Abstract
Oxygen transport is altered in hemoglobinopathies. To study the distribution of hemoglobinopathies in Andean subjects without African ancestry. 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. 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. 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.
Highlights
Oxygen transport is altered in hemoglobinopathies
Composite thalassemia was found in 31%
All techniques showed good correlation and capillary electrophoresis demonstrated a greater detection of hemoglobin variants
Summary
Bogotá, Colombia. 2Instituto de Referencia Andino, Bogotá, Colombia. 3Instituto de Genética Humana, Pontificia Universidad Javeriana, Bogotá Colombia. 4Servicio de Hematología Hospital Militar Central, Bogotá, Colombia. 5Unidad de Investigación Oral-. Informamos que durante el desarrollo de la presente investigación, ni los autores ni las instituciones que incorporamos incurrimos en ningún tipo de conflicto de intereses. Financiación: Esta investigación recibió financiación de las instituciones participantes para su realización. Recibido el 5 de noviembre de 2014, aceptado el 13 de julio de 2015. Consuelo Romero-Sánchez1,2,4,5,a, Alberto Gómez Gutiérrez2,3,b, Yurani Duarte1,c, Constanza Amazo2,c, Clara Manosalva2,c, Lorena Chila M5,c, María Consuelo Casas-Gómez3,c, Ignacio Briceño Balcázar2,3,d
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