title: Frequency and spectrum of hemoglobinopathy mutations in a Uruguayan pediatric population.
abstract: 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 β-thalassemia. These mutations had a heterogeneous distribution that varied according to individual ancestry. HbS was found exclusively in individuals with declared African ancestry and had a carrier frequency of 2.2%. The frequency of α-thalassemia carriers in outpatients of European and African ancestry was 1.2% and 6.5%, respectively. In contrast, the frequency of α-thalassemia carriers in patients with microcytic anemia was 25.8%, significantly higher (p < 0.01) than that observed in the sample as a whole and in Afro-descendants and Euro-descendants. Significant differences were observed in the hematological parameters between individuals with thalassemia genotypes and those with a normal genotype. These results indicate that hemoglobinopathies are a relevant health problem in Uruguay.
authors.affiliation: Departamento de Genética, Facultad de Medicina, Universidad de la República, Montevideo, Uruguay .
authors.forename: Julio Da
authors.initials: JD
authors.lastname: Luz
authors.forename: Amalia
authors.initials: A
authors.lastname: Avila
authors.forename: Sandra
authors.initials: S
authors.lastname: Icasuriaga
authors.forename: María
authors.initials: M
authors.lastname: Gongóra
authors.forename: Luis
authors.initials: L
authors.lastname: Castillo
authors.forename: Alejandra
authors.initials: A
authors.lastname: Serrón
authors.forename: Elza Miyuki
authors.initials: EM
authors.lastname: Kimura
authors.forename: Fernando Ferreira
authors.initials: FF
authors.lastname: Costa
authors.forename: Mónica
authors.initials: M
authors.lastname: Sans
authors.forename: Maria de Fátima
authors.initials: Mde F
authors.lastname: Sonati
keywords: Uruguayan population; alpha-globin; beta-globin; hemoglobinopathies