H63D homozygotes with hyperferritinaemia: Is this genotype, the primary cause of iron overload?
The lack of additional mutations in our H63D homozygotes suggests that this genotype could be the primary cause of iron overload in these patients. Despite our results, we cannot entirely discount the possibility that one or more genetic modifier factor exists, simply because we were unable to find it, although there was a precedent in the HFE gene. Genetic modifier factors have been described for C282Y mutations in the HFE gene, but at the present time they have never been reported in H63D homozygotes.
Based on the present study, it appears that natural drying is a safe and effective means of umbilical cord care in preterm infants.