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

ABSTRACT Introduction: Colombia has been subject to intense genetic and cultural currents due to its geographical location. Hemoglobinopathies are the most common recessive diseases found worldwide and represent an important public health problem, according to the region and ancestry of each country. Objectives: To evaluate the frequency of hemoglobin variants according to the geographical region in a population group adjusted to sex and age in Colombia. Methods: This was a descriptive retrospective study of hemoglobin variants performed by electrophoresis in patients treated at and/or referred to specialized care institutions in Bogota, Colombia between January 2009 and December 2020. Results: A total of 2,224 results were analyzed, 48.4% male and 51.5% female; 63.3% of patients were without alterations, 14.3% presented with thalassemia, 17.3%, HbS, 2.3%, HbS/C, 1.8%, HbC, 0.5%, HbE and 0.5% persistent HbF, with HbS being more prevalent in males (p = 0.005). When assessing the geographical regions of Colombia, a higher prevalence of HbS was found in the Pacific (p = 0.005) and Caribbean regions, while Thalassemia and HbS were more prevalent in the Andean and Orinoquia regions, and it was rare to find any hemoglobinopathies (p = 0.0001) in the Amazonian region. Conclusions: The main hemoglobinopathies found in Colombia are HbS, predominantly in males, and Thalassemia. The distribution of hemoglobinopathies in different geographical regions of Colombia is influenced by ancestry.

Sickle Cell Trait, Clinical Manifestations and Outcomes: A Cross-Sectional Study in Colombia: Increasing Rate of Symptomatic Subjects Living in High Altitude.

Background: Sickle cell trait (SCT) is an autosomal recessive blood disorder in which patients are heterozygous carriers for hemoglobin S (HbAS) and are usually asymptomatic. We performed a descriptive analysis of clinical manifestations and outcomes associated with SCT. Methods: This was a descriptive, cross-sectional study that included patients with SCT from 2014 to 2020 at Hospital Militar Central, the reference center of the Military forces in Bogota, Colombia. Results: Of 647 hemoglobin electrophoresis analyzed, we identified 51 patients with SCT, including 43 males (84.3%) and eight females (15.7%), with a median age of 22 years (IQR 15-36 years). Of these, 28 (54.8%) were Afro-Colombian, 23 (45.1%) were Colombian mestizos, and 31/51 (60.8%) of patients were active military members. Twenty-four patients (47.1%) were asymptomatic, and Twenty-seven patients (52.9%) were symptomatic (systemic complications); Most of the patients who presented symptoms were active military members of the Colombian military forces. Splenic complications were the most important (85.2%), p=0.0005, and there was a wide spectrum of splenic complications. In addition, we found significant elevations in leukocytes, bilirubin, LDH, and CRP. Eighteen patients (66.7%) received medical management, five (18.5%) required splenectomy, and only 5.9% of patients were sent for genetic counseling. Conclusions: Military Personnel is a population with a high risk of developing symptoms, and splenic complications were the most relevant in symptomatic patients. Most patients received medical treatment, and 18.5% of patients required splenectomy. Our results reflect the absence of redirection of these patients to genetic counseling.

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

INTRODUCTION: Colombia has been subject to intense genetic and cultural currents due to its geographical location. Hemoglobinopathies are the most common recessive diseases found worldwide and represent an important public health problem, according to the region and ancestry of each country. OBJECTIVES: To evaluate the frequency of hemoglobin variants according to the geographical region in a population group adjusted to sex and age in Colombia. METHODS: This was a descriptive retrospective study of hemoglobin variants performed by electrophoresis in patients treated at and/or referred to specialized care institutions in Bogota, Colombia between January 2009 and December 2020. RESULTS: A total of 2,224 results were analyzed, 48.4% male and 51.5% female; 63.3% of patients were without alterations, 14.3% presented with thalassemia, 17.3%, HbS, 2.3%, HbS/C, 1.8%, HbC, 0.5%, HbE and 0.5% persistent HbF, with HbS being more prevalent in males (p = 0.005). When assessing the geographical regions of Colombia, a higher prevalence of HbS was found in the Pacific (p = 0.005) and Caribbean regions, while Thalassemia and HbS were more prevalent in the Andean and Orinoquia regions, and it was rare to find any hemoglobinopathies (p = 0.0001) in the Amazonian region. CONCLUSIONS: The main hemoglobinopathies found in Colombia are HbS, predominantly in males, and Thalassemia. The distribution of hemoglobinopathies in different geographical regions of Colombia is influenced by ancestry.