Journal of Pharmacogenomics & Pharmacoproteomics

Luisa Veiga

Publications

• Research Article
  Glucose-6-Phosphate Dehydrogenase Deficiency in Children from 0 to 14 Years Hospitalized at the Pediatric Hospital David Bernardino, Luanda, Angola
  Author(s): Miguel Brito, Chissengo Lucama Tchonhi, Brigida Santos and Luisa VeigaMiguel Brito, Chissengo Lucama Tchonhi, Brigida Santos and Luisa Veiga
  
  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%) prese.. View More»
  DOI: 10.4172/2153-0645.1000125

  Abstract PDF