Molecular characterization of G6PD deficiency in Southern Italy: Heterogeneity, correlation genotype-phenotype and description of a new variant (G6PD Neapolis)

Fiorella Alfinito, Amelia Cimmino, Filomena Ferraro, Maria Vittoria Cubellis, Luigii Vitagliano, Matteo Francese, Adriana Zagari, Brino Rotoli, Stefania Filosa, Giuseppe Martini

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Abstract

We report on the molecular basis of glucose-6-phosphate dehydrogenase (G6PD) deficiency in Southern Italy (Campania region). Thirty-one unrelated G6PD-deficient males were analysed at DNA level for the presence of G6PD gene mutations. Nine different G6PD variants were identified, eight of which have already been described (Mediterranean, Seattle, two different A-, Santamaria, Cassano, Union and Cosenza). G6PD Mediterranean, Santamaria, A- and Union were associated with haemolytic episodes. G6PD Seattle, which is polymorphic in several populations, Cassano and Cosenza appeared to be asymptomatic. A new variant (G6PD Neapolis) is reported here. The 467(Pro→Arg) substitution reponsible for G6PD Neapolis is discussed in the light of the current 3D model of human G6PD and in comparison with other natural mutations which occur in the proximity of residue 467.

Original languageEnglish
Pages (from-to)41-46
Number of pages6
JournalBritish Journal of Haematology
Volume98
Issue number1
Publication statusPublished - 1997

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Keywords

  • G6PD deficiency
  • G6PD molecular heterogeneity
  • G6PD Neapolis
  • G6PD variants

ASJC Scopus subject areas

  • Hematology

Cite this

Alfinito, F., Cimmino, A., Ferraro, F., Cubellis, M. V., Vitagliano, L., Francese, M., Zagari, A., Rotoli, B., Filosa, S., & Martini, G. (1997). Molecular characterization of G6PD deficiency in Southern Italy: Heterogeneity, correlation genotype-phenotype and description of a new variant (G6PD Neapolis). British Journal of Haematology, 98(1), 41-46.