Assessment of neonatal iron store and HFE gene mutations

Background: The association between iron stores (Fe) and HFE gene polymorphisms on high-risk neonates is shown. Methods: We included newborns with high perinatal risk. Newborns were divided into three groups for measurements of serum ferritin (SF): iron overload (IO) with SF 1000 mu g/L, normal iron stores (NIS) with SF 154- 1000 mu g/L and low iron stores (LIS) with SF < 154 mu g/L. We used real-time PCR for identifi cation of polymorphisms C282Y, H63DE, and S65C of the HFE gene. Results: We studied 97 newborns with IO in 24 cases (ratio 0.247) and SF 1789 mu g/L (95% CI 1376-2201), NIS in 36 cases (0.371), and SF of 461 mu g/L (389-533) and LIS in 37 cases (0.381) and SF 82 mu g/L (69-96). There were no cases detected for C282Y or S65C mutations. We identified 18 neonates with H63D HFE variant (gene frequency 0.185) with heterozygous condition (H63D/WT) in 12 cases (gene frequency 0.124) and homozygote (H63D/H63D) in six cases (gene frequency 0.062). H63D allele frequency was 0.092. The HFE H63D variant showed no association for comparing infants with NIS vs. LIS (OR 1.2, 95% CI 0.3-4.3) and NIS vs. IO newborn infant (OR 2.5, 0.7-9.2). Conclusions: In high-risk neonates similar to 25% show IO even with the possible selection bias. HFE gene variants do not influence on the neonatal iron stores. (c) 2013 Hospital Infantil de Mexico Federico Gomez. Published by Masson Doyma Mexico S.A. All rights reserved.