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Cord blood G‐6‐PD activity by quantitative enzyme assay and fluorescent spot test in Chinese neonates
Author(s) -
FOK TAIFAI,
LAU SUMPING,
FUNG KAMPUI
Publication year - 1985
Publication title -
journal of paediatrics and child health
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.631
H-Index - 76
eISSN - 1440-1754
pISSN - 1034-4810
DOI - 10.1111/j.1440-1754.1985.tb00118.x
Subject(s) - medicine , cord blood , fluorescence , enzyme assay , enzyme , biochemistry , physics , chemistry , quantum mechanics
Glucose‐6‐phosphate dehydrogenase (G‐6‐PD) deficiency is a common X‐linked recessive disorder among the Chinese population. Neonatal screening for this condition is important and with necessary precaution, enzyme deficient infants are less likely to develop severe haemolysis and subsequent kernicterus. Screening of G‐6‐PD deficiency by fluorescent spot test on cord blood samples of 1228 Chinese neonates revealed an incidence of 4.4% in males and 0.35% in females. Simultaneous direct enzyme assay confirmed the sensitivity and specificity of the spot test in the identification of male hemizygotes and female homozygotes. However, the spot test was unsatisfactory in detecting heterozygotes. Even quantitative enzyme assay could detect only 70% of the partially deficient subjects.