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| Registros recuperados: 11 | |
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| Luz,Julio A. da; Sans,Mónica; Kimura,Elza Miyuki; Albuquerque,Dulcinéia Martins; Sonati,Maria de Fatima; Costa,Fernando Ferreira. |
| Hemoglobinopathies are the most common monogenic disorders worldwide; however, they have never been systematically studied from a genetic perspective in Uruguay. In this study, we determined the frequencies of hemoglobin variants in Afro-Uruguayans. A sample of 52 healthy unrelated Afro-Uruguayans from the northern (N = 28) and southern (N = 24) regions of the country was analyzed. Eight individuals (15.4%) were heterozygous for -alpha3,7thalassemia; seven of them (29.2%) were originally from the southern region, whereas one of them (3.6%) was from the northern region; the differences between both regions were statistically significant (p = 0.016 +/-0.003). The only structural mutation detected was betaS, which is typical of African populations. Four... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Hemoglobinopathies; Alpha-thalassemias; HbS; Haplotypes; Afro-derived populations. |
| Ano: 2006 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572006000400002 |
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| Silveira,Zama Messala Luna da; Barbosa,Maria das Vitórias; Fernandes,Thales Allyrio Araújo de Medeiros; Kimura,Elza Miyuki; Costa,Fernando Ferreira; Sonati,Maria de Fátima; Rebecchi,Ivanise Marina Moretti; Medeiros,Tereza Maria Dantas de. |
| 35 unrelated individuals were studied for characterization as either heterozygous or homozygous for beta-thalassemia. Molecular analysis was done by PCR/RFLP to detect the mutations most commonly associated with beta-thalassemia (β0IVS-I-1, β+IVS-I-6, and β039). In the patients who showed none of these mutations, the beta-globin genes were sequenced. Of the 31 heterozygous patients, 13 (41.9%) had the β+IVS-I-6 mutation, 15 (48.4%) the β0IVS-I-1 mutation, 2 (6.5%) the β+IVS-I-110 mutation and 1 (3.2%) the β+IVS-I-5 mutation. IVS-I-6 was detected in the four homozygotes. The mutation in codon 39, often found in previous studies in Brazil, was not detected in the present case. This is the first study aiming at identifying mutations that determine... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Hereditary hemoglobinopathies; Beta-thalassemia; Mutations; PCR-RFLP; Brazilian population. |
| Ano: 2011 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572011000300010 |
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| Cabral,Cynthia Hatsue Kitayama; Serafim,Édvis Santos Soares; Medeiros,Waleska Rayane Dantas Bezerra de; Fernandes,Thales Allyrio Araújo de Medeiros; Kimura,Elza Miyuki; Costa,Fernando Ferreira; Sonati,Maria de Fátima; Rebecchi,Ivanise Marina Moretti; Medeiros,Tereza Maria Dantas de. |
| βS haplotypes were studied in 47 non-related patients with sickle-cell anemia from the state of Rio Grande do Norte, Brazil. Molecular analysis was conducted by PCR/RFLP using restriction endonucleases XmnI, HindIII, HincII and HinfI to analyze six polymorphic sites from the beta cluster. Twenty-seven patients (57.5%) were identified with genotype CAR/CAR, 9 (19.1%) CAR/BEN, 6 (12.8%) CAR/CAM, 1 (2.1%) BEN/BEN, 2 (4.3%) CAR/Atp, 1 (2.1%) BEN/Atp and 1 (2.1%) with genotype Atp/Atp. The greater frequency of Cameroon haplotypes compared to other Brazilian states suggests the existence of a peculiarity of African origin in the state of Rio Grande do Norte. |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Haplotypes; Β-globin; Sickle-cell anemia; Brazilian population; S hemoglobin. |
| Ano: 2011 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572011000300009 |
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| Luz,Julio Da; Ávila,Amalia; Icasuriaga,Sandra; Gongóra,María; Castillo,Luis; Serrón,Alejandra; Kimura,Elza Miyuki; Costa,Fernando Ferreira; Sans,Mónica; Sonati,Maria de Fátima. |
| Hemoglobinopathies are the most common recessive diseases worldwide but their prevalence in Uruguay has not been investigated. In this study, 397 unrelated outpatient children from the Pereira Rosell Hospital Center (CHPR), as well as 31 selected patients with microcytic anemia and 28 β-thalassemia carriers were analyzed for hemoglobinopathies by using biochemical and molecular biology methods. Parametric and non-parametric methods were used to compare the hematological indices between groups of genotypes. Of the 397 patients in the first group, approximately 1% (0.76% HbS and 0.25% β-thalassemia) had a mutation in the HBB gene and 3.3% had α-thalassemia. These mutations had a heterogeneous distribution that varied according to individual ancestry. HbS was... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Alpha-globin; Beta-globin; Hemoglobinopathies; Uruguayan population. |
| Ano: 2013 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572013000300003 |
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| Monte-Mór,Bárbara da Costa Reis; Cunha,Anderson Ferreira da; Pagnano,Kátia Bórgia Barbosa; Saad,Sara Terezinha; Lorand-Metze,Irene; Costa,Fernando Ferreira. |
