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Aspectos clínicos e laboratoriais da deficiência de desidrogenase de 6-fosfato de glicose (g-6-pd) em recém nascidos brasileiros (Clinical and laboratory aspects of glucose-6-phosphate dehydrogenase (g-6-pd) deficiency in brazilian newborns)

Célia Regina Garlipp; Antonio Sérgio Ramalho

Departamento de Genética Médica, Faculdade de Ciências Médicas, Universidade Estadual de Campinas, Caixa Postal 6.111, 13081 Campinas, SP, Brasil. Enviar correspondência para A.S.R.

ABSTRACT

Reports on glucose-6-phosphate dehydrogenase (G-6-PD) deficiency and neonatal jaundice are rare and controversial in Brazil. In the present study some clinical and laboratorial aspects of G-6-PD deficiency were investigated in a sample of 25 patients screened from 697 newborn infants from the Campinas area, State of São Paulo. The enzyme deficiency was investigated in umbilical cord blood by screening tests (methemoglobin reduction test and brilliant cresyl blue dye test) and confirmed by the quantitative enzyme assay and by G-6-PD starch gel electrophoresis. Twenty four newborn infants had the mild African or A type of G-6-PD deficiency and only one had the more severe Mediterranean type. The incidence of moderate jaundice was higher among the enzyme-deficient infants, even though deficient newborns were not exposed to potentially hemolytic environmental factors. Although false-positive results can be obtained with the methemoglobin reduction test, it may be used as a simple and quite inexpensive trial test, providing that the positive results are subsequently confirmed by the brilliant cresyl blue dye test and/or by the G-6-PD enzyme assay.

Keywords: glucose-6-phosphate; dehydrogenase; deficiency; brazilian; newborns.

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