Neonatal screening of glucose-6-phosphate dehydrogenase deficiency in umbilical cord blood
Kaddari, F.; Sawadogo, M.; Sancho, J.; Lelong, M.; Jaby, D.; Paulin, C.; Nkana, K.; Cailliez, M.
Annales de Biologie Clinique 62(4): 446-450
2004
ISSN/ISBN: 0003-3898 PMID: 15297240 Document Number: 568153
Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most frequent enzyme deficiency. It is a sex-linked genetic disease concerning mostly african, mediterranean and far-eastern populations. The main clinical expression is a hemolytic anemia which can be acute or chronic. During the neonatal period the disease may manifest as neonatal jaundice. We have been asked by the neonate department to set up a blood screening test for this deficiency. We have therefore developed a test using umbilical cord blood. The assay of G6PD has been automatised and red blood cell aspartate-amino-transferase (ASAT) chosen as a reference enzyme to evaluate the age of red blood cells. Normal values of G6PD, ASAT and G6PD/ASAT ratio have been calculated from 235 cord samples. Genetic frequency of this deficiency in 2002 was 6% in male and 1% in female newborns.