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Updated: Mar 29, 2026

A Precision Medicine Tool for Measurement and Monitoring of Hemoglobin S in Sickle Cell Disease Patients Receiving Transfusion Therapy
[Hemoglobin variants in Colombian patients referred to discard hemoglobinopathies]
Insights
Hemoglobinopathies are common in Andean Colombians, with HbA/Increased structural Hb A2 and sickle cell trait being most frequent. Capillary electrophoresis effectively detects these hemoglobin variants, highlighting a significant public health concern.
Area of Science:
- Hematology
- Genetics
- Public Health
Context:
- Oxygen transport is significantly impacted by hemoglobinopathies.
- Understanding hemoglobinopathy distribution is crucial for public health initiatives, especially in diverse populations.
- Previous studies have not extensively focused on Andean populations without African ancestry.
Purpose:
- To investigate the prevalence and types of hemoglobinopathies in a Colombian Andean cohort.
- To assess the distribution of structural and quantitative hemoglobin variants in this specific population.
- To evaluate the utility of capillary electrophoresis in identifying hemoglobin variants.
Summary:
- A study of 1,407 Andean Colombian adults revealed a high frequency of hemoglobinopathies (34.5%), more prevalent in females.
- Key findings include high rates of HbA/Increased structural Hb A2 (13.91%) and sickle cell trait (8.1%).
- Capillary electrophoresis proved superior in detecting a wide range of hemoglobin variants compared to other methods.
Impact:
- The high prevalence of hemoglobin variants underscores a significant public health issue in the Andean region.
- Findings provide essential data for targeted screening and management strategies for hemoglobinopathies.
- The study validates capillary electrophoresis as a sensitive tool for hemoglobinopathy diagnosis.
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.
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