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A new glucose-6-phosphate dehydrogenase variant with congenital nonspherocytic hemolytic anemia (G6PD Genova)

✍ Scribed by Gian Franco Gaetani; Silvana Galiano; Cecilia Melani; Maurizio Miglino; Gian Luca Forni; Giuseppe Napoli; Lucia Perrone; Anna Maria Ferraris

Publisher
Springer
Year
1990
Tongue
English
Weight
405 KB
Volume
84
Category
Article
ISSN
0340-6717

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✦ Synopsis

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.

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