Consulta: creatorFacets:"Sonati,Maria de Fatima"
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Data/hora: 09/06/2024 07:47:36

Rare α0-thalassemia deletions detected by MLPA in five unrelated Brazilian patients
Provedor de dados: Genetics and Molecular Biology
Autores: Mota,Natália O.; Kimura,Elza M.; Ferreira,Roberta D.; Pedroso,Gisele A.; Albuquerque,Dulcinéia M.; Ribeiro,Daniela M.; Santos,Magnun N. N.; Bittar,Cristina M.; Costa,Fernando F.; Sonati,Maria de Fatima.
Abstract Alpha-thalassemias are among the most common genetic diseases in the world. They are characterized by hypochromic and microcytic anemia and great clinical variability, ranging from a practically asymptomatic phenotype to severe anemia, which can lead to intrauterine or early neonatal death. Deletions affecting the α-globin genes, located on chromosome 16p13.3, are the main causes of α-thalassemia. Multiplex ligation-dependent probe amplification (MLPA) can be used to detect rearrangements that cause α-thalassemia, particularly large deletions involving the whole α cluster and/or deletions in the HS-40 region. Here, MLPA was used to investigate the molecular basis of α-thalassemia in five unrelated patients, three of whom had Hb H disease. In...
Tipo: Info:eu-repo/semantics/article
Palavras-chave: Α-Thalassemia; Hb H disease; Multiplex ligation-dependent probe amplification; MLPA; Brazilian population.
Ano: 2017
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572017000500768

alpha-thalassemia, HbS, and beta-globin gene cluster haplotypes in two Afro-Uruguayan sub-populations from northern and southern Uruguay
Provedor de dados: Genetics and Molecular Biology
Autores: 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