title: [Glucose 6 phosphate dehydrogenase deficiency: a case series].
abstract: We describe the laboratory and clinical characteristics of 50 patients with glucose 6 phosphate dehydrogenase deficiency (G6PD). G6PD deficiency represented 1.1% of all the diagnosis made. Coexistence of G6PD with other erythropathy was detected as follow: G6PG/HbS 2 patients and G6PG/hereditary spherocytosis 1 patient. A positive Brewer's test was found in 100% of males but in only 56% of women. Males had a mean enzymatic activity (MEA) of 0.85 ± 0.52 U/g Hb. Women, with positive Brewer's test, showed a MEA of 3.82 ± 1.26 U/g Hb, while the MEA of women with negative Brewer's test was 5.65 ± 2.84 U/g Hb. Genetic counseling and the list of food and drugs potentially harmful was given to all patients. The inclusion of simple screening tests, such as Brewer's test, in the study of anemia, enables us to detect asymptomatic males and carriers in whom this enzymopathy was co-inherited with another erythropathy.
authors.affiliation: Servicio de Hematología-Oncología, Hospital Nacional de Pediatría "Prof. Dr. Juan P. Garrahan", Buenos Aires, Argentina.
authors.forename: Silvia
authors.initials: S
authors.lastname: Eandi Eberle
authors.forename: Nerina
authors.initials: N
authors.lastname: García Rosolen
authors.forename: Carolina
authors.initials: C
authors.lastname: Urtasun
authors.forename: Gabriela
authors.initials: G
authors.lastname: Sciuccati
authors.forename: Lilian
authors.initials: L
authors.lastname: Díaz
authors.forename: Valeria
authors.initials: V
authors.lastname: Savietto
authors.forename: Andrea
authors.initials: A
authors.lastname: Candás
authors.forename: Vanesa
authors.initials: V
authors.lastname: Avalos Gómez
authors.forename: Carolina
authors.initials: C
authors.lastname: Cervio
authors.forename: Mariana
authors.initials: M
authors.lastname: Bonduel
authors.forename: Aurora
authors.initials: A
authors.lastname: Feliú Torres
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D005260:Female; D005955:Glucosephosphate Dehydrogenase Deficiency / Q000175:diagnosis*; D006801:Humans; D007223:Infant; D008137:Longitudinal Studies; D008297:Male; D008875:Middle Aged; D012189:Retrospective Studies; D055815:Young Adult