caa a22 4500 467983704 CHVBK 20180323112525.0 cr unu---uuuuu 170328e19900301xx s 000 0 eng 10.1007/BF00196229 doi (NATIONALLICENCE)springer-10.1007/BF00196229 A new glucose-6-phosphate dehydrogenase variant with congenital nonspherocytic hemolytic anemia (G6PD Genova) [Elektronische Daten] Biochemical characterization and mosaicism expression in the heterozygote [Gian Gaetani, Silvana Galiano, Cecilia Melani, Maurizio Miglino, Gian Forni, Giuseppe Napoli, Lucia Perrone, Anna Ferraris] Summary: 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. Springer-Verlag, 1990 Gaetani Gian Division of Hematology, University of Genoa, ISMI, Viale Benedetto XV, 6, I-16132, Genoa, Italy aut Galiano Silvana Division of Hematology, University of Genoa, ISMI, Viale Benedetto XV, 6, I-16132, Genoa, Italy aut Melani Cecilia Division of Hematology, University of Genoa, ISMI, Viale Benedetto XV, 6, I-16132, Genoa, Italy aut Miglino Maurizio Division of Hematology, University of Genoa, ISMI, Viale Benedetto XV, 6, I-16132, Genoa, Italy aut Forni Gian Division of Pediatrics, Ospedale Galliera, I-16128, Genoa, Italy aut Napoli Giuseppe Division of Pediatrics, Ospedale Galliera, I-16128, Genoa, Italy aut Perrone Lucia Division of Pediatrics, Ospedale Galliera, I-16128, Genoa, Italy aut Ferraris Anna Division of Hematology, University of Genoa, ISMI, Viale Benedetto XV, 6, I-16132, Genoa, Italy aut Human Genetics Springer-Verlag 84/4(1990-03-01), 337-340 0340-6717 84:4<337 1990 84 439 https://doi.org/10.1007/BF00196229 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/BF00196229 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Gaetani Gian Division of Hematology, University of Genoa, ISMI, Viale Benedetto XV, 6, I-16132, Genoa, Italy aut NATIONALLICENCE 700 1- Galiano Silvana Division of Hematology, University of Genoa, ISMI, Viale Benedetto XV, 6, I-16132, Genoa, Italy aut NATIONALLICENCE 700 1- Melani Cecilia Division of Hematology, University of Genoa, ISMI, Viale Benedetto XV, 6, I-16132, Genoa, Italy aut NATIONALLICENCE 700 1- Miglino Maurizio Division of Hematology, University of Genoa, ISMI, Viale Benedetto XV, 6, I-16132, Genoa, Italy aut NATIONALLICENCE 700 1- Forni Gian Division of Pediatrics, Ospedale Galliera, I-16128, Genoa, Italy aut NATIONALLICENCE 700 1- Napoli Giuseppe Division of Pediatrics, Ospedale Galliera, I-16128, Genoa, Italy aut NATIONALLICENCE 700 1- Perrone Lucia Division of Pediatrics, Ospedale Galliera, I-16128, Genoa, Italy aut NATIONALLICENCE 700 1- Ferraris Anna Division of Hematology, University of Genoa, ISMI, Viale Benedetto XV, 6, I-16132, Genoa, Italy aut NATIONALLICENCE 773 0- Human Genetics Springer-Verlag 84/4(1990-03-01), 337-340 0340-6717 84:4<337 1990 84 439 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer