Variantes de hemoglobina en una población con impresión diagnóstica positiva para hemoglobinopatías en Colombia

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dc.contributor.authorRomero-Sánchez, Consuelo
dc.contributor.authorGómez Gutiérrez, Alberto
dc.contributor.authorDuarte, Yurani
dc.contributor.authorAmazo, Constanza
dc.contributor.authorManosalva, Clara
dc.contributor.authorChila M, Lorena
dc.contributor.authorCasas-Gómez, María Consuelo
dc.contributor.authorBriceño Balcázar, Ignacio
dc.contributor.orcidRomero-Sánchez, Consuelo [0000-0002-6973-7639]
dc.date.accessioned2020-08-12T21:06:02Z
dc.date.available2020-08-12T21:06:02Z
dc.date.issued2015
dc.description.abstractenglishBackground: Oxygen transport is altered in hemoglobinopathies. Aim: To study the distribution of hemoglobinopathies in Andean subjects without African ancestry. Material and Methods: We analyzed blood samples of 1,407 subjects aged 18 to 59 years (58% females), living in the central Andean region of Colombia, referred to discard hemoglobinopathies. The frequency and type of hemoglobinopathy was established by capillary and agarose gel electrophoresis. Results: The frequency of hemoglobinopathies was 34.5% and higher among females. The structural variants found were: AS-heterozygous hemoglobin (8.1%), homozygous SS (3.7%), heterozygous SC (2.2%), AC heterozygotes (0.5%) and heterozygous AE (0.3%). Quantitative variants found were Hb A-Beta thalassemia (13.91%) and Hb H (0.06%), Beta-thalassemia heterozygotes C (0.88%), S-Beta thalassemia heterozygotes (6.07%) and compound heterozygous SC/Beta thalassemia (0.25%), with a persistence of fetal hemoglobin 0. Composite thalassemia was also found in 31%. All techniques showed good correlation and capillary electrophoresis demonstrated a greater detection of hemoglobin variants. Conclusions: The frequency of hemoglobin variants in the analyzed population was high, which is an important public health indicator. The most common hemoglobin variant was HbA/Increased structural Hb A2 and the mos frequent structural hemoglobinopathy was sickle cell trait. Capillary electrophoresis can discern any Hb variants present in the population.eng
dc.format.mimetypeapplication/pdf
dc.identifier.doihttps://dx.doi.org/10.4067/S0034-98872015001000004
dc.identifier.instnameinstname:Universidad El Bosquespa
dc.identifier.issn0034-9887
dc.identifier.reponamereponame:Repositorio Institucional Universidad El Bosquespa
dc.identifier.repourlhttps://repositorio.unbosque.edu.co
dc.identifier.urihttps://hdl.handle.net/20.500.12495/3774
dc.language.isospa
dc.language.isoeng
dc.publisherSociedad Médica de Santiagospa
dc.publisher.journalRevista Médica de Chilespa
dc.relation.ispartofseriesRevista Médica de Chile, 0034-9887, Vol. 143, 2015, p. 1260-1268spa
dc.relation.urihttps://scielo.conicyt.cl/scielo.php?script=sci_arttext&pid=S0034-98872015001000004&lng=en&tlng=en#?
dc.rightsAttribution 4.0 International*
dc.rights.accessrightshttps://purl.org/coar/access_right/c_abf2
dc.rights.accessrightsinfo:eu-repo/semantics/openAccess
dc.rights.accessrightsAcceso abierto
dc.rights.creativecommons2015-10
dc.rights.localAcceso abiertospa
dc.rights.urihttps://creativecommons.org/licenses/by/4.0/*
dc.subject.keywordsHematologic diseasesspa
dc.subject.keywordsHemoglobinopathiesspa
dc.subject.keywordsElectrophoresisspa
dc.subject.keywordsAgarose gelspa
dc.subject.keywordsSickle cell traitspa
dc.titleVariantes de hemoglobina en una población con impresión diagnóstica positiva para hemoglobinopatías en Colombiaspa
dc.title.translatedHemoglobin variants in Colombian patients referred to discard hemoglobinopathiesspa
dc.type.coarhttps://purl.org/coar/resource_type/c_6501
dc.type.driverinfo:eu-repo/semantics/article
dc.type.hasversioninfo:eu-repo/semantics/publishedVersion
dc.type.localArtículo de revista

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