Clinical and laboratory observations
Acute hemolysis and severe neonatal hyperbilirubinemia in glucose-6-phosphate dehydrogenase–deficient heterozygotes,☆☆

https://doi.org/10.1067/mpd.2001.115312Get rights and content

Abstract

Two premature female infants had severe hyperbilirubinemia caused by hemolysis. Both neonates were heterozygotes for the glucose-6-phosphate dehydrogenase Mediterranean mutation as determined by DNA analysis. Glucose-6-phosphate dehydrogenase–deficient heterozygotes may be susceptible to the complications of this enzyme deficiency. (J Pediatr 2001;139:137-40)

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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  • Determination of optimal cutoff value to accurately identify glucose-6-phosphate dehydrogenase-deficient heterozygous female neonates

    2013, Clinica Chimica Acta
    Citation 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.

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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.

☆☆

Reprint requests: Michael Kaplan, MBChB, Department of Neonatology, Shaare Zedek Medical Center, PO Box 3235, Jerusalem 91031, Israel.

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