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

• Consuelo Romero-Sánchez ^[1] ; Alberto Gómez Gutiérrez ^[4] ; Yurani Duarte ^[1] ; Constanza Amazo ^[4] ; Clara Manosalva ^[4] ; Lorena Chila M ^[2] ; María Consuelo Casas-Gómez ^[3] ; Ignacio Briceño Balcázar ^[4]
  1. [1] Hospital Militar Central

     Hospital Militar Central

     Colombia

     
  2. [2] Universidad El Bosque

     Universidad El Bosque

     Colombia

     
  3. [3] Pontífica Universidad Javeriana

     Pontífica Universidad Javeriana

     Colombia

     
  4. [4] Instituto de Referencia Andino

  Mostrar afiliaciones +
• Localización: Revista Médica de Chile, ISSN-e 0034-9887, Vol. 143, Nº. 10, 2015, págs. 1260-1268
• Idioma: español
• Títulos paralelos:
  • Hemoglobin variants in Colombian patients referred to discard hemoglobinopathies
• Enlaces
  • Texto completo
• 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.