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Annals of Hematology

, Volume 80, Issue 1, pp 41–44 | Cite as

6-Phosphogluconate dehydrogenase deficiency in an Italian family

  • P. Caprari
  • M. P. Caforio
  • P. Cianciulli
  • D. Maffi
  • M. T. Pasquino
  • A. Tarzia
  • S. Amadori
  • A. M. Salvati
CASE REPORT

Abstract

 A rare case of hereditary erythrocyte enzymopathy, namely 6-phosphogluconate dehydrogenase (6PGD) deficiency, was found in an Italian family. The activity of the enzyme was reduced to 35% in the propositus and her mother, but was normal in the other three members of the family. The 6PGD deficiency was associated with a variable reticulocyte count and recurrent increased unconjugated bilirubinemia without anemia in the propositus, while no clinical or hematological symptoms were evident in her mother. Increased levels of erythrocyte pyruvate kinase (PK) activity and reduced glutathione (GSH) were observed, indicating a slight decrease in mean red blood cell (RBC) age and an activation of reducing systems. The episodic hemolytic events with jaundice observed in the propositus may be the result of a defective RBC ability to counteract conditions of marked oxidative stress. In this report the importance of 6PGD estimation for a proper analysis of glucose-6-phosphate dehydrogenase (G6PD) deficiency is also highlighted. In fact in the present study, the presence of 6PGD deficiency could be mistaken for a partial G6PD deficiency if the assay of G6PD activity was performed without correcting for 6PGD activity.

Keywords 6-Phosphogluconate dehydrogenase 6PGD Erythrocyte enzyme deficiency Hyperbilirubinemia Hemolytic anemia 

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Copyright information

© Springer-Verlag Berlin Heidelberg 2001

Authors and Affiliations

  • P. Caprari
    • 1
  • M. P. Caforio
    • 1
  • P. Cianciulli
    • 2
  • D. Maffi
    • 1
  • M. T. Pasquino
    • 1
  • A. Tarzia
    • 1
  • S. Amadori
    • 2
  • A. M. Salvati
    • 1
  1. 1.Laboratorio di Biochimica Clinica, Istituto Superiore di Sanità, Viale Regina Elena, 299, 00161 Rome, Italy e-mail: caprari@iss.it Tel.: +39-6-49902449 Fax: +39-6-49387202IT
  2. 2.Ospedale S. Eugenio, Cattedra di Ematologia, Università "Tor Vergata", Centro Microcitemie, Rome, ItalyIT

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