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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...
Autores principales: | , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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Sociedade Brasileira de Genética
2021
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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. |
format | Online Article Text |
id | pubmed-7995682 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2021 |
publisher | Sociedade Brasileira de Genética |
record_format | MEDLINE/PubMed |
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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