A new glucose-6-phosphate dehydrogenase variant with congenital nonspherocytic hemolytic anemia (G6PD Genova) - Biochemical characterization and mosaicism expression in the heterozygote

Gian Franco Gaetani, Silvana Galiano, Cecilia Melani, Maurizio Miglino, Gian Luca Forni, Giuseppe Napoli, Lucia Perrone, Anna Maria Ferraris

Research output: Contribution to journalArticlepeer-review

Abstract

A new deficient variant of glucose-6-phosphate dehydrogenase (G6PD) causing severe congenital nonspherocytic hemolytic anemia (CNSHA) is described. The variant enzyme, characterized by slow electrophoretic mobility, extreme in vivo and in vitro lability, high Km for G6P and strongly acidic pH optimum, appears to be unique, and has been designated G6PD Genova. Investigation of an obligate heterozygote using various cytochemical, biochemical and recombinant-DNA techniques showed G6PD mosaicism in the erythrocytes and leukocytes. Therefore, the presence of a disadvantageous mutation at one Gd locus did not determine selection in favor of the normal allele in the heterozygote's hemopoietic cells.

Original languageEnglish
Pages (from-to)337-340
Number of pages4
JournalHuman Genetics
Volume84
Issue number4
DOIs
Publication statusPublished - Mar 1990

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

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