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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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| 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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