Show simple item record

HEMOGLOBIN VARIANTS IN COLOMBIAN PATIENTS REFERRED TO DISCARD HEMOGLOBINOPATHIES

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

dc.contributoren-US
dc.contributores-ES
dc.creatorRomero-Sánchez, Consuelo; Instituto de Referencia Andino Hospital Militar Central Facultad de Medicina - Universidad Militar Nueva Granada Instituto UIBO-Universidad El Bosque
dc.creatorGómez Gutiérrez, Alberto; Instituto de Referencia Andino Instituto de Genética Humana - Facultad de Medicina, Pontificia Universidad Javeriana
dc.creatorDuarte, Yurani; Hospital Militar Central
dc.creatorAmazo, Constanza; Instituto de Referencia Andino
dc.creatorManosalva, Clara; Instituto de Referencia Andino
dc.creatorChila M, Lorena; universidad el bosque
dc.creatorCasas-Gómez, María Consuelo; Instituto de Referencia Andino
dc.creatorBriceño Balcázar, Ignacio; Instituto de Genética Humana - Facultad de Medicina, Pontificia Universidad Javeriana Universidad de la Sabana
dc.date2015-08-25
dc.date.accessioned2019-11-11T18:27:38Z
dc.date.available2019-11-11T18:27:38Z
dc.identifierhttp://www.revistamedicadechile.cl/ojs/index.php/rmedica/article/view/4008
dc.identifier.urihttps://revistaschilenas.uchile.cl/handle/2250/111231
dc.descriptionBackground: 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 1407 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.en-US
dc.descriptionBackground: 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 1407 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.es-ES
dc.formatapplication/pdf
dc.languagespa
dc.publisherRevista Médica de Chilees-ES
dc.relationhttp://www.revistamedicadechile.cl/ojs/index.php/rmedica/article/view/4008/1550
dc.relationhttp://www.revistamedicadechile.cl/ojs/index.php/rmedica/article/downloadSuppFile/4008/16786
dc.relationhttp://www.revistamedicadechile.cl/ojs/index.php/rmedica/article/downloadSuppFile/4008/16787
dc.relationhttp://www.revistamedicadechile.cl/ojs/index.php/rmedica/article/downloadSuppFile/4008/16789
dc.relationhttp://www.revistamedicadechile.cl/ojs/index.php/rmedica/article/downloadSuppFile/4008/16790
dc.relationhttp://www.revistamedicadechile.cl/ojs/index.php/rmedica/article/downloadSuppFile/4008/16791
dc.relationhttp://www.revistamedicadechile.cl/ojs/index.php/rmedica/article/downloadSuppFile/4008/16792
dc.relationhttp://www.revistamedicadechile.cl/ojs/index.php/rmedica/article/downloadSuppFile/4008/16793
dc.relationhttp://www.revistamedicadechile.cl/ojs/index.php/rmedica/article/downloadSuppFile/4008/16794
dc.relationhttp://www.revistamedicadechile.cl/ojs/index.php/rmedica/article/downloadSuppFile/4008/16795
dc.relationhttp://www.revistamedicadechile.cl/ojs/index.php/rmedica/article/downloadSuppFile/4008/16796
dc.relationhttp://www.revistamedicadechile.cl/ojs/index.php/rmedica/article/downloadSuppFile/4008/16908
dc.relationhttp://www.revistamedicadechile.cl/ojs/index.php/rmedica/article/downloadSuppFile/4008/16909
dc.relationhttp://www.revistamedicadechile.cl/ojs/index.php/rmedica/article/downloadSuppFile/4008/16911
dc.relationhttp://www.revistamedicadechile.cl/ojs/index.php/rmedica/article/downloadSuppFile/4008/16912
dc.relationhttp://www.revistamedicadechile.cl/ojs/index.php/rmedica/article/downloadSuppFile/4008/16932
dc.relationhttp://www.revistamedicadechile.cl/ojs/index.php/rmedica/article/downloadSuppFile/4008/16936
dc.relationhttp://www.revistamedicadechile.cl/ojs/index.php/rmedica/article/downloadSuppFile/4008/19158
dc.relationhttp://www.revistamedicadechile.cl/ojs/index.php/rmedica/article/downloadSuppFile/4008/19159
dc.relationhttp://www.revistamedicadechile.cl/ojs/index.php/rmedica/article/downloadSuppFile/4008/19913
dc.sourceRevista Médica de Chile; Vol. 143, núm. 10 (2015): OCTUBRE 2015es-ES
dc.source0034-9887
dc.subjectHematologic diseases; Hemoglobinopathies; Electrophoresis, agarose gel; Sickle cell traiten-US
dc.subjectHematologic diseases; Hemoglobinopathies; Electrophoresis, agarose gel; Sickle cell traites-ES
dc.titleHEMOGLOBIN VARIANTS IN COLOMBIAN PATIENTS REFERRED TO DISCARD HEMOGLOBINOPATHIESen-US
dc.titleVariantes de hemoglobina en una población con impresión diagnóstica positiva para hemoglobinopatías en Colombiaes-ES
dc.typeinfo:eu-repo/semantics/article
dc.typeinfo:eu-repo/semantics/publishedVersion
dc.typees-ES


This item appears in the following Collection(s)

Show simple item record