| Polycythemia vera (PV), essential thrombocythemia (ET) and idiopathic myelofibrosis (IMF) are myeloproliferative disorders (MPD) that arise from the clonal proliferation of a pluripotent hematopoietic progenitor, leading to the overproduction of one or more myeloid lineages. Recently, a specific mutation in the JAK2 gene, which encodes a tyrosine kinase, has been shown to be associated with the myeloproliferative phenotype observed in PV, ET and IMF. In this study of Brazilian patients, the JAK2 V617F mutation [c.1887G > T) was detected in four out of 49 patients with PV (96%), 14 out of 25 patients with IMF (56%), and in eight out of 29 patients with ET, which is in accordance with previous screenings of this mutation in other populations. |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: JAK2 V617F; Myeloproliferative disorders; Polycythemia vera; Idiopathic myelofibrosis; Essential thrombocythemia. |
| Ano: 2007 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572007000300006 |
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| Rodriguez,David Enrique Aguilar; Lima,Carmen Silvia Passos; Lourenço,Gustavo Jacob; Figueiredo,Maria Estela; Carneiro,Jorge David Aivazoglu; Tone,Luiz Gonzaga; Llerena Jr.,Juan Clinton; Toscano,Raquel Alves; Brandalise,Silvia; Pinto Júnior,Walter; Costa,Fernando Ferreira; Bertuzzo,Carmen Sílvia. |
| Fanconi anaemia (FA) is a recessive autosomal disease determined by mutations in genes of at least eleven complementation groups, with distinct distributions in different populations. As far as we know, there are no reports regarding the molecular characterisation of the disease in unselected FA patients in Brazil. OBECTIVE: This study aimed to investigate the most prevalent mutations of FANCA and FANCC genes in Brazilian patients with FA. METHODS: Genomic DNA obtained from 22 racially and ethnically diverse unrelated FA patients (mean age ± SD: 14.0 ± 7.8 years; 10 male, 12 female; 14 white, 8 black) was analysed by polymerase chain reaction and restriction site assays for identification of FANCA (delta3788-3790) and FANCC (delta322G, IVS4+4A -> T,... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Fanconi anaemia; DEB test; Molecular diagnosis; FANCA; FANCC. |
| Ano: 2005 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572005000200004 |
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| Lima,Carmen Silvia Passos; Lourenço,Gustavo Jacob; Lorand-Metze,Irene; Nascimento,Helvia; Saad,Sara Teresinha Ollala; Costa,Fernando Ferreira. |
| Exposure to benzene has been associated with haematological diseases such as neutropenia (NEB) and acute myeloid leukaemia (AML). We tested whether the null genotypes of the GSTM1 and GSTT1 genes, involved in benzene inactivation, altered the risk for NEB in southeastern Brazil. Genomic DNA from 55 NEB patients and 330 controls was analysed by multiplex-polymerase chain reaction. The frequency of the GSTM1, GSTT1 and combined null genotypes was similar in patients and controls (GSTM1, 27.3% vs. 38.8%, p = 0.16; GSTT1, 25.5% vs. 19.7%, p = 0.24; GSTM1/GSTT1, 12.7% vs. 6.7%, p = 0.26; respectively). The distribution of genotype classes in NEB patients was similar to normal controls, suggesting that GSTM1 and GSTT1 null genotypes make no specific contribution... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Neutropenia; Glutathione S-transferase; GSTM1; GSTT1. |
| Ano: 2009 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572009000400006 |
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| Fattori,André; Kimura,Elza Miyuki; Albuquerque,Dulcinéia Martins de; Ogo,Satie Hatsushika; Stoppa,Graziela Renata; Martins,Juliana Touquinha; Lima,Carmen Silvia Passos; Saad,Sara Terezinha Ollala; Costa,Fernando Ferreira; Sonati,Maria de Fátima. |
| We report the clinical and laboratory findings concerning three unrelated Brazilian patients investigated for polycythemia, whose definitive diagnosis could only be established after the presence of Hb Coimbra (b99 Asp ® Glu) was demonstrated. This illustrates the importance of properly investigating hereditary hemoglobinopathies in cases of erythrocytosis because in some populations variants with high oxygen affinity may be more frequent than expected but go undetected when conventional electrophoresis is used as the sole detection procedure. |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Polycythemia; Erythrocytosis; Hb Coimbra; Beta-globin gene. |
| Ano: 2006 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572006000200002 |
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| Alcoforado,Gustavo Henrique de Medeiros; Bezerra,Christiane Medeiros; Lemos,Telma Maria Araújo Moura; Oliveira,Denise Madureira de; Kimura,Elza Miyuki; Costa,Fernando Ferreira; Sonati,Maria de Fátima; Medeiros,Tereza Maria Dantas de. |
| α-Thalassemia, arising from a defect in a-globin chain synthesis, is often caused by deletions involving one or both of the a-genes on the same allele. With the aim of investigating the prevalence of α-thalassemia 3.7 kb deletion in the adult population of Rio Grande do Norte, 713 unrelated individuals, between 18 and 59 years-of-age, were analyzed. Red blood cell indices were electronically determined, and A2 and F hemoglobins evaluated by HPLC. PCR was applied to the molecular investigation of α-thalassemia 3.7 kb deletion. Eighty (11.2%) of the 713 individuals investigated presented α-thalassemia, of which 79 (11.1%) were heterozygous (-α3.7/αα) deletions and 1 (0.1%) homozy- gous (-α3.7/-α3.7). Ethnically, heterozygous deletions were higher (24.8%) in... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Alpha-thalassemia; -α3.7 kb deletion; Brazilian population. |
| Ano: 2012 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572012000400008 |
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| Registros recuperados: 11 | |
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