title: The -(α)(5.2) Deletion Detected in a Uruguayan Family: First Case Report in the Americas.
abstract: In Uruguay, α-thalassemia (α-thal) mutations were introduced predominantly by Mediterranean European immigrant populations and by slave trade of African populations. A patient with anemia with hypochromia and microcytosis, refractory to iron treatment and with normal hemoglobin (Hb) electrophoresis was analyzed for α-thal mutations by multiplex gap-polymerase chain reaction (gap-PCR), automated sequencing and multiplex ligation-dependent probe amplification (MLPA) analyses. Agarose gel electrophoresis of the multiplex gap-PCR showed a band of unexpected size (approximately 700 bp) in the samples from the proband and mother. Automated sequencing of the amplified fragment showed the presence of the -(α)(5.2) deletion (NG_000006.1: g.32867_38062del5196) [an α-thal-1 deletion of 5196 nucleotides (nts)]. The MLPA analysis of the proband's sample also showed the presence of the -(α)(5.2) deletion in heterozygous state. We report here the presence of the -(α)(5.2) deletion, for the first time in the Americas, in a Uruguayan family with Italian ancestry, detected with a previously described multiplex gap-PCR.
authors: a Laboratorio De Genética Molecular Humana , Centro Universitario Regional (CENUR) Litoral Norte-Sede Salto, Universidad De La República , Salto , Uruguay.
authors: Ana María
authors: AM
authors: Soler
authors: b Servicio De Hemato-Oncología Pediátrica, Centro Hospitalario Pereira Rosell , Montevideo , Uruguay.
authors: Magdalena
authors: M
authors: Schelotto
authors: c Departamento De Patología Clinica , Faculdade De Ciências Médicas, Universidade De Campinas , São Paulo , Brazil.
authors: Natalia
authors: N
authors: de Oliveira Mota
authors: c Departamento De Patología Clinica , Faculdade De Ciências Médicas, Universidade De Campinas , São Paulo , Brazil.
authors: Roberta
authors: R
authors: Dorta Ferreira
authors: c Departamento De Patología Clinica , Faculdade De Ciências Médicas, Universidade De Campinas , São Paulo , Brazil.
authors: Maria de Fatima
authors: Mde F
authors: Sonati
authors: a Laboratorio De Genética Molecular Humana , Centro Universitario Regional (CENUR) Litoral Norte-Sede Salto, Universidad De La República , Salto , Uruguay.
authors: Julio Abayubá
authors: JA
authors: da Luz
mesh_terms: D000569:Americas; D000747:Anemia, Hypochromic / Q000235:genetics; D005260:Female; D006579:Heterozygote; D006801:Humans; D007558:Italy; D008297:Male; D010375:Pedigree; D016133:Polymerase Chain Reaction; D017384:Sequence Deletion; D014583:Uruguay; D017085:alpha-Thalassemia / Q000453:epidemiology / Q000235:genetics*
keywords: Keywords α-Thalassemia (α-thal); Uruguayan population; deletion; hemoglobinopathies; multiplex gap-polymerase chain reaction (gap-PCR)