Abstract 46
Background: The C282Y HFE gene mutation is associated with hereditary hemochromatosis, characterized by increased intestinal iron absorption. A high transferrin saturation (TFS) has been found in heterozygous individuals (about 1 of 10 in Northern Europe). Intestinal iron absorption is highly variable in very low birthweight (VLBW) infants (birthweight < 1500 g).
Hypothesis: TFS >80% in VLBW infants is associated with the HFE gene mutation.
Subjects: 143 VLBW infants during their intensive care. All infants received enteral iron in an increasing daily dosage from 3 to 9 mg/kg and recombinant erythropoietin.
Methods: DNA extraction and PCR from dried blood which was sampled routinely on filter paper for screening of inborn errors of metabolism. For anonymity, all samples were coded before measurements.
Results: No infant was homozygous for the C282Y mutation, while 6 (4.2%) infants were heterozygous. TFS >80% at least once during intensive care was observed in 10 (7.0%) infants. No infant was positive for both, a TFS >80% and the mutation.
Conclusion: In VLBW infants up to term, increased TFS is not associated with the C282Y HFE gene mutation.
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Maier, R., Witt, H., Mönch, E. et al. HFE gene mutation and transferrin saturation in very low birthweight infants. Pediatr Res 45, 894 (1999). https://doi.org/10.1203/00006450-199906000-00064
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DOI: https://doi.org/10.1203/00006450-199906000-00064