Variantes de hemoglobina en una población con impresión diagnóstica positiva para hemoglobinopatías en Colombia
| dc.contributor.author | Romero-Sánchez, Consuelo | |
| dc.contributor.author | Gómez, Alberto | |
| dc.contributor.author | Duarte, Yurani | |
| dc.contributor.author | Amazo, Constanza | |
| dc.contributor.author | Manosalva, Clara | |
| dc.contributor.author | Chila M, Lorena | |
| dc.contributor.author | Casas-Gómez, María Consuelo | |
| dc.contributor.author | Briceño, Ignacio | |
| dc.contributor.corporatename | Pontificia Universidad Javeriana. Facultad de Medicina. Instituto de Genética Humana | |
| dc.coverage.spatial | Colombia | spa |
| dc.date.accessioned | 2020-03-17T14:02:51Z | |
| dc.date.accessioned | 2020-04-15T13:37:41Z | |
| dc.date.available | 2020-03-17T14:02:51Z | |
| dc.date.available | 2020-04-15T13:37:41Z | |
| dc.date.created | 2015-10 | |
| dc.description.abstractenglish | Background: 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. | spa |
| dc.description.comunidad | Colombianos | spa |
| dc.description.paginas | 1260-1268 | spa |
| dc.description.quartilescopus | Q3 | spa |
| dc.description.quartilewos | Q4 | spa |
| dc.description.tipoarticulo | Artículo de investigación | spa |
| dc.format | spa | |
| dc.format.mimetype | application/pdf | spa |
| dc.format.soporte | Papel / Electrónico | spa |
| dc.identifier | http://www.revistamedicadechile.cl/ojs/index.php/rmedica/article/view/4008 | spa |
| dc.identifier.doi | http://dx.doi.org/10.4067/S0034-98872015001000004 | spa |
| dc.identifier.issn | 0034-9887 / 0717-6163 (Electrónico) | spa |
| dc.identifier.uri | http://hdl.handle.net/10554/47655 | |
| dc.language | spa | spa |
| dc.rights.licence | Atribución-NoComercial 4.0 Internacional | * |
| dc.rights.uri | http://creativecommons.org/licenses/by-nc/4.0/ | * |
| dc.source | Revista Medica de Chile; Vol. 143 Núm. 10 (2015) | spa |
| dc.subject.keyword | Hematologic diseases | spa |
| dc.subject.keyword | Hemoglobinopathies | spa |
| dc.subject.keyword | Electrophoresis | spa |
| dc.subject.keyword | Agarose gel | spa |
| dc.subject.keyword | Sickle cell trait | spa |
| dc.title | Variantes de hemoglobina en una población con impresión diagnóstica positiva para hemoglobinopatías en Colombia | spa |
| dc.title.english | Hemoglobin variants in colombian patients referred to discard hemoglobinopathies | spa |
| dc.type | info:eu-repo/semantics/article | |
| dc.type.hasversion | http://purl.org/coar/version/c_ab4af688f83e57aa | |
| dc.type.local | Artículo de revista | spa |