Glucose-6-phosphate dehydrogenase deficiency in 2 girls.

Authors

  • E Costa Serviço de Hematologia, Hospital de Crianças Maria Pia, Porto.
  • J M Cabeda
  • M E Abreu
  • A Silva
  • L Morais
  • A M Alexandrino
  • B Justiça
  • J Barbot

DOI:

https://doi.org/10.20344/amp.2155

Abstract

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common erythrocyte enzymopathy, affecting over 400 million people worldwide. Portugal is a low prevalence country, but immigrants from endemic regions are common, particularly in the south of the country. In the present study, we report the laboratory findings observed in two black proband children with low G6PD enzyme activity (23 and 18%). The study also included their first-degree relatives. Both biochemical parameters (enzyme activity, electrophoretic mobility and cytochemical test) and genetic determinations (mutation and haplotype characterisation) were performed.

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How to Cite

1.
Costa E, Cabeda JM, Abreu ME, Silva A, Morais L, Alexandrino AM, Justiça B, Barbot J. Glucose-6-phosphate dehydrogenase deficiency in 2 girls. Acta Med Port [Internet]. 1999 Nov. 30 [cited 2024 Mar. 29];12(7-11):283-6. Available from: https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/2155

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