Clinical and laboratory observationsAcute hemolysis and severe neonatal hyperbilirubinemia in glucose-6-phosphate dehydrogenase–deficient heterozygotes☆,☆☆
Section snippets
Patient 1
A female first twin was born at 34 weeks’ gestation with a birth weight of 2114 g. The parents were Sephardic Jews whose families had immigrated to Israel from Iraq. The mother has epilepsy and had been treated with carbamazepine. The mother’s and baby’s blood groups were identical, B Rh-positive. The result of a direct Coombs’ test on the baby’s blood was negative. The result of a qualitative color reduction G-6-PD screening test (Kit No. 400, Sigma Diagnostics, St Louis, Mo), performed
DISCUSSION
In 1989, the World Health Organization Working Group suggested that G-6-PD–deficient heterozygotes have sufficient enzymatic activity to protect them from the consequences of the enzyme deficiency.9 They determined the need to identify heterozygotes primarily to advise them regarding care of male, potentially G-6-PD–deficient, offspring. However, these recommendations were most likely based on information collected before the era of molecular diagnosis. Using molecular means of genotype
Acknowledgements
We thank Ms Terri Gerhart and Mr Ronald J. Wong for technical assistance.
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Cited by (54)
G6PD deficiency in females with neonatal revelation. Report of four cases
2017, Archives de PediatrieDetermination of optimal cutoff value to accurately identify glucose-6-phosphate dehydrogenase-deficient heterozygous female neonates
2013, Clinica Chimica ActaCitation Excerpt :Many female heterozygotes may have mild to moderate reduction of G6PD activity in red cells, from 20% to 60% of residual enzyme activity, and they are classified as having partial deficiency [20,21]. They are at an increased risk of hemolysis (relative risk 2.26) as well as deficient homozygote (relative risk 2.68) and may develop the disease if they are not appropriated managed at early stage [22,23]. Several tests are available for the detection of G6PD deficiency, but only a few reliably detect heterozygous females.
Unexplained extreme hyperbilirubinemia among neonates in a multihospital healthcare system
2013, Blood Cells, Molecules, and DiseasesScreening for glucose-6-phosphate dehydrogenase deficiency in newborns - Practical considerations
2012, Journal of Pediatrics
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Supported in part at the Shaare Zedek Medical Center by the Golden Charitable Trust, London, UK, at The Scripps Research Institute by National Institutes of Health (NIH) grant HL25552, and at Stanford University by NIH grant M01-RR00070 (the General Clinical Research Center Program), the Hess Research Fund, and the Mary L. Johnson Research Fund.
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Reprint requests: Michael Kaplan, MBChB, Department of Neonatology, Shaare Zedek Medical Center, PO Box 3235, Jerusalem 91031, Israel.