Consulta: creatorFacets:"Icasuriaga,Sandra"
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Data/hora: 09/06/2024 12:36:43

Frequency and spectrum of hemoglobinopathy mutations in a Uruguayan pediatric population
Provedor de dados: 74
Autores: 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