alexa Glucose-6-Phosphate Dehydrogenase Deficiency in Children from 0 to 14 Years Hospitalized at the Pediatric Hospital David Bernardino, Luanda, Angola | OMICS International | Abstract
ISSN: 2153-0645

Journal of Pharmacogenomics & Pharmacoproteomics
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Research Article

Glucose-6-Phosphate Dehydrogenase Deficiency in Children from 0 to 14 Years Hospitalized at the Pediatric Hospital David Bernardino, Luanda, Angola

Miguel Brito1,2*, Chissengo Lucama Tchonhi3, Brigida Santos4 and Luisa Veiga1

1Lisbon School of Health Technology, Polytechnic Institute of Lisbon, Portugal

2CISA Project–Health Research Centre in Angola, Caxito, Angola

3Faculty of Medicine, University Agostinho Neto, Luanda, Angola

4Hospital Pediatrico David Bernardino, Luanda, Angola

*Corresponding Author:
Miguel Brito
Lisbon School of Health Technology
Polytechnic Institute of Lisbon, 1990-096 Lisbon, Portugal
Tel: +351 218980400
E-mail: [email protected]

Received date: February 13, 2014; Accepted date: March 14, 2014; Published date: March 24, 2014

Citation: Brito M, Tchonhi CL, Santos B, Veiga L (2014) Glucose-6-Phosphate Dehydrogenase Deficiency in Children from 0 to 14 Years Hospitalized at the Pediatric Hospital David Bernardino, Luanda, Angola. J Pharmacogenomics Pharmacoproteomics 5:125. doi: 10.4172/2153-0645.1000125

Copyright: © 2014 Brito M, et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.

Abstract

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.

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