Título:
Alpha thalassemia and alpha-MRE haplotypes in Uruguayan patients with microcytosis and hypochromia without anemia
Otros títulos:
Coordinador:
Director:
Compilador:
Autor:
Soler, Ana Maria
Piellusch, Bruna Facanali
da Silveira, Lorena
Pedroso, Gisele Audrei
López, Pablo
Savio, Enrique
Sonati, María de Fatima
da Luz, Julio
Piellusch, Bruna Facanali
da Silveira, Lorena
Pedroso, Gisele Audrei
López, Pablo
Savio, Enrique
Sonati, María de Fatima
da Luz, Julio
Tutor:
Tipo de documento:
Artículo
Editor:
Palabras clave:
Alpha thalassemia
Alpha-MRE
Microcytosis
Hipochromia
Alpha-MRE
Microcytosis
Hipochromia
Descriptores:
TALASEMIA ALFA
GLOBINAS ALFA
GENÉTICA
ADN
ERITROCITOS
GLOBINAS ALFA
GENÉTICA
ADN
ERITROCITOS
Año de publicación:
2021
Contenido:
Resumen:
Alpha thalassemia is the most common genetic disorder across the world, being the α-3.7 deletion the most frequent mutation. In order to analyze the spectrum and origin of alpha thalassemia mutations in Uruguay, we obtained a sample of 168 unrelated outpatients with normal hemoglobin levels with microcytosis and hypochromia from two cities: Montevideo and Salto. The presence of α-thalassemia mutations was investigated by gap-PCR, restriction endonucleases analysis and HBA2 and HBA1 genes sequencing, whereas the alpha-MRE haplotypes were investigated by sequencing. We found 55 individuals (32.7%) with α-thalassemia mutations, 51(30.4%) carrying the -α3.7 deletion, one with the -α4.2 deletion and three having the rare punctual mutation HBA2:c.-59C>T. Regarding alpha-MRE analysis, we observed a significant higher frequency of haplotype D, characteristic of African populations, in the sample with the -α3.7 deletion. These results show that α-thalassemia mutations are an important determinant of microcytosis and hypochromia in Uruguayan patients with microcytosis and hypochromia without anemia, mainly due to the -α3.7 deletion. The alpha-MRE haplotypes and the α-thalassemia mutations spectrum suggest a predominant, but not exclusive, African origin of these mutations in Uruguay.
Descripción:
metadata.articulos.dc.description.uri:
Editorial:
Sociedade Brasileira de Genética
EN:
Genetics and Molecular Biology. 2021;44(2)
Financiadores:
Citación:
Soler A, Piellusch B, da Silveira L y otros. Alpha thalassemia and alpha-MRE haplotypes in Uruguayan patients with microcytosis and hypochromia without anemia. Genetics and Molecular Biology [en línea]. 2021;44(2)
Citación:
metadata.articulos.cc.license.name:
ISBN:
e-ISBN:
ISSN:
ISMN:
Otros identificadores:
Cobertura geográfica:
URUGUAY
Cobertura temporal:
Departamento académico:
Grupo de investigación:
Licencia:
Licencia Creative Commons Atribución (CC - By 4.0)
Colecciones:
| Ficheros | Descripción | Tamaño | Formato | ||
|---|---|---|---|---|---|
| Alpha thalassemia and alpha MRE haplotypes.pdf | Alpha thalassemia and alpha MRE haplotypes | 4.25 MB | Adobe PDF |