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Copyright (c) 2021 Dario Mendez-Cuadro, Angélica Quinto Casalins, Erika Rodriguez Cavallo, Carlos Moneriz Pretel
This work is licensed under a Creative Commons Attribution 4.0 International License.
Glucose-6-phosphate dehydrogenase (G6PD) deficiency in people of Cartagena city
Corresponding Author(s) : Dario Mendez-Cuadro
Ciencia e Innovación en Salud,
2021
Abstract
Background: Glucose-6-phosphate dehydrogenase deficiency (G6PD) is considered a genetic mechanism of protection against the human severe malaria. However, it also represents a public health problem due it is the first cause of hemolytic anemia of metabolic origin, according to the WHO. Its true prevalence in the Colombian Caribbean region remains undetermined. In order to obtain an overview of this condition in Cartagena de Indias, a pilot study was carried out to identify G6PD deficient individuals in the student community of the University of Cartagena and their relatives. Methods. Identification of patients with G6PD deficiency was done by combining screening Beutler’s (spot test) with kinetic confirmatory (quantitative enzyme activity) methods in the population selected. Results. 25 patients – of a total of 434 individuals – were suspected of suffering this deficiency, which accounts for a frequency of 5.7%. From these, 20 were confirmed as positive through quantitative enzyme activity; resulting a frequency of 4.6% for this alteration. Conclusion: Frequency of G6PD deficient individuals in sample studied get into estimated prevalence values for the Colombian population and reinforce the need to carry out larger-scale screening studies accompanied by molecular screening tests.
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- Fonseca D, Mateus H, Silva C, Contreras N, Restrepo C. Deficiencia de glucosa 6-fosfato deshidrogenasa: Aspectos generales de la eritroenzimopatía más frecuente en el mundo. Acta Medica Colombiana. 2005;30:59-64.
- Watson JA, Leopold SJ, Simpson JA, Day NP, Dondorp AM, White NJ. Collider bias and the apparent protective effect of glucose-6-phosphate dehydrogenase deficiency on cerebral malaria. Elife. 2019;8.
- Luzzatto L, Arese P. Favism and Glucose-6-Phosphate Dehydrogenase Deficiency. N Engl J Med. 2018;378(1):60-71.
- Ruwende C, Hill A. Glucose-6-phosphate dehydrogenase deficiency and malaria. J Mol Med (Berl). 1998;76(8):581-8.
- Uribe Ardila A. Deficiencia de glucosa 6-fosfato deshidrogenasa en Colombia: memorias de 22 años de tamizaje de alto riesgo. Revista Med. 2017;25(2):7-21.
- Parsanathan R, Jain SK. Glucose-6-phosphate dehydrogenase (G6PD) deficiency is linked with cardiovascular disease. Hypertension Research. 2020;43(6):582-4.
- Thomas JE, Kang S, Wyatt CJ, Kim FS, Mangelsdorff AD, Weigel FK. Glucose-6-Phosphate Dehydrogenase Deficiency is Associated with Cardiovascular Disease in U.S. Military Centers. Tex Heart Inst J. 2018;45(3):144-50.
- Cappellini MD, Fiorelli G. Glucose-6-phosphate dehydrogenase deficiency. Lancet. 2008;371(9606):64-74.
- Beutler E, Mitchell M. Special modifications of the fluorescent screening method for glucose-6-phosphate dehydrogenase deficiency. Blood. 1968;32(5):816-8.
- Beutler E, Blume KG, Kaplan JC, Löhr GW, Ramot B, Valentine WN. International Committee for Standardization in Haematology: recommended methods for red-cell enzyme analysis. British journal of haematology. 1977;35(2):331-40.
- Poirot E, Vittinghoff E, Ishengoma D, Alifrangis M, Carneiro I, Hashim R, et al. Risks of Hemolysis in Glucose-6-Phosphate Dehydrogenase Deficient Infants Exposed to Chlorproguanil-Dapsone, Mefloquine and Sulfadoxine-Pyrimethamine as Part of Intermittent Presumptive Treatment of Malaria in Infants. PLoS One. 2015;10(11):e0142414.
- Chu CS, Bancone G, Nosten F, White NJ, Luzzatto L. Primaquine-induced haemolysis in females heterozygous for G6PD deficiency. Malar J. 2018;17(1):101.
- DePina AJ, Pires CM, Andrade AJB, Dia AK, Moreira AL, Ferreira MCM, et al. The prevalence of glucose-6-phosphate dehydrogenase deficiency in the Cape Verdean population in the context of malaria elimination. PLoS One. 2020;15(3):e0229574.
- May J, Meyer CG, Grossterlinden L, Ademowo OG, Mockenhaupt FP, Olumese PE, et al. Red cell glucose-6-phosphate dehydrogenase status and pyruvate kinase activity in a Nigerian population. Trop Med Int Health. 2000;5(2):119-23.
- Alberto Restrepo M, Gutierrez E. The frequency of glucose-6-phosphate dehydrogenase deficiency in Colombia. American journal of human genetics. 1968;20(1):82-5.
- Rosero MJ, Bermúdez AJ. Análisis de hemoglobinopatías en regiones afrocolombianas usando muestras de sangre seca de cordón umbilical. Acta Medica Colombiana. 2012;37:117-26.
- Alvear CC, Barboza M, Viola M, Moneriz C, Araque LM. Pilot study of hemoglobinopathies in newborns of the Rafael Calvo maternity clinic of Cartagena, Colombia. Colombia Médica. 2012;43:196-9.
