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Prevalence of α-thalassemia 3.7 kb deletion in the adult population of Rio Grande do Norte, Brazil
α-Thalassemia, arising from a defect in α-globin chain synthesis, is often caused by deletions involving one or both of the α-genes on the same allele. With the aim of investigating the prevalence of α-thalassemia 3.7 kb deletion in the adult population of Rio Grande do Norte, 713 unrelated individu...
Autores principales: | , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Sociedade Brasileira de Genética
2012
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3459408/ https://www.ncbi.nlm.nih.gov/pubmed/23055797 http://dx.doi.org/10.1590/S1415-47572012005000049 |
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author | de Medeiros Alcoforado, Gustavo Henrique Bezerra, Christiane Medeiros Araújo Moura Lemos, Telma Maria de Oliveira, Denise Madureira Kimura, Elza Miyuki Ferreira Costa, Fernando de Fátima Sonati, Maria de Medeiros, Tereza Maria Dantas |
author_facet | de Medeiros Alcoforado, Gustavo Henrique Bezerra, Christiane Medeiros Araújo Moura Lemos, Telma Maria de Oliveira, Denise Madureira Kimura, Elza Miyuki Ferreira Costa, Fernando de Fátima Sonati, Maria de Medeiros, Tereza Maria Dantas |
author_sort | de Medeiros Alcoforado, Gustavo Henrique |
collection | PubMed |
description | α-Thalassemia, arising from a defect in α-globin chain synthesis, is often caused by deletions involving one or both of the α-genes on the same allele. With the aim of investigating the prevalence of α-thalassemia 3.7 kb deletion in the adult population of Rio Grande do Norte, 713 unrelated individuals, between 18 and 59 years-of-age, were analyzed. Red blood cell indices were electronically determined, and A(2) and F hemoglobins evaluated by HPLC. PCR was applied to the molecular investigation of α-thalassemia 3.7 kb deletion. Eighty (11.2%) of the 713 individuals investigated presented α-thalassemia, of which 79 (11.1%) were heterozygous (-α(3.7)/αα) deletions and 1 (0.1%) homozygous (-α(3.7)/-α(3.7)). Ethnically, heterozygous deletions were higher (24.8%) in Afro-Brazilians. Comparison of hematological parameters between individuals with normal genotype and those with heterozygous α(+)-thalassemia showed a statistically significant difference in the number of erythrocytes (p < 0.001), MCV (p < 0.001), MCH (p < 0.001) and Hb A(2) (p = 0.007). This study is one of the first dedicated to investigating α-thalassemia 3.7 kb deletion in the population of the State Rio Grande do Norte state. Results obtained demonstrate the importance of investigating this condition in order to elucidate the causes of microcytosis and hypochromia. |
format | Online Article Text |
id | pubmed-3459408 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2012 |
publisher | Sociedade Brasileira de Genética |
record_format | MEDLINE/PubMed |
spelling | pubmed-34594082012-10-10 Prevalence of α-thalassemia 3.7 kb deletion in the adult population of Rio Grande do Norte, Brazil de Medeiros Alcoforado, Gustavo Henrique Bezerra, Christiane Medeiros Araújo Moura Lemos, Telma Maria de Oliveira, Denise Madureira Kimura, Elza Miyuki Ferreira Costa, Fernando de Fátima Sonati, Maria de Medeiros, Tereza Maria Dantas Genet Mol Biol Human and Medical Genetics α-Thalassemia, arising from a defect in α-globin chain synthesis, is often caused by deletions involving one or both of the α-genes on the same allele. With the aim of investigating the prevalence of α-thalassemia 3.7 kb deletion in the adult population of Rio Grande do Norte, 713 unrelated individuals, between 18 and 59 years-of-age, were analyzed. Red blood cell indices were electronically determined, and A(2) and F hemoglobins evaluated by HPLC. PCR was applied to the molecular investigation of α-thalassemia 3.7 kb deletion. Eighty (11.2%) of the 713 individuals investigated presented α-thalassemia, of which 79 (11.1%) were heterozygous (-α(3.7)/αα) deletions and 1 (0.1%) homozygous (-α(3.7)/-α(3.7)). Ethnically, heterozygous deletions were higher (24.8%) in Afro-Brazilians. Comparison of hematological parameters between individuals with normal genotype and those with heterozygous α(+)-thalassemia showed a statistically significant difference in the number of erythrocytes (p < 0.001), MCV (p < 0.001), MCH (p < 0.001) and Hb A(2) (p = 0.007). This study is one of the first dedicated to investigating α-thalassemia 3.7 kb deletion in the population of the State Rio Grande do Norte state. Results obtained demonstrate the importance of investigating this condition in order to elucidate the causes of microcytosis and hypochromia. Sociedade Brasileira de Genética 2012 2012-07-26 /pmc/articles/PMC3459408/ /pubmed/23055797 http://dx.doi.org/10.1590/S1415-47572012005000049 Text en Copyright © 2012, Sociedade Brasileira de Genética. License information: This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | Human and Medical Genetics de Medeiros Alcoforado, Gustavo Henrique Bezerra, Christiane Medeiros Araújo Moura Lemos, Telma Maria de Oliveira, Denise Madureira Kimura, Elza Miyuki Ferreira Costa, Fernando de Fátima Sonati, Maria de Medeiros, Tereza Maria Dantas Prevalence of α-thalassemia 3.7 kb deletion in the adult population of Rio Grande do Norte, Brazil |
title | Prevalence of α-thalassemia 3.7 kb deletion in the adult population of Rio Grande do Norte, Brazil |
title_full | Prevalence of α-thalassemia 3.7 kb deletion in the adult population of Rio Grande do Norte, Brazil |
title_fullStr | Prevalence of α-thalassemia 3.7 kb deletion in the adult population of Rio Grande do Norte, Brazil |
title_full_unstemmed | Prevalence of α-thalassemia 3.7 kb deletion in the adult population of Rio Grande do Norte, Brazil |
title_short | Prevalence of α-thalassemia 3.7 kb deletion in the adult population of Rio Grande do Norte, Brazil |
title_sort | prevalence of α-thalassemia 3.7 kb deletion in the adult population of rio grande do norte, brazil |
topic | Human and Medical Genetics |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3459408/ https://www.ncbi.nlm.nih.gov/pubmed/23055797 http://dx.doi.org/10.1590/S1415-47572012005000049 |
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