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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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| Kimura,Elza M.; Oliveira,Denise M.; Fertrin,Kleber; Pinheiro,Valéria R.; Jorge,Susan E.D.C.; Costa,Fernando F.; Sonati,Maria de Fátima. |
| Hb H Disease is caused by the loss or inactivation of three of the four functional a-globin genes. Patients present chronic hemolytic anemia and splenomegaly. In some cases, occasional blood transfusions are required. Deletions are the main cause of this type of thalassemia (α-thalassemia). We describe here an unusual case of Hb H disease caused by the combination of a common αº deletion [-(α)20.5] with a rare point mutation (c.427T > A), thus resulting in an elongated and unstable α-globin variant, Hb Icaria, (X142K), with 31 additional amino-acid residues. Very high levels of Hb H and Hb Bart's were detected in the patient's red blood cells (14.7 and 19.0%, respectively). This is the first description of this infrequent association in the Brazilian... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Hereditary hemoglobinopathies; Alpha-thalassemia; Hb H disease; Hb Icaria. |
| Ano: 2009 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572009000400007 |
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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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