Abstract

EANDI EBERLE, Silvia et al. Glucose 6 phosphate dehydrogenase defciency: A case series. Arch. argent. pediatr. [online]. 2011, vol.109, n.4, pp.354-356. ISSN 0325-0075.

We describe the laboratory and clinical characteristics of 50 patients with glucose 6 phosphate dehydrogenase defciency (G6PD). G6PD defciency 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.

Keywords : Enzymopathy; G6PD; Hemolytic anemia; Jaundice.

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