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

Romero-Sánchez, Consuelo; Gutiérrez, Alberto Gómez; Duarte, Yurani; Amazo, Constanza; Manosalva, Clara; Chila-Moreno, Lorena; Casas-Gómez, María Consuelo; Balcázar, Ignacio Briceño

doi:10.4067/s0034-98872015001000004

Cited by 8 publications

(6 citation statements)

References 10 publications

(7 reference statements)

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“…In Colombia, there are some studies with previous reports, one of them reported by Romero-Sánchez and collaborators, 10 which was conducted from 2009 to 2012 with patients from different cities of the country (whose data we included in this study), with a different geographical distribution; a frequency of hemoglobinopathies of 34.5% was described, the sickle cell trait and sickle cell anemia being the most important. In another study conducted in Cali, Colombia, in a retrospective cohort of 152 patients in whom capillary electrophoresis was performed, 42.7% presented some type of hemoglobinopathy, with the sickle cell trait (Hb AS) in 14.5%, followed by sickle cell disease (Hb SS) in 11.8%, being the most prevalent, but with a smaller sample size than ours.…”

Section: Discussionmentioning

confidence: 92%

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

Vargas-Hernández

Uscategui-Ruiz

Ávila

et al. 2023

Hematology, Transfusion and Cell Therapy

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Section: Discussionmentioning

confidence: 92%

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

Vargas-Hernández

Uscategui-Ruiz

Ávila

et al. 2023

Hematology, Transfusion and Cell Therapy

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“…Se observó un patrón similar en el boletín epidemiológico del mismo año para la enfermedad de células falciformes, donde la edad media de diagnóstico fue de 9 años 7 . La hemoglobinopatía más frecuente fue el rasgo de células falciformes (Hb S) con 14,5%, seguido de la enfermedad de células falciformes (Hb SS) con 11,8%, que fue similar a estudios nacionales e internacionales previos 1,2,6,10,11 . Es importante mencionar que los resultados de CE reportados en este estudio fueron calculados para niños en riesgo siendo estudiados por anemia, y no con fines de tamizaje, por lo tanto, la prevalencia pue- de ser mayor en comparación con otros hospitales en Colombia.…”

Section: Discussionunclassified

“…En contraste, la detección en recién nacidos favorece la supervivencia y una mejor calidad de vida para los pacientes pediátricos 5 . Por lo tanto, esperamos que este estudio genere conciencia entre los profesionales de la salud para sospechar estos trastornos en pacientes pediátricos con anemia y promover el diagnóstico temprano en el entorno de atención primaria, o mejor aun desde el punto de vista de tamizaje, evitando complicaciones futuras como se mencionó anteriormente 7,11,20 .…”

Section: Discussionunclassified

Importance of early detection of hemoglobinopathies in the pediatric population in developing countries

et al. 2020

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Objetivo: Alertar al personal de la salud sobre la importancia de la detección temprana de las hemoglobinopatías, dado que es el trastorno monogénico recesivo más frecuente.Pacientes y Método: Estudio retrospectivo del resultado de eletroforesis capilar (CE) de 152 pacientes entre 0 y 18 años que durante el año 2017 fueron evaluados por sospecha de hemoglobinopatías en un Hospital Universitario de Colombia. La información se tomó de los registros médicos y del Laboratorio de Hematología y Hemostasia, asegurando la privacidad de los datos y aprobado por el Comité de Ética local.Resultados: De 152 pacientes, 48,6% tenía entre 7 y 18 años. La frecuencia de hemoglobinopatías fue de 42,7%. La variante más frecuente fue el rasgo de células falciformes (Hb S) con 14,5%. El hematólogo fue el profesional que más frecuentemente solicitó EC.Discusión: Se detectó que las hemoglobinopatías se diagnostican usualmente en niños mayores de siete años. Esto puede favorecer las complicaciones y progresión de la enfermedad, y aumento en los costos de la salud. Se requiere más información y educación a los médicos generales y pediatras para un diagnóstico más temprano.

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“…In Colombia, haemoglobinopathies and erythrocyte defects prevail, with frequencies ranging from 2.4 to 70% being reported in different regions of the country. The results of population studies of some of these resistance variants have also been reported [16,17,18,19,20,21,22,23,24,25,26,27,28,29,30,31,32,33], but thus far, no study has been carried out that establishes, in a population endemic to malaria, such as Buenaventura, the prevalence of all previously mentioned resistance variants, the genotypic combinations that are found and in which proportion and which population distribution variables (such as sex, age and community) in uence the genotypes of these resistance variants.…”

Section: Introductionmentioning

confidence: 91%

Prevalence of the Main Human Genetic Variants Related to Resistance to Malaria in a Population of the Colombian Pacific Coast

Ortega,

Arango,

Cañón

et al. 2023

Preprint

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Background. Malaria is an endemic disease present in many areas of Colombia. In the city of Buenaventura (Colombian Pacific), there is a high incidence of malaria cases, with a high number of deaths due to this disease. Some genetic variants provide protection against malaria, as is the case for individuals heterozygous for some haemoglobin variants (HbS, HbC, and β-thalassemias), individuals homozygous and heterozygous for the A- variant of the G6PD gene, and individuals homozygous for the FYBES allele of the Duffy gene. The objective of this research was to establish the prevalence of these variants through molecular characterization in a representative sample of the population of the urban area of Buenaventura. Methods. A total of 819 individuals selected randomly from each of the 12 communities of the city were included. The analysis at the molecular level was carried out using PCR-RFLP and allele-specific PCR. The contained data were subjected to descriptive, independence and regression analyses. These evaluations were carried out using Arlequin 3.5, SPSS 20 and R 3.4.1. Results. Frequencies of 3.1%, 2.2%, 72.2%, 2.1%, 2.8%, and 11% were found for the resistance alleles HbS, HbC, Duffy, β-Thalassemia-29, β-thalassemia-88 and G6PD, respectively. For the Duffy gene, there was a higher frequency of the resistance genotype in the entire population, as well as a higher occurrence of the Duffy resistance genotype combination with the G6PD and HbS/C resistance genotypes. In addition, compared with other age groups, adolescents and young adults (13 to 26 years) presented the highest proportion of resistance genotypes. Likewise, compared with other communities, the communities of the insular zone of Buenaventura (1, 2, 4, 5) had the highest proportion of resistance genotypes. These data are important to take into account by health and prevention entities in the city because they reveal age groups and communities more susceptible to infection by malaria in the city of Buenaventura and groups prone to developing and/or propagating genes that can increase the prevalence of haemoglobinopathies in the population in the long term.

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

Cited by 8 publications

References 10 publications

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

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

Importance of early detection of hemoglobinopathies in the pediatric population in developing countries

Prevalence of the Main Human Genetic Variants Related to Resistance to Malaria in a Population of the Colombian Pacific Coast

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