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	Provedor de dados BJMBR (2) Genet. Mol. Biol. (2) BJID (1) Autor Abdelmawla,Doaa (1) Albuquerque,Dulcinéia Martins (1) Almeida,Eduardo Alves de (1) Andrade,T.G. de (1) Araújo,João Targino de (1) Bonini-Domingos,C.R. (1) Bonini-Domingos,Claudia Regina (1) Cordeiro,J.A. (1) Costa,F.F. (1) Darwish,Ahmad (1) Estevão,I.F. (1) Fattori,A. (1) Ferreira,Paulo Roberto Santos (1) Jardim,A.C.G. (1) Leal,Francismar Prestes (1) Moemen,Dalia (1) Mowafy,Wafaa (1) Oliveira,T.M. (1) Pinho,J.R.R. (1) Rahal,P. (1) Mais... Palavra-chave Thalassemia (5) Antioxidants (1) C282Y (1) Globin genes (1) H63D (1) HFE (1) Hemoglobin Camperdown (1) Hemoglobinopathies (1) Hepatitis E virus (HEV) (1) Hereditary persistence of fetal hemoglobin (1) Melatonin (1) Prevalence (1) S65C (1) Sicilian thalassemia (1) Sickle cell (1) Sickle cell disease (1) Transfusion (1) Mais... Tipo do documento Info:eu-repo/semantics/article (3) Info:eu-repo/semantics/other (2) Ano 2019 (1) 2015 (1) 2006 (1) 2005 (1) 2002 (1) País Brazil (5) Idioma Inglês (5)		Ordenar por:  Relevância Autor Título Ano Registros recuperados: 5 Primeira ... 1 ... Última Camperdown hemoglobin associated with beta° thalassemia in a Brazilian child Genet. Mol. Biol. Tozetto-Mendoza,Tania Regina; Ferreira,Paulo Roberto Santos; Viviani,Nilcéia Maria; Albuquerque,Dulcinéia Martins; Rizzi,Ivana; Araújo,João Targino de. We report the coexistence of Hb Camperdown [beta104 (G6) Arg -> Ser] and beta°-thalassemia [beta39 (Gln -> stop codon)] in a nine-month-old Brazilian boy. He had a relatively more severe hypochromic and microcytic anemia in comparison to his mother's beta-thalassemia trait. His Hb Camperdown heterozygous father was clinically and hematologically normal. To our knowledge, this is the first description of an association of beta°-thalassemia with Hb Camperdown. Tipo: Info:eu-repo/semantics/other Palavras-chave: Hemoglobin Camperdown; Thalassemia. Ano: 2005 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572005000300010 Hepatitis E virus prevalence in Egyptian children with transfusion-dependent thalassemia BJID Abdelmawla,Doaa; Moemen,Dalia; Darwish,Ahmad; Mowafy,Wafaa. ABSTRACT Hepatitis E virus (HEV) infection is one of the major public health problems in developing countries. HEV can cause chronic infections in immunocompromised individuals e.g. thalassemic patients with increased risk of morbidity and mortality. In addition there is possibility of HEV transmission through blood transfusion. Therefore, the present study aimed to investigate the seroprevalence and risk factors of HEV infection in β-thalassemic children. Methods: This cross-sectional study was conducted on 140 Egyptian children suffering from β-thalassemia, attending the hematology outpatient clinic from April to October 2016. Serum samples from patients were collected and anti-HEV antibodies; Immunoglobulin G (IgG) and Immunoglobulin M (IgM)were... Tipo: Info:eu-repo/semantics/article Palavras-chave: Hepatitis E virus (HEV); Prevalence; Thalassemia; Transfusion. Ano: 2019 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1413-86702019000100040 HFE gene mutations in Brazilian thalassemic patients BJMBR Oliveira,T.M.; Souza,F.P.; Jardim,A.C.G.; Cordeiro,J.A.; Pinho,J.R.R.; Sitnik,R.; Estevão,I.F.; Bonini-Domingos,C.R.; Rahal,P.. Hereditary hemochromatosis is a disorder of iron metabolism characterized by increased iron intake and progressive storage and is related to mutations in the HFE gene. Interactions between thalassemia and hemochromatosis may further increase iron overload. The ethnic background of the Brazilian population is heterogeneous and studies analyzing the simultaneous presence of HFE and thalassemia-related mutations have not been carried out. The aim of this study was to evaluate the prevalence of the H63D, S65C and C282Y mutations in the HFE gene among 102 individuals with alpha-thalassemia and 168 beta-thalassemia heterozygotes and to compare them with 173 control individuals without hemoglobinopathies. The allelic frequencies found in these three groups were... Tipo: Info:eu-repo/semantics/article Palavras-chave: HFE; H63D; S65C; C282Y; Thalassemia. Ano: 2006 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2006001200008 Molecular identification of Sicilian (dß)º-thalassemia associated with ß-thalassemia and hemoglobin S in Brazil BJMBR Andrade,T.G. de; Fattori,A.; Saad,S.T.O.; Sonati,M.F.; Costa,F.F.. We describe the clinical and molecular characteristics of two unrelated Brazilian families with an association of the Sicilian form of (dß)º-thalassemia with hemoglobin S and ß-thalassemia. Direct sequencing of the ß-globin gene showed only the hemoglobin S mutation in patient 1 and the ß-thalassemia IVS1-110 in patient 2. The other allele was deleted in both patients and PCR of DNA samples of the breakpoint region of both patients showed a band of approximately 1,150 bp, expected to be observed in the DNA of carriers of Sicilian (dß)º-thalassemia. The nucleotide sequence of this fragment confirmed the Sicilian deletion. There are few reports concerning the Hb S/(dß)º-thalassemia association and patient 2 is the first reported case of Sicilian type of... Tipo: Info:eu-repo/semantics/other Palavras-chave: Thalassemia; Sickle cell; Hereditary persistence of fetal hemoglobin; Globin genes; Sicilian thalassemia. Ano: 2002 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2002000800003 Prevalence of βS-globin gene haplotypes, α-thalassemia (3.7 kb deletion) and redox status in patients with sickle cell anemia in the state of Paraná, Brazil Genet. Mol. Biol. Shimauti,Eliana LitsukoTomimatsu; Silva,Danilo Grunig Humberto; Souza,Eniuce Menezes de; Almeida,Eduardo Alves de; Leal,Francismar Prestes; Bonini-Domingos,Claudia Regina. The aim of this study was to determine the frequency of beta S-globin gene (βS globin) haplotypes and alpha thalassemia with 3.7 kb deletion (−α3.7kb thalassemia) in the northwest region of Paraná state, and to investigate the oxidative and clinical-hematological profile of βS globin carriers in this population. Of the 77 samples analyzed, 17 were Hb SS, 30 were Hb AS and 30 were Hb AA. The βSglobin haplotypes and −α3.7kb thalassemia were identified using polymerase chain reaction.Trolox equivalent antioxidant capacity (TEAC) and lipid peroxidation (LPO) were assessed spectophotometrically. Serum melatonin levels were determined using high-performance liquid chromatography coupled to coulometric electrochemical detection. The haplotype frequencies in the... Tipo: Info:eu-repo/semantics/article Palavras-chave: Antioxidants; Hemoglobinopathies; Melatonin; Sickle cell disease; Thalassemia. Ano: 2015 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572015000300316 Registros recuperados: 5 Primeira ... 1 ... Última

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