[Hemoglobin variants in Colombian patients referred to discard hemoglobinopathies].

Abstract

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.

• Authors: Consuelo Romero-Sánchez, Alberto Gómez Gutiérrez, Yurani Duarte, Constanza Amazo, Clara Manosalva, Lorena Chila M, María Consuelo Casas-Gómez, Ignacio Briceño Balcázar
• Journal: Revista medica de Chile (Rev Med Chil) Vol. 143 Issue 10 Pg. 1260-8 (Oct 2015) ISSN: 0717-6163 [Electronic] Chile
• Vernacular Title: Variantes de hemoglobina en una población con impresión diagnóstica positiva para hemoglobinopatías en Colombia.
• PMID: 26633269 (Publication Type: English Abstract, Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Hemoglobins

Topics

• Adult
• Colombia (epidemiology)
• Electrophoresis, Agar Gel
• Electrophoresis, Capillary
• Female
• Hemoglobinopathies (classification, diagnosis, epidemiology, ethnology)
• Hemoglobins (analysis)
• Humans
• Male
• Middle Aged
• Retrospective Studies
• Young Adult