Utilize este identificador para referenciar este registo: http://hdl.handle.net/10400.21/3532
Título: Glucose-6-Phosphate dehydrogenase deficiency in children from 0 to 14 years hospitalized at the Pediatric Hospital David Bernardino, Luanda, Angola
Autor: Brito, Miguel
Tchonhi, Chissengo Lucama
Santos, Brígida
Veiga, Luísa
Palavras-chave: G6PD deficiency
Hemolytic anemia
Malaria
Drug interaction
Data: Mar-2014
Editora: OMICS
Citação: Brito 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).
Resumo: The 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.
Peer review: yes
URI: http://hdl.handle.net/10400.21/3532
Versão do Editor: http://omicsonline.org/open-access/glucosephosphate-dehydrogenase-deficiency-in-children-at-the-pediatric-hospital-in-angola-2153-0645-5-125.php?aid=24577
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