Abstract
BackgroundHFE hemochromatosis is an inborn error of iron metabolism linked to a defect in the regulation of hepcidin synthesis. This autosomal recessive disease typically manifests later in women than men. Although it is commonly stated that pregnancy is, with menses, one of the factors that offsets iron accumulation in women, no epidemiological study has yet supported this hypothesis. The aim of our study was to evaluate the influence of pregnancy on expression of the predominant HFE p.[Cys282Tyr];[Cys282Tyr] genotype.MethodsOne hundred and forty p.Cys282Tyr homozygous women enrolled in a phlebotomy program between 2004 and 2011 at a blood centre in western Brittany (France) were included in the study. After checking whether the disease expression was delayed in women than in men in our study, the association between pregnancy and iron overload was assessed using multivariable regression analysis.ResultsOur study confirms that women with HFE hemochromatosis were diagnosed later than men cared for during the same period (52.6 vs. 47.4 y., P < 0.001). Compared to no pregnancy, having at least one pregnancy was not associated with lower iron markers. In contrast, the amount of iron removed by phlebotomies appeared significantly higher in women who had at least one pregnancy (eβ = 1.50, P = 0.047). This relationship disappeared after adjustment for confounding factors (eβ = 1.35, P = 0.088).ConclusionsOur study shows that pregnancy status has no impact on iron markers level, and is not in favour of pregnancy being a protective factor in progressive iron accumulation. Our results are consistent with recent experimental data suggesting that the difference in disease expression observed between men and women may be explained by other factors such as hormones.
Highlights
HFE hemochromatosis is an inborn error of iron metabolism linked to a defect in the regulation of hepcidin synthesis
Before assessing the influence of pregnancy, we explored the impact of gender on disease expression
We investigated the association between pregnancy and the degree of iron overload using linear regression analysis
Summary
HFE hemochromatosis is an inborn error of iron metabolism linked to a defect in the regulation of hepcidin synthesis This autosomal recessive disease typically manifests later in women than men. HFE-related hemochromatosis (or type 1 hemochromatosis; OMIM #235200) is an inborn iron metabolism disorder that is common in Caucasian populations [1, 2]. It is due to a defective regulation of the synthesis of hepcidin, the key regulator of HFE hemochromatosis is inherited as an autosomal recessive trait and is mainly associated with the HFE p.[Cys282Tyr];[Cys282Tyr] genotype [7] The penetrance of this genotype is clearly incomplete [8,9,10], and its expression is influenced by genetic and environmental factors that may increase or reduce the iron burden [8, 11, 12]. HFE hemochromatosis women present with a less severe clinical profile, notably
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