title: Two novel DNA variants associated with glucose-6-phosphate dehydrogenase deficiency found in Argentine pediatric patients.
abstract: OBJECTIVE
  The enzyme glucose-6-phosphate dehydrogenase (G6PD) catalyses the first step in the pentose phosphate pathway, producing nicotinamide adenine dinucleotide phosphate (NADPH). NADPH plays a crucial role in preventing oxidative damage to proteins and other molecules in cells, mostly red blood cells. G6PD deficiency has an x-linked pattern of inheritance in which hemizygous males are deficient, while females may or may not be deficient depending on the number of affected alleles. We report two novel DNA variants in the G6PD gene detected in two male probands with chronic nonspherocytic hemolytic anemia (CNSHA), who were referred for hematological evaluation.
  
  
  METHODS
  Probands and their relatives underwent clinical, biochemical, and molecular assessment.
  
  
  RESULTS
  Two novel DNA variants, c.995C>T and c.1226C>A, were found in this study. At the protein level, they produce the substitution of Ser332Phe and Pro409Gln, respectively. These DNA variants were analyzed in the female relatives of probands for genetic counseling.
  
  
  CONCLUSIONS
  The novel DNA variants were classified as class I based on the clinical, biochemical, and molecular evaluations performed.
authors.affiliation: Servicio de Hematología-Oncología, Hospital de Pediatría "Prof. Dr. Juan P. Garrahan,", Combate de los Pozos 1881, (C1245AAM) Buenos Aires, Argentina.
authors.forename: Alejandro
authors.initials: A
authors.lastname: Chaves
authors.affiliation: Servicio de Hematología-Oncología, Hospital de Pediatría "Prof. Dr. Juan P. Garrahan,", Combate de los Pozos 1881, (C1245AAM) Buenos Aires, Argentina.
authors.forename: Silvia Eandi
authors.initials: SE
authors.lastname: Eberle
authors.affiliation: Departamento de Química Biológica, INQUIMAE/UBA-CONICET, Facultad de Ciencias Exactas y Naturales, Universidad de Buenos Aires, Buenos Aires, Argentina.
authors.forename: Lucas
authors.initials: L
authors.lastname: Defelipe
authors.affiliation: Servicio de Hematología-Oncología, Hospital de Pediatría "Prof. Dr. Juan P. Garrahan,", Combate de los Pozos 1881, (C1245AAM) Buenos Aires, Argentina.
authors.forename: Carolina
authors.initials: C
authors.lastname: Pepe
authors.affiliation: Servicio de Hematología-Oncología, Hospital de Pediatría "Prof. Dr. Juan P. Garrahan,", Combate de los Pozos 1881, (C1245AAM) Buenos Aires, Argentina.
authors.forename: Berenice
authors.initials: B
authors.lastname: Milanesio
authors.affiliation: Servicio de Hematología-Oncología, Hospital de Pediatría "Prof. Dr. Juan P. Garrahan,", Combate de los Pozos 1881, (C1245AAM) Buenos Aires, Argentina.
authors.forename: Fernando
authors.initials: F
authors.lastname: Aguirre
authors.affiliation: Servicio de Hematología-Oncología, Hospital de Pediatría "Prof. Dr. Juan P. Garrahan,", Combate de los Pozos 1881, (C1245AAM) Buenos Aires, Argentina.
authors.forename: Diego
authors.initials: D
authors.lastname: Fernandez
authors.affiliation: Departamento de Química Biológica, INQUIMAE/UBA-CONICET, Facultad de Ciencias Exactas y Naturales, Universidad de Buenos Aires, Buenos Aires, Argentina.
authors.forename: Adrian
authors.initials: A
authors.lastname: Turjanski
authors.affiliation: Servicio de Hematología-Oncología, Hospital de Pediatría "Prof. Dr. Juan P. Garrahan,", Combate de los Pozos 1881, (C1245AAM) Buenos Aires, Argentina. Electronic address: afeliu@garrahan.gov.ar.
authors.forename: Aurora
authors.initials: A
authors.lastname: Feliú-Torres
mesh_terms: D015415:Biomarkers / Q000378:metabolism*; D002675:Child, Preschool; D004247:DNA / Q000235:genetics*; D004912:Erythrocytes / Q000201:enzymology / Q000473:pathology; D005260:Female; D014644:Genetic Variation / Q000235:genetics*; D005954:Glucosephosphate Dehydrogenase / Q000737:chemistry / Q000235:genetics*; D005955:Glucosephosphate Dehydrogenase Deficiency / Q000201:enzymology* / Q000235:genetics*; D006403:Hematologic Tests; D006801:Humans; D008297:Male; D016133:Polymerase Chain Reaction; D011379:Prognosis; D011487:Protein Conformation
chemical_list: D015415:Biomarkers; D004247:DNA; D005954:Glucosephosphate Dehydrogenase
keywords: G6PD DNA variants; G6PD deficiency; Hemolytic anemia