MUTATIONS IMPLICATED IN G6PD DEFICIENCY IN BRAZIL: A SYSTEMATIC REVIEW
Introduction/Objective: Glucose-6-phosphate dehydrogenase deficiency (G6PDd) is an enzymaticdisorder resulting from some mutations in its coding gene. These mutations lead a decrease theNicotinamide Adenine Dinucleotide Phosphate Hydrogen (NADPH) supply on the cells, mainly RBCs,raising the of free...
| Main Authors: | , , , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Elsevier
2023-10-01
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| Series: | Hematology, Transfusion and Cell Therapy |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S2531137923014967 |
| _version_ | 1797654825526099968 |
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| author | JNV Silva ACS Castro MMP Luciano IPC Tavares MOO Nascimento EJS Freitas SRL Albuquerque RS Leal MS Gonçalves JPM Neto |
| author_facet | JNV Silva ACS Castro MMP Luciano IPC Tavares MOO Nascimento EJS Freitas SRL Albuquerque RS Leal MS Gonçalves JPM Neto |
| author_sort | JNV Silva |
| collection | DOAJ |
| description | Introduction/Objective: Glucose-6-phosphate dehydrogenase deficiency (G6PDd) is an enzymaticdisorder resulting from some mutations in its coding gene. These mutations lead a decrease theNicotinamide Adenine Dinucleotide Phosphate Hydrogen (NADPH) supply on the cells, mainly RBCs,raising the of free radicals and causing to oxidative damage. In the world, this enzymopathy affectsapproximately 400 million people, while in the Brazil country, many studies indicate a three main G6PDdvariants. The objective of this work was to demonstrate to identify the main mutations present inBrazilian states through a literature review. Materials and methods: A systematic review was carried out using the NCBI and Scielo platformssearching the keywords [“G6PD”and “Brazil”and “prevalence”], selecting all articles that provided theprevalence of the mutation or deficiency in any Brazilian state, regardless of the publication year. Results: Two hundred and thirty-seven manuscripts were found between the year 2000 to 2022, being 11were performed in the Brazilian north region, six in the southeast region, four in the northeast region andfour in the south. There were no articles found in the Brazilian central-east region. Over 22 mutationswere identified distributed along the Brazilian territory, the African origin variant (c.202G>A ec.376A>G) and the Mediterranean (c.563C>T) been the most prevalent ones, totaling about in 90% ofstudies. Conclusion: According to this study, the main G6PD variants found in Brazil were first of African originand second of Mediterranean origin. This result can be explained by a great racial diversity found inBrazil, in which this population is mainly composed by African and European descendants. This geneticdiversity influences the prevalence and distribution of specific mutations in different populations. Thesefindings provide valuable information to help comprehend the genetic inheritance of G6PD variants in theBrazilian population. |
| first_indexed | 2024-03-11T17:05:08Z |
| format | Article |
| id | doaj.art-52f68d5ebfeb4aed91dc2ac1d3f6a8b9 |
| institution | Directory Open Access Journal |
| issn | 2531-1379 |
| language | English |
| last_indexed | 2024-03-11T17:05:08Z |
| publishDate | 2023-10-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Hematology, Transfusion and Cell Therapy |
| spelling | doaj.art-52f68d5ebfeb4aed91dc2ac1d3f6a8b92023-10-20T06:46:03ZengElsevierHematology, Transfusion and Cell Therapy2531-13792023-10-0145S727S728MUTATIONS IMPLICATED IN G6PD DEFICIENCY IN BRAZIL: A SYSTEMATIC REVIEWJNV Silva0ACS Castro1MMP Luciano2IPC Tavares3MOO Nascimento4EJS Freitas5SRL Albuquerque6RS Leal7MS Gonçalves8JPM Neto9Pós-graduação em Ciências Aplicadas à Hematologia (PPGH-UEA/HEMOAM), Manaus, AM, BrazilPós-graduação em Imunologia Básica e Aplicada (PPGIBA /UFAM), Manaus, AM, BrazilPós-Graduação em Ciências Farmacêuticas (PPGCF /UFAM), Manaus, AM, BrazilPós-graduação em Imunologia Básica e Aplicada (PPGIBA /UFAM), Manaus, AM, BrazilPós-Graduação em Ciências Farmacêuticas (PPGCF /UFAM), Manaus, AM, BrazilPós-graduação em Imunologia Básica e Aplicada (PPGIBA /UFAM), Manaus, AM, BrazilPós-graduação em Ciências Aplicadas à Hematologia (PPGH-UEA/HEMOAM), Manaus, AM, BrazilPós-Graduação em Farmácia (PPGFAR/UFBA), Salvador, BA, BrazilInstituto Oswaldo Cruz Salvador (CPqGM), Salvador, BA, BrazilPós-graduação em Ciências Aplicadas à Hematologia (PPGH-UEA/HEMOAM), Manaus, AM, Brazil; Pós-graduação em Imunologia Básica e Aplicada (PPGIBA /UFAM), Manaus, AM, Brazil; Pós-Graduação em Ciências Farmacêuticas (PPGCF /UFAM), Manaus, AM, BrazilIntroduction/Objective: Glucose-6-phosphate dehydrogenase deficiency (G6PDd) is an enzymaticdisorder resulting from some mutations in its coding gene. These mutations lead a decrease theNicotinamide Adenine Dinucleotide Phosphate Hydrogen (NADPH) supply on the cells, mainly RBCs,raising the of free radicals and causing to oxidative damage. In the world, this enzymopathy affectsapproximately 400 million people, while in the Brazil country, many studies indicate a three main G6PDdvariants. The objective of this work was to demonstrate to identify the main mutations present inBrazilian states through a literature review. Materials and methods: A systematic review was carried out using the NCBI and Scielo platformssearching the keywords [“G6PD”and “Brazil”and “prevalence”], selecting all articles that provided theprevalence of the mutation or deficiency in any Brazilian state, regardless of the publication year. Results: Two hundred and thirty-seven manuscripts were found between the year 2000 to 2022, being 11were performed in the Brazilian north region, six in the southeast region, four in the northeast region andfour in the south. There were no articles found in the Brazilian central-east region. Over 22 mutationswere identified distributed along the Brazilian territory, the African origin variant (c.202G>A ec.376A>G) and the Mediterranean (c.563C>T) been the most prevalent ones, totaling about in 90% ofstudies. Conclusion: According to this study, the main G6PD variants found in Brazil were first of African originand second of Mediterranean origin. This result can be explained by a great racial diversity found inBrazil, in which this population is mainly composed by African and European descendants. This geneticdiversity influences the prevalence and distribution of specific mutations in different populations. Thesefindings provide valuable information to help comprehend the genetic inheritance of G6PD variants in theBrazilian population.http://www.sciencedirect.com/science/article/pii/S2531137923014967 |
| spellingShingle | JNV Silva ACS Castro MMP Luciano IPC Tavares MOO Nascimento EJS Freitas SRL Albuquerque RS Leal MS Gonçalves JPM Neto MUTATIONS IMPLICATED IN G6PD DEFICIENCY IN BRAZIL: A SYSTEMATIC REVIEW Hematology, Transfusion and Cell Therapy |
| title | MUTATIONS IMPLICATED IN G6PD DEFICIENCY IN BRAZIL: A SYSTEMATIC REVIEW |
| title_full | MUTATIONS IMPLICATED IN G6PD DEFICIENCY IN BRAZIL: A SYSTEMATIC REVIEW |
| title_fullStr | MUTATIONS IMPLICATED IN G6PD DEFICIENCY IN BRAZIL: A SYSTEMATIC REVIEW |
| title_full_unstemmed | MUTATIONS IMPLICATED IN G6PD DEFICIENCY IN BRAZIL: A SYSTEMATIC REVIEW |
| title_short | MUTATIONS IMPLICATED IN G6PD DEFICIENCY IN BRAZIL: A SYSTEMATIC REVIEW |
| title_sort | mutations implicated in g6pd deficiency in brazil a systematic review |
| url | http://www.sciencedirect.com/science/article/pii/S2531137923014967 |
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