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

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...

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Autores principales:	Romero-Sánchez,Consuelo, Gómez Gutiérrez,Alberto, Duarte,Yurani, Amazo,Constanza, Manosalva,Clara, Chila M,Lorena, Casas-Gómez,María Consuelo, Briceño Balcázar,Ignacio
Lenguaje:	Spanish / Castilian
Publicado:	Sociedad Médica de Santiago 2015
Materias:	Hematologic diseases Hemoglobinopathies Electrophoresis, agarose gel Sickle cell trait
Acceso en línea:	http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872015001000004
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spelling	oai:scielo:S0034-988720150010000042015-12-03Variantes de hemoglobina en una población con impresión diagnóstica positiva para hemoglobinopatías en ColombiaRomero-Sánchez,ConsueloGómez Gutiérrez,AlbertoDuarte,YuraniAmazo,ConstanzaManosalva,ClaraChila M,LorenaCasas-Gómez,María ConsueloBriceño Balcázar,Ignacio Hematologic diseases Hemoglobinopathies Electrophoresis, agarose gel Sickle cell trait 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.info:eu-repo/semantics/openAccessSociedad Médica de SantiagoRevista médica de Chile v.143 n.10 20152015-10-01text/htmlhttp://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872015001000004es10.4067/S0034-98872015001000004
institution	Scielo Chile
collection	Scielo Chile
language	Spanish / Castilian
topic	Hematologic diseases Hemoglobinopathies Electrophoresis, agarose gel Sickle cell trait
spellingShingle	Hematologic diseases Hemoglobinopathies Electrophoresis, agarose gel Sickle cell trait Romero-Sánchez,Consuelo Gómez Gutiérrez,Alberto Duarte,Yurani Amazo,Constanza Manosalva,Clara Chila M,Lorena Casas-Gómez,María Consuelo Briceño Balcázar,Ignacio Variantes de hemoglobina en una población con impresión diagnóstica positiva para hemoglobinopatías en Colombia
description	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.
author	Romero-Sánchez,Consuelo Gómez Gutiérrez,Alberto Duarte,Yurani Amazo,Constanza Manosalva,Clara Chila M,Lorena Casas-Gómez,María Consuelo Briceño Balcázar,Ignacio
author_facet	Romero-Sánchez,Consuelo Gómez Gutiérrez,Alberto Duarte,Yurani Amazo,Constanza Manosalva,Clara Chila M,Lorena Casas-Gómez,María Consuelo Briceño Balcázar,Ignacio
author_sort	Romero-Sánchez,Consuelo
title	Variantes de hemoglobina en una población con impresión diagnóstica positiva para hemoglobinopatías en Colombia
title_short	Variantes de hemoglobina en una población con impresión diagnóstica positiva para hemoglobinopatías en Colombia
title_full	Variantes de hemoglobina en una población con impresión diagnóstica positiva para hemoglobinopatías en Colombia
title_fullStr	Variantes de hemoglobina en una población con impresión diagnóstica positiva para hemoglobinopatías en Colombia
title_full_unstemmed	Variantes de hemoglobina en una población con impresión diagnóstica positiva para hemoglobinopatías en Colombia
title_sort	variantes de hemoglobina en una población con impresión diagnóstica positiva para hemoglobinopatías en colombia
publisher	Sociedad Médica de Santiago
publishDate	2015
url	http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872015001000004
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Variantes de hemoglobina en una población con impresión diagnóstica positiva para hemoglobinopatías en Colombia

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