Glucose-6-phosphate dehydrogenase variants from Italian subjects associated with severe neonatal jaundice

British Journal of Haematology
G SansoneA Yoshida

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.

References

Jun 1, 1971·The Journal of Clinical Investigation·G StamatoyannopoulosA Akrivakis
Jan 1, 1970·Enzymologia Biologica Et Clinica·C Kissin, J Cotte
Jun 1, 1966·The Journal of Clinical Investigation·P V PintoK E Richardson
Oct 15, 1960·Lancet·D J WEATHERALL
Feb 1, 1963·Archives of Disease in Childhood·A SZEINBERGC SHEBA

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Citations

Jan 1, 1978·Annals of Human Genetics·A Yoshida, E Beutler
Jan 1, 1983·Annals of Human Genetics·A Yoshida, E Beutler
Jul 1, 1989·Annals of Human Genetics·G FiorelliM D Cappellini
Aug 22, 2012·BMC Pediatrics·Bushra MoizMaqbool Qadir

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