alpha-thalassemia, HbS, and beta-globin gene cluster haplotypes in two Afro-Uruguayan sub-populations from northern and southern Uruguay

Autor(es)

Julio A. da Luz ^[1] ; Mónica Sans ^[2] ; Elza Miyuki Kimura ^[3] ; Dulcinéia Martins Albuquerque ^[4] ; Maria de Fatima Sonati ^[5] ; Fernando Ferreira Costa ^[6]

Afiliação do(s) autor(es)

^[1] Universidad de la República. Facultad de Medicina. Departamento de Genética - Uruguai

^[2] Universidad de la República. Facultad de Humanidades y Ciencias de la Educación. Sección Antropología Biológica - Uruguai

^[3] Universidade Estadual de Campinas. Faculdade de Ciências Médicas. Departamento de Patologia Clínica - Brasil

^[4] Universidade Estadual de Campinas. Hemocentro - Brasil

^[5] Universidade Estadual de Campinas. Faculdade de Ciências Médicas. Departamento de Patologia Clínica - Brasil

^[6] Universidade Estadual de Campinas. Hemocentro - Brasil

• Tipo de documento: Artigo Científico
• Fonte: GENETICS AND MOLECULAR BIOLOGY; v. 29, n. 4, p. 595-600, 2006-00-00.

Resumo

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 individuals (10%) were heterozygous for betaS, three of them (13.6%) from the South, and one (5.6%) from the North. The betaS haplotypes were analyzed in eight individuals: two were homozygous betaS/betaS, two were heterozygous betaS/betathal, and four were heterozygous betaS/betaª. This haplotype distribution (60% Bantu, 20% Benin, and 20% Bantu A2) is in agreement with historical records reporting a predominantly Bantu origin for the enslaved Africans brought to Uruguay. Even though this is a preliminary study, due to the small sample size, our results are suggestive of a relatively high incidence of hemoglobinopathies in the Afro-Uruguayan population. (AU)

• Processo FAPESP: 02/13801-7 - Alterações hereditárias das hemoglobinas: genética molecular, aspectos da evolução clínica e produção de animais transgênicos
• Beneficiário: Fernando Ferreira Costa
• Modalidade de apoio: Auxílio à Pesquisa - Temático