acid of the beta string of the human hemoglobin, for lysine. High performance chromatography (HPLC) separates the C and A2 fractions completely, allowing the characterization of the presence of interactions with thalassemia beta. This entity (Hb CC) is considered benign in respect to sickle cell disease, as sickle cells are not part of its physiopathology. The rarity of the diagnosis of homozygous C and beta thalassemia in patients with hemoglobinopathies showed the necessity of studying clinical and hematologic aspects of the cases of this mutation in homozygosis carriers and the interaction with beta thalassemia in the anemias clinic of the Regional Blood Center in Ribeirao Preto, SP, Brazil.
Subject(s)
Humans , Male , Female , Infant, Newborn , Child, Preschool , Child , Adolescent , Adult , Middle Aged , beta-Thalassemia , Chromatography , Hemoglobin C , HemoglobinopathiesABSTRACT
As hemoglobinopatias constituem um grupo de doenças de caráter genético caracterizadas pela síntese de cadeias polipeptídicas estruturalmente anormais ou diminuição da síntese de uma ou mais cadeias de globina. Dentre as variantes estruturais da hemoglobina, ou hemoglobinas anormais, as mais comuns são as hemoglobinas S e C resultantes da substituição de um único aminoácidona cadeia polipeptídica beta. O presente estudo teve como objetivo principal avaliar a prevalência de hemoglobinas anormais em militares. No período de março a junho de 2005, foram analisadas 418 amostras de sangue de militares de ambos os sexos, integrantesde três unidades militares da cidade de Natal, Rio Grande do Norte. O diagnóstico foi realizado mediante a realização de eletroforese de hemoglobina em pH alcalino e pH ácido e teste de solubilidade. A prevalência de variantes estruturais de hemoglobinafoi de 3,11 %, sendo 2,63 % para o traço falciforme (Hb AS) e 0,48 % para o genótipo AC. Não foram detectados indivíduos homozigotos para nenhum dos tipos de hemoglobinas variantes. Os resultados obtidos mostram a necessidade de triagem para detecção dehemoglobinas anormais em nossa população, permitindo a identificação dos portadores dessas alterações genéticas.
Subject(s)
Humans , Male , Female , Hemoglobin C , Hemoglobin, Sickle , Hemoglobins/analysis , Military Personnel , Prevalence , Sickle Cell TraitABSTRACT
Thalassemias are a heterogeneous group of inherited disorders characterized by a microcytic hypochromic anemia and an imbalance in the synthesis of the globin-chains. Hb C is the second most frequently variant of hemoglobin found in Brazil. The laboratory diagnosis of hemoglobinopathies, including thalassemias, is growing in importance, particularly because of an increasing requirement for neonatal diagnosis of abnormal hemoglobins. Screening tests were carried out using alkaline and acid electrophoresis, globin-chain analysis by cellulose acetate in alkaline pH, isoelectric focusing and HPLC. The molecular characterization was made by PCR-ASO for Hb C and beta thalassemia mutants. Large-scale screening and discriminative methodologies must provide information about the hemoglobin polymorphisms in Brazilian population. HPLC is a powerful tool in these cases. Molecular characterization is important to genetic counseling and clinical management, in particular for the Brazilian population that have an intense racial admixture, with great variability of hemoglobins. In this paper an association between Hb C and beta thalassemia (IVS-II-654) in a black family from Brazil was described
Subject(s)
Male , Female , Middle Aged , Humans , beta-Thalassemia , Hemoglobin C , Hematologic Tests/methods , PrevalenceSubject(s)
Humans , Male , Female , Thalassemia/epidemiology , Hospitals , alpha-Thalassemia , beta-Thalassemia , Hemoglobin C , Hemoglobin E , Hemoglobin, SickleABSTRACT
