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

Autores organización

• Maria Consuelo Romero Sanchez

  Autor

Autores

• Gutiérrez A.G.
• Duarte Y.
• Amazo C.
• Manosalva C.
• Chila L.
• Casas-Gómez M.C.
• Balcázar I.B.

Unidades de investigación

• Grupo de Inmunología celular y molecular Universidad El Bosque (InmuBo)

  Investigador

  Maria Consuelo Romero Sanchez

Resumen

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. © 2015, Sociedad Medica de Santiago. All rights reserved.

Keywords

• Adult; Colombia; Electrophoresis, Agar Gel; Electrophoresis, Capillary; Female; Hemoglobinopathies; Hemoglobins; Humans; Male; Middle Aged; Retrospective Studies; Young Adult; hemoglobin; adult; agar gel electrophoresis; capillary electrophoresis; classification; Colombia; ethnology; female; Hemoglobinopathies; human; male; middle aged; retrospective study; young adult