Glucose–6–phosphate dehydrogenase deficiency in Colombia: memories of twenty-two years of high risk screening

Deficiency of Glucose-6 -Phosphate Dehydrogenase is an inherited disorder of X-linked metabolism, as the metabolic disease of the world’s largest frequency with more than 400 million affected individuals, is the most common cause of non-autoimmune hemolytic anemia of metabolic origin. The prevalence...

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Autor Principal: Uribe Ardila, Alfredo
Formato: Artículo (Article)
Lenguaje:Español (Spanish)
Publicado: Universidad Militar Nueva Granada 2017
Materias:
Acceso en línea:http://hdl.handle.net/10654/34519
id ir-10654-34519
recordtype dspace
institution Universidad Militar Nueva Granada
collection DSpace
language Español (Spanish)
topic Hemolytic anemia
Glucose 6-phosphate dehydrogenase
erythrocyte oxidative stress
Erythroenzymopathies
Anemia hemolítica
glucosa-6-fosfato deshidrogenasa
estrés oxidativo eritrocitario
enzimopatías eritrocitarias
anemia hemolítica
Glucose 6-fosfato desidrogenase
Estresse oxidativo de eritrócitos
Eritroenzimopatias
spellingShingle Hemolytic anemia
Glucose 6-phosphate dehydrogenase
erythrocyte oxidative stress
Erythroenzymopathies
Anemia hemolítica
glucosa-6-fosfato deshidrogenasa
estrés oxidativo eritrocitario
enzimopatías eritrocitarias
anemia hemolítica
Glucose 6-fosfato desidrogenase
Estresse oxidativo de eritrócitos
Eritroenzimopatias
Uribe Ardila, Alfredo
Glucose–6–phosphate dehydrogenase deficiency in Colombia: memories of twenty-two years of high risk screening
description Deficiency of Glucose-6 -Phosphate Dehydrogenase is an inherited disorder of X-linked metabolism, as the metabolic disease of the world’s largest frequency with more than 400 million affected individuals, is the most common cause of non-autoimmune hemolytic anemia of metabolic origin. The prevalence calculated for Colombia according to the world health organization is between 3 and 7%, but the reports of population studies are scarce, creating the need to include this deficiency in a neonatal screening program, closer to 11% population is Afro-descendant that without the miscegenation, can offer a greater frequency of deficiency in certain regions of the country.The present study provides an overview of the prevalence of erythrocyte enzyme disease in the population with chronic or episodic hemolytic anemia of non-immune nature from different parts of the national territory. It comprises the evaluation of 3837 samples during the period 1998 to 2016, a total of 1801 controls and 2036 individuals (982 men / 1054 women, age range: 1 week to 91 years) with suggestive findings of this metabolic condition.The results found, offer a prevalence of 7% of the deficiency with variable degrees of residual activity. The overall range of the control groups ranged from 3.31 - 9.98 IU / g HB, contrasting against the group of affected (n = 144) who offered a value of 0.0 - 2.97, 67% = 96 ) corresponds to affected males. These findings highlight the importance of including this erythrocyte enzyme disease in a neonatal screening program.
format Artículo (Article)
author Uribe Ardila, Alfredo
author_facet Uribe Ardila, Alfredo
author_sort Uribe Ardila, Alfredo
title Glucose–6–phosphate dehydrogenase deficiency in Colombia: memories of twenty-two years of high risk screening
title_short Glucose–6–phosphate dehydrogenase deficiency in Colombia: memories of twenty-two years of high risk screening
title_full Glucose–6–phosphate dehydrogenase deficiency in Colombia: memories of twenty-two years of high risk screening
title_fullStr Glucose–6–phosphate dehydrogenase deficiency in Colombia: memories of twenty-two years of high risk screening
title_full_unstemmed Glucose–6–phosphate dehydrogenase deficiency in Colombia: memories of twenty-two years of high risk screening
title_sort glucose–6–phosphate dehydrogenase deficiency in colombia: memories of twenty-two years of high risk screening
publisher Universidad Militar Nueva Granada
publishDate 2017
url http://hdl.handle.net/10654/34519
_version_ 1712102042039746560
