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Glucose‐6‐Phosphate Dehydrogenase Variants from Italian Subjects Associated with Severe Neonatal Jaundice
Author(s) -
Sansone G.,
Perroni L.,
Yoshida A.
Publication year - 1975
Publication title -
british journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.907
H-Index - 186
eISSN - 1365-2141
pISSN - 0007-1048
DOI - 10.1111/j.1365-2141.1975.tb00846.x
Subject(s) - jaundice , glucose 6 phosphate dehydrogenase deficiency , glucose 6 phosphate dehydrogenase , medicine , gastroenterology , dehydrogenase , pediatrics , endocrinology , biology , biochemistry , enzyme
S ummary . 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 Gd Debrousse‐like , Gd Gallura and Gd Agrigento .