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Glucose-6-Phosphate dehydrogenase deficiency in children from 0 to 14 years hospitalized at the Pediatric Hospital David Bernardino, Luanda, Angola

dc.contributor.authorBrito, Miguel
dc.contributor.authorTchonhi, Chissengo Lucama
dc.contributor.authorSantos, Brígida
dc.contributor.authorVeiga, Luísa
dc.date.accessioned2014-05-06T09:20:52Z
dc.date.available2014-05-06T09:20:52Z
dc.date.issued2014-03
dc.description.abstractThe Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common enzymatic defect in the world. The most common clinical manifestations are acute hemolytic anemia associated with drugs, infections, neonatal jaundice and hemolytic non-spherocytic chronic anemia. The main aim of this study was to determine the frequency of major genetic variants of G6PD leading to enzyme deficiency in children from 0 to 14 years at a Pediatric Hospital in Luanda, Angola. A cross-sectional and descriptive analytical study covered a total of 194 children aged from 0 to 14 years, of both genders and hospitalized at the Pediatric Hospital David Bernardino, Luanda between November and December, 2011. The G202A, A376G and C563T mutations of the G6PD gene were determined by real-time PCR with Taqman probes. The disabled A-/A- genotype was detected in 10 girls (10.9%). Among the boys, 21 (20.6%) presented the genotype A-. Considering all the samples, the A- variant was observed in 22.4% of cases. The Mediterranean mutation was not detected in the Angolan sample. Furthermore, no association was found between genotype and anemia, nutritional state and mucosa color. A significant association, however, was observed with jaundice. Based on the results obtained, there is a clear need to identify those with the disabled genotype in the Angolan population in order to avoid cases of drug-induced anemia, particularly in the treatment of malaria, so prevalent in Angola.por
dc.identifier.citationBrito M, Tchonhi CL, Santos B, Veiga L. Glucose-6-Phosphate dehydrogenase deficiency in children from 0 to 14 years hospitalized at the Pediatric Hospital David Bernardino, Luanda, Angola. J Pharmacogenomics Pharmacoproteomics. 2014;5(2).por
dc.identifier.otherDOI:10.4172/2153-0645.1000125
dc.identifier.urihttp://hdl.handle.net/10400.21/3532
dc.language.isoengpor
dc.peerreviewedyespor
dc.publisherOMICSpor
dc.relation.publisherversionhttp://omicsonline.org/open-access/glucosephosphate-dehydrogenase-deficiency-in-children-at-the-pediatric-hospital-in-angola-2153-0645-5-125.php?aid=24577por
dc.subjectG6PD deficiencypor
dc.subjectHemolytic anemiapor
dc.subjectMalariapor
dc.subjectDrug interactionpor
dc.titleGlucose-6-Phosphate dehydrogenase deficiency in children from 0 to 14 years hospitalized at the Pediatric Hospital David Bernardino, Luanda, Angolapor
dc.typejournal article
dspace.entity.typePublication
oaire.citation.titleJournal of Pharmacogenomics & Pharmacoproteomicspor
oaire.citation.volume5por
person.familyNameBrito
person.familyNameVeiga
person.givenNameMiguel
person.givenNameLuisa
person.identifier.ciencia-id231F-F341-7E93
person.identifier.ciencia-id9413-918D-DB0E
person.identifier.orcid0000-0001-6394-658X
person.identifier.orcid0000-0003-1153-8343
person.identifier.ridA-7970-2016
person.identifier.ridL-2730-2013
person.identifier.scopus-author-id35224551000
person.identifier.scopus-author-id8318978600
rcaap.rightsopenAccesspor
rcaap.typearticlepor
relation.isAuthorOfPublication4252d8e0-800c-4d67-8b13-0b711d860669
relation.isAuthorOfPublicationaac1914a-275f-4be2-819d-ab41d356b45a
relation.isAuthorOfPublication.latestForDiscoveryaac1914a-275f-4be2-819d-ab41d356b45a

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