[Neonatal screening of glucose-6-phosphate dehydrogenase deficiency in umbilical cord blood].

Abstract:

: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.

journal_name

Ann Biol Clin (Paris)

authors

Kaddari F,Sawadogo M,Sancho J,Lelong M,Jaby D,Paulin C,Nkana K,Cailliez M

subject

Has Abstract

pub_date

2004-07-01 00:00:00

pages

446-50

issue

4

eissn

0003-3898

issn

1950-6112

journal_volume

62

pub_type

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