[Neonatal screening of glucose-6-phosphate dehydrogenase deficiency in umbilical cord blood].
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.
Laboratoire d'immunologie-biochimie, Centre hospitalier Delafontaine, 93205 Saint-Denis.
F
F
Kaddari
M
M
Sawadogo
J
J
Sancho
M
M
Lelong
D
D
Jaby
C
C
Paulin
K
K
Nkana
M
M
Cailliez
D000208:Acute Disease; D000743:Anemia, Hemolytic / Q000235:genetics; D001219:Aspartate Aminotransferases / Q000032:analysis; D002908:Chronic Disease; D004905:Erythrocyte Aging; D004912:Erythrocytes / Q000737:chemistry / Q000201:enzymology; D005260:Female; D005312:Fetal Blood / Q000737:chemistry / Q000201:enzymology; D005602:France / Q000453:epidemiology; D005787:Gene Frequency; D014644:Genetic Variation / Q000235:genetics; D005954:Glucosephosphate Dehydrogenase / Q000032:analysis*; D005955:Glucosephosphate Dehydrogenase Deficiency / Q000175:diagnosis* / Q000453:epidemiology / Q000235:genetics / Q000378:metabolism; D006801:Humans; D015994:Incidence; D007231:Infant, Newborn; D007567:Jaundice, Neonatal / Q000235:genetics; D008297:Male; D015997:Neonatal Screening / Q000379:methods* / Q000592:standards; D015995:Prevalence; D012016:Reference Values; D012680:Sensitivity and Specificity; D017678:Sex Distribution
D005954:Glucosephosphate Dehydrogenase; D001219:Aspartate Aminotransferases