title: Glucose-6-phosphate dehydrogenase variants from Italian subjects associated with severe neonatal jaundice.
abstract: Screening for the G6PD deficiency was carried out at the Maternity Division of the Galliera Hospital in Genoa, Italy. Two groups of subjects with hyperbilirubinaemia of non-immunological origin were examined: (a) 302 newborn babies of Sardinian extraction (on cord blood) and (b) 201 newborn babies of south Italian ancestry (on peripheral blood). Among 503 subjects, 43 showed an enzyme deficiency; in 39 the defect was of the Mediterranean type. In one case, previously described, the enzyme was of the A- type. In the remaining cases three different variants were identified. In the present work these three cases, each with severe neonatal jaundice, are reported. Their parents originated from Calabria, from Sardinia and from Sicily. The abnormal enzymes are respectively designated as GdDcbrousse-like,, GdGallura and GdAgrigento.
mesh_terms: D004592:Electrophoresis, Starch Gel; D014644:Genetic Variation; D005954:Glucosephosphate Dehydrogenase / Q000097:blood; D005955:Glucosephosphate Dehydrogenase Deficiency / Q000097:blood* / Q000150:complications / Q000235:genetics; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007558:Italy; D007567:Jaundice, Neonatal / Q000097:blood / Q000150:complications*; D008297:Male
chemical_list: D005954:Glucosephosphate Dehydrogenase