We studied 12 Hb C carriers: 4 homozygotic Hb CC and 8 heterozygotic. We observed the presence of free crystals in the peripheral blood of the homozygotes but in none of the heterozygotes. However, after incubation with 3 percent NaCl we were able to detect crystals in the heterozygotes (Hb AC and Hb SC), and in the homozygotes (Hb CC). In patient 04 (P04) less crystals formation occurred due to inhibition of the process by the presence of elevated levels of Hb F (12.2 percent). All the homozygotic patients had a splenomegaly of 3 to 6 fingerbreadths.We believe that the spleen wears off with time, thus allowing the passage of crystals to the peripheral blood. This finding might be associated with splenic insufficiency without a reduction of its dimensions. Finally, the finding of crystals in the peripheral blood permitted the diagnosis of Hb C obviating the need for electrophoresis
Subject(s)
Humans , Hemoglobin C Disease/diagnosis , Hemoglobin C/chemistry , Splenomegaly/blood , Crystallization , Electrophoresis, Agar Gel , Homozygote , Spleen/physiopathologyABSTRACT
Se ensayó una nueva técnica macrocromatográfica en carboximetilcelulosa y amortiguador imidazol-HCl-KCN-NaCl a pH 6,7. La técnica es confiable y exacta para la separación y cuantificación de hemoglobina A2 en individuos portadores de hemoglobina AC, Cb talasemia, hemoglobina AS y hemoglobina SC, lo cual es en muchos casos de interés clínico. También se detectó una variante de hemoglobina A2 en una embarazada portadora de hemoglobina AC y un gen b talasémico en Cis con el gen para la hemoglobina C
Subject(s)
Humans , Female , Pregnancy , Chromatography , Hemoglobin A2 , Hemoglobin CABSTRACT
Geographical hematology of Bernard and Ruffie, or Hemato-ser-anthropology, intends to establish relationships between hereditary genetic characters of the blood and human races. Blood groups, haptoglobins, abnormal hemoglobin and other biological traits such as color vision are related to the origin of human races, their geographical distribution, history, settlements drifts, invasions, customs, religious beliefs, cult to ancestors dead modifications, culture, language, writting, sculpture, painting and pottery. Our investigations are aimed to locate Chilean natives and natives from Easter Island in the context of human races
Subject(s)
Humans , Anthropology, Physical/history , Ethnicity/genetics , Polynesia/ethnology , Thalassemia/genetics , Hemoglobin C/history , Hemoglobin E/history , Hemoglobin, Sickle/history , Indians, South American/genetics , Chile/ethnology , Blood Group Antigens/geneticsABSTRACT
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.
Subject(s)
Humans , Male , Female , Pregnancy , Infant, Newborn , Infant , Child, Preschool , Child , Adolescent , Adult , Genetic Counseling , Health Programs and Plans , Hemoglobin C/analysis , Hemoglobin, Sickle/analysis , Hemoglobinopathies/blood , Heterozygote , Anemia, Sickle Cell/blood , beta-Thalassemia/blood , Brazil , Chronic Disease , Hemoglobin C Disease/blood , Prenatal Diagnosis , Simple Random SamplingABSTRACT
Blood specimens of 30 newly diagnosed diabetics and 50 normal subjects were analyzed for HbA[1C] and random sugar levels. The mean values of HbA[1C] and blood glucose were computed and coefficient of correlation [r] calculated. The value of r [+ 0.64] revealed a highly significant correlation between HbA[1C] and random blood sugar level [P < 0.01]. Thus HbA[1C] level is a useful indicator of the degree of hyperglycemia, which exists over a long period. Its measurement may serve as a screening test to identify those diabetics, who are in poor control. It is suggested that the determination of HbA[1C] can be considered as a good test for the diagnosis of diabetes mellitus and for the state of its control in diabetics in Pakistani environments
Subject(s)
Humans , Hemoglobin A , Hemoglobin C , Blood Glucose/analysis , InsulinABSTRACT
Se estudiaron algunas características cuantitativas sanguíneas en un grupo de heterocigotos AS y AC. Se encontró que cuando la concentración de HbS es menor que el 30%hay cambios cuantitativos en las constantes corpusculares, hemoglobina A2 y hemoglobina fetal con relación al grupo control, lo cual puede estar asociado al número de genes alfa ausentes en el individuo
Subject(s)
Fetal Hemoglobin/analysis , Hemoglobin A2/genetics , Hemoglobin C/genetics , Hemoglobin, Sickle/geneticsABSTRACT
En una familia del Cantón de Santa Cruz de Guanacaste, Costa Rica, fue posible demostrar la existencia de los dos primeros caso homocigotos reportados de deficiencia de piruvato quinasa, que se correspondieron con un cuadro de anemia hemolítica crónica no esferocítica. Los dos embarazos que ha tenido la propositus han resultado en una exacerbación de su problema hemolítico. El perfil enzimático, y en especial la razón PK/Hx, logró demostrar el carácter heterocigoto de los padres. En el padre y otro hijo no afectado enzimáticamente, se logró demostrar la coexistencia con Hb AC. (Rev. Cost. Cienc. Méd. 1988; 9(4):25-30
Subject(s)
Humans , Family Health , Hematologic Diseases , Hemoglobin C , Pyruvate Kinase , Costa RicaABSTRACT
The prevalences of abnormal hemoglobins and thalassemias depend largely upon the hereditary racial composition and geographic origins of the affected populations. In Central América and Panamá, where the racial and immigration patterns are highly varied, prevalences vary greatly from one country to another and even from one population group to another within a given country. Since literature on this problem is scanty, the review presented draws heavily upon fairly extensive information obtained from Costa Rican studies. Nevertheless, it has been supplemented with whatever data it has been possible to find on Panamá and other Central Américan countries. The sickle cell gene for hemoglobin S (Hb S) has not been found among the racially indigenous groups studied in Costa Rica and Panamá. However noteworthy prevalences of Hb S have been reported among Blacks and other population groups in Costa Rica, El Salvador, Guatemala, Honduras, and Panamá, with the heterozygous Hb S marker reaching a level of 30 per cent of one survey population in the latter country. In addition, the presence of the hemoglobin C marker has been reported in Costa Rica, Honduras, and Panamá; and the sickling syndromes- including heterozygous Hb SC, Hb S combined with Hb Korle-Bu, homozygous Hb S with alpha thalassemia, heterozygous Hb S with alpha (B+) thalassemia and Hb S with beta thalassemia (both B+ and Bo)- have been
Subject(s)
Hemoglobins, Abnormal/genetics , Thalassemia , Central America , Costa Rica , Hemoglobin C/genetics , Hemoglobin, Sickle/genetics , PanamaABSTRACT
As concentraçöes de hemoglobina fetal de 42 indivíduos com estigma para hemoglobina C e de cinco indivíduos com homozigose para hemoglobina C foram confrontadas com as concentraçöes de hemoglobina fetal de 47 indivíduos com homozigose para hemoglobina A. Os estigmas e homozigotos para hemoglobina C foram pareados com os homozigotos para hemoglobina A, através de sexo, idade, dosagem de hemoglobina total e hematócrito. Os homens com estigma para hemoglobina C (81,8%) apresentaram valores de hemoglobina fetal acima de 1% de anemia discreta, o mesmo näo se verificando com as mulheres com estigma para hemoglobina C
Subject(s)
Infant , Child, Preschool , Child , Adolescent , Adult , Middle Aged , Humans , Male , Female , Anemia/blood , Fetal Hemoglobin/analysis , Hemoglobin C/analysisSubject(s)
Child, Preschool , Child , Adolescent , Adult , Middle Aged , Humans , Male , Female , Glucosephosphate Dehydrogenase Deficiency/complications , Hemoglobin C/genetics , Hemoglobin, Sickle/genetics , Black People , Costa RicaABSTRACT
Säo analisados os resultados do hemograma de 990 indivíduos sem queixas clínicas, com homozigose para hemoglobina A (AA), com estigma para falcemia (AS) e com estigma para hemoglobina C (AC). Os estigmas para hemoglobina S têm hemotócrito, hemoglobina e contagem de hémacias com valores diferentes dos indivíduos AA. Os AC apresentam para estes mesmos exames valores semelhantes aos dos AA. Na contagem global de leucócitos näo existem diferenças significativas entre os AA, AS e AC