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Differences in the distribution of hemoglobin variants according to the geographic regions in a Colombian population

Diego A Vargas-Hernández1, Adriana Catalina Uscategui-Ruiz1, Juliette De Avila2

  • 1Universidad Militar Nueva Granada, Medical School, Bogotá, Colombia; Hospital Militar Central, Department of Internal Medicine, Bogota, Colombia.

Hematology, Transfusion and Cell Therapy
|February 10, 2023
PubMed

Insights

Hemoglobinopathies like sickle cell disease (HbS) and thalassemia are prevalent in Colombia, with distribution varying by region and sex. Ancestry influences these genetic blood disorder patterns across diverse geographical areas.

Area of Science:

  • Medical Genetics
  • Hematology
  • Public Health

Background:

  • Colombia's unique geography fosters diverse genetic and cultural influences.
  • Hemoglobinopathies are common worldwide recessive diseases, posing a significant public health challenge.
  • Regional ancestry impacts the prevalence of these genetic conditions.

Purpose of the Study:

  • To determine the frequency of hemoglobin variants in Colombia.
  • To analyze variant distribution across different geographical regions.
  • To adjust findings for sex and age in the studied population.

Main Methods:

  • Descriptive retrospective study design.
  • Hemoglobin variants analyzed via electrophoresis.
  • Data collected from specialized institutions in Bogota (2009-2020).

Main Results:

  • Analyzed 2,224 patient results; 63.3% showed no alterations.
  • Prevalent variants included Thalassemia (14.3%) and HbS (17.3%).
  • HbS was more common in males and prevalent in Pacific and Caribbean regions. Thalassemia and HbS were noted in Andean and Orinoquia regions. Amazonian region showed rare hemoglobinopathies.

Conclusions:

  • Sickle cell disease (HbS) and Thalassemia are the primary hemoglobinopathies in Colombia.
  • HbS demonstrates higher prevalence in males.
  • Geographical distribution of hemoglobinopathies is significantly influenced by ancestral origins within Colombia.
Abstract

Keywords:
Hemoglobin disordersHemoglobin electrophoresisHemoglobinopathiesSickle cell disordersThalassemia

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