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Alpha thalassemia and alpha-MRE haplotypes in Uruguayan patients with microcytosis and hypochromia without anemia

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 m...

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Autores principales: Soler, Ana María, Piellusch, Bruna Facanali, da Silveira, Lorena, Pedroso, Gisele Audrei, López, Pablo, Savio, Enrique, Sonati, María de Fatima, da Luz, Julio
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Sociedade Brasileira de Genética 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7995682/
https://www.ncbi.nlm.nih.gov/pubmed/33769430
http://dx.doi.org/10.1590/1678-4685-GMB-2020-0399
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author Soler, Ana María
Piellusch, Bruna Facanali
da Silveira, Lorena
Pedroso, Gisele Audrei
López, Pablo
Savio, Enrique
Sonati, María de Fatima
da Luz, Julio
author_facet Soler, Ana María
Piellusch, Bruna Facanali
da Silveira, Lorena
Pedroso, Gisele Audrei
López, Pablo
Savio, Enrique
Sonati, María de Fatima
da Luz, Julio
author_sort Soler, Ana María
collection PubMed
description 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 -α(3.7) deletion, one with the -α(4.2) 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 -α(3.7) 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 -α(3.7) deletion. The alpha-MRE haplotypes and the α-thalassemia mutations spectrum suggest a predominant, but not exclusive, African origin of these mutations in Uruguay.
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spelling pubmed-79956822021-03-31 Alpha thalassemia and alpha-MRE haplotypes in Uruguayan patients with microcytosis and hypochromia without anemia Soler, Ana María Piellusch, Bruna Facanali da Silveira, Lorena Pedroso, Gisele Audrei López, Pablo Savio, Enrique Sonati, María de Fatima da Luz, Julio Genet Mol Biol Human and Medical Genetics 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 -α(3.7) deletion, one with the -α(4.2) 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 -α(3.7) 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 -α(3.7) deletion. The alpha-MRE haplotypes and the α-thalassemia mutations spectrum suggest a predominant, but not exclusive, African origin of these mutations in Uruguay. Sociedade Brasileira de Genética 2021-03-26 /pmc/articles/PMC7995682/ /pubmed/33769430 http://dx.doi.org/10.1590/1678-4685-GMB-2020-0399 Text en https://creativecommons.org/licenses/by/4.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution License
spellingShingle Human and Medical Genetics
Soler, Ana María
Piellusch, Bruna Facanali
da Silveira, Lorena
Pedroso, Gisele Audrei
López, Pablo
Savio, Enrique
Sonati, María de Fatima
da Luz, Julio
Alpha thalassemia and alpha-MRE haplotypes in Uruguayan patients with microcytosis and hypochromia without anemia
title Alpha thalassemia and alpha-MRE haplotypes in Uruguayan patients with microcytosis and hypochromia without anemia
title_full Alpha thalassemia and alpha-MRE haplotypes in Uruguayan patients with microcytosis and hypochromia without anemia
title_fullStr Alpha thalassemia and alpha-MRE haplotypes in Uruguayan patients with microcytosis and hypochromia without anemia
title_full_unstemmed Alpha thalassemia and alpha-MRE haplotypes in Uruguayan patients with microcytosis and hypochromia without anemia
title_short Alpha thalassemia and alpha-MRE haplotypes in Uruguayan patients with microcytosis and hypochromia without anemia
title_sort alpha thalassemia and alpha-mre haplotypes in uruguayan patients with microcytosis and hypochromia without anemia
topic Human and Medical Genetics
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7995682/
https://www.ncbi.nlm.nih.gov/pubmed/33769430
http://dx.doi.org/10.1590/1678-4685-GMB-2020-0399
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