spelling ir-10654-345192020-01-08T19:37:53Z Glucose–6–phosphate dehydrogenase deficiency in Colombia: memories of twenty-two years of high risk screening Deficiencia de glucosa 6-fosfato deshidrogenasa en Colombia: memorias de 22 años de tamizaje de alto riesgo Deficiência de dehidrogenase de glucose-6-fosfato na Colômbia: memórias de vinte e dois anos de pedagem de alto risco Uribe Ardila, Alfredo Hemolytic anemia Glucose 6-phosphate dehydrogenase erythrocyte oxidative stress Erythroenzymopathies Anemia hemolítica glucosa-6-fosfato deshidrogenasa estrés oxidativo eritrocitario enzimopatías eritrocitarias anemia hemolítica Glucose 6-fosfato desidrogenase Estresse oxidativo de eritrócitos Eritroenzimopatias Deficiency of Glucose-6 -Phosphate Dehydrogenase is an inherited disorder of X-linked metabolism, as the metabolic disease of the world’s largest frequency with more than 400 million affected individuals, is the most common cause of non-autoimmune hemolytic anemia of metabolic origin. The prevalence calculated for Colombia according to the world health organization is between 3 and 7%, but the reports of population studies are scarce, creating the need to include this deficiency in a neonatal screening program, closer to 11% population is Afro-descendant that without the miscegenation, can offer a greater frequency of deficiency in certain regions of the country.The present study provides an overview of the prevalence of erythrocyte enzyme disease in the population with chronic or episodic hemolytic anemia of non-immune nature from different parts of the national territory. It comprises the evaluation of 3837 samples during the period 1998 to 2016, a total of 1801 controls and 2036 individuals (982 men / 1054 women, age range: 1 week to 91 years) with suggestive findings of this metabolic condition.The results found, offer a prevalence of 7% of the deficiency with variable degrees of residual activity. The overall range of the control groups ranged from 3.31 - 9.98 IU / g HB, contrasting against the group of affected (n = 144) who offered a value of 0.0 - 2.97, 67% = 96 ) corresponds to affected males. These findings highlight the importance of including this erythrocyte enzyme disease in a neonatal screening program. La deficiencia de la Glucosa 6 Fosfato Deshidrogenasa es un desorden hereditario del metabolismo ligado al cromosoma X, considerada como la enfermedad metabólica de mayor frecuencia a nivel mundial con más de 400 millones de individuos afectados, es la causa más común de anemia hemolítica no autoinmune de origen metabólico. La prevalencia calculada para Colombia según la organización mundial de la salud se encuentra entre 3 – 7%, pero los reportes de estudios poblacionales son escasos, creando la necesidad de incluir esta deficiencia en un programa de tamizaje neonatal, más cuando aproximadamente un 11 % de la población es afrodescendiente, que sin contar con el mestizaje, puede ofrecer una frecuencia mayor de la deficiencia en ciertas regiones del país.El presente estudio brinda entonces, una panorámica general de la prevalencia de esta enzimopatía eritrocitaria, en población con anemia hemolítica crónica o episódica de naturaleza no inmune, procedentes de diferentes lugares del territorio nacional. Comprende la valoración de 3837 muestras durante el periodo 1998 al 2016, un total de 1801 controles y 2036 individuos (982 hombres/1054 mujeres, Rango de edad: 1 semana a 91 años) con hallazgos sugerentes de esta condición metabólica.Los resultados encontrados, ofrecen una prevalencia del 7 % de la deficiencia con grados variables de actividad residual. El rango general de los grupos control osciló entre 3,31 - 9,98 UI/gr HB, contrastante contra el grupo de afectados (n=144) que ofreció un valor de 0,0 – 2,97, el 67 % (n=96) correspondiente a varones afectados. Estos hallazgos evidencian la importancia de incluir dentro de un programa de detección neonatal, esta enzimopatía eritrocitaria   A deficiência de glucose-6-fosfato desidrogenase é uma desordem hereditária do metabolismo ligado ao X, como a doença metabólica da maior freqüência do mundo com mais de 400 milhões de indivíduos afetados, é a causa mais comum de anemia hemolítica não autoimune de origem metabólica. A prevalência calculada para a Colômbia de acordo com a organização mundial de saúde é entre 3 e 7%, mas os relatórios de estudos populacionais são escassos, criando a necessidade de incluir esta deficiência em um programa de triagem neonatal, perto de 11% a população é afro-descendente que sem a miscigenação, pode oferecer uma maior frequência de deficiência em certas regiões do país.O presente estudo fornece uma visão geral da prevalência de doença enzimática de eritrócitos na população com anemia hemolítica crônica ou episódica de natureza não imune de diferentes partes do território nacional. Compreende a avaliação de 3837 amostras durante o período de 1998 a 2016, um total de 1801 controles e 2036 indivíduos (982 homens / 1054 mulheres, faixa etária: 1 semana a 91 anos) com achados sugestivos desta condição metabólica.Os resultados encontrados, oferecem uma prevalência de 7% da deficiência com graus variáveis de atividade residual. 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