- Misnaza Castrillón S. Drepanocitosis en Colombia: análisis de la notificación como enfermedad huérfana o rara al sistema de vigilancia en salud pública, 2016 y 2017. Bogotá: Instituto Nacional de Salud.; 2018. 15-01-2018. Contract No.: 14.
- Arai Y. G6PD Deficiency: A Possible Cardiovascular Risk Factor in Older People. Journal of Atherosclerosis and Thrombosis. 2021;28(6):586-7.
- República Sdl. Ley 1980 de 2019. POR MEDIO DE LA CUAL SE CREA EL PROGRAMA DE TAMIZAJE NEONATAL EN COLOMBIA. Bogotá: Congreso de Colombia; 2019. p. 1-7.
References
Fonseca D, Mateus H, Silva C, Contreras N, Restrepo C. Deficiencia de glucosa 6-fosfato deshidrogenasa: Aspectos generales de la eritroenzimopatía más frecuente en el mundo. Acta Medica Colombiana. 2005;30:59-64.
Watson JA, Leopold SJ, Simpson JA, Day NP, Dondorp AM, White NJ. Collider bias and the apparent protective effect of glucose-6-phosphate dehydrogenase deficiency on cerebral malaria. Elife. 2019;8.
Luzzatto L, Arese P. Favism and Glucose-6-Phosphate Dehydrogenase Deficiency. N Engl J Med. 2018;378(1):60-71.
Ruwende C, Hill A. Glucose-6-phosphate dehydrogenase deficiency and malaria. J Mol Med (Berl). 1998;76(8):581-8.
Uribe Ardila A. Deficiencia de glucosa 6-fosfato deshidrogenasa en Colombia: memorias de 22 años de tamizaje de alto riesgo. Revista Med. 2017;25(2):7-21.
Parsanathan R, Jain SK. Glucose-6-phosphate dehydrogenase (G6PD) deficiency is linked with cardiovascular disease. Hypertension Research. 2020;43(6):582-4.
Thomas JE, Kang S, Wyatt CJ, Kim FS, Mangelsdorff AD, Weigel FK. Glucose-6-Phosphate Dehydrogenase Deficiency is Associated with Cardiovascular Disease in U.S. Military Centers. Tex Heart Inst J. 2018;45(3):144-50.
Cappellini MD, Fiorelli G. Glucose-6-phosphate dehydrogenase deficiency. Lancet. 2008;371(9606):64-74.
Beutler E, Mitchell M. Special modifications of the fluorescent screening method for glucose-6-phosphate dehydrogenase deficiency. Blood. 1968;32(5):816-8.
Beutler E, Blume KG, Kaplan JC, Löhr GW, Ramot B, Valentine WN. International Committee for Standardization in Haematology: recommended methods for red-cell enzyme analysis. British journal of haematology. 1977;35(2):331-40.
Poirot E, Vittinghoff E, Ishengoma D, Alifrangis M, Carneiro I, Hashim R, et al. Risks of Hemolysis in Glucose-6-Phosphate Dehydrogenase Deficient Infants Exposed to Chlorproguanil-Dapsone, Mefloquine and Sulfadoxine-Pyrimethamine as Part of Intermittent Presumptive Treatment of Malaria in Infants. PLoS One. 2015;10(11):e0142414.
Chu CS, Bancone G, Nosten F, White NJ, Luzzatto L. Primaquine-induced haemolysis in females heterozygous for G6PD deficiency. Malar J. 2018;17(1):101.
DePina AJ, Pires CM, Andrade AJB, Dia AK, Moreira AL, Ferreira MCM, et al. The prevalence of glucose-6-phosphate dehydrogenase deficiency in the Cape Verdean population in the context of malaria elimination. PLoS One. 2020;15(3):e0229574.
May J, Meyer CG, Grossterlinden L, Ademowo OG, Mockenhaupt FP, Olumese PE, et al. Red cell glucose-6-phosphate dehydrogenase status and pyruvate kinase activity in a Nigerian population. Trop Med Int Health. 2000;5(2):119-23.
Alberto Restrepo M, Gutierrez E. The frequency of glucose-6-phosphate dehydrogenase deficiency in Colombia. American journal of human genetics. 1968;20(1):82-5.
Rosero MJ, Bermúdez AJ. Análisis de hemoglobinopatías en regiones afrocolombianas usando muestras de sangre seca de cordón umbilical. Acta Medica Colombiana. 2012;37:117-26.
Alvear CC, Barboza M, Viola M, Moneriz C, Araque LM. Pilot study of hemoglobinopathies in newborns of the Rafael Calvo maternity clinic of Cartagena, Colombia. Colombia Médica. 2012;43:196-9.
Misnaza Castrillón S. Drepanocitosis en Colombia: análisis de la notificación como enfermedad huérfana o rara al sistema de vigilancia en salud pública, 2016 y 2017. Bogotá: Instituto Nacional de Salud.; 2018. 15-01-2018. Contract No.: 14.
Arai Y. G6PD Deficiency: A Possible Cardiovascular Risk Factor in Older People. Journal of Atherosclerosis and Thrombosis. 2021;28(6):586-7.
República Sdl. Ley 1980 de 2019. POR MEDIO DE LA CUAL SE CREA EL PROGRAMA DE TAMIZAJE NEONATAL EN COLOMBIA. Bogotá: Congreso de Colombia; 2019. p. 1-7.