UMR1078 "Génétique, Génomique Fonctionnelle et Biotechnologies", Inserm, EFS, Université de Brest, ISBAM, 22 avenue Camille Desmoulins, 29200, Brest, France.
Laboratoire d'Hygiene et de Sante Publique, Hopital Morvan, Brest, France.
BMC Pregnancy Childbirth. 2018 Feb 17;18(1):53. doi: 10.1186/s12884-018-1684-6.
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. 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.
One 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.
Our 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 (e = 1.50, P = 0.047). This relationship disappeared after adjustment for confounding factors (e = 1.35, P = 0.088).
Our 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.
遗传性血色病是一种铁代谢的先天性错误，与调节铁调素合成的缺陷有关。这种常染色体隐性疾病在女性中的表现通常比男性晚。尽管普遍认为妊娠和月经是抵消女性铁积累的因素之一，但尚未有流行病学研究支持这一假说。我们的研究目的是评估妊娠对主要 HFE p.[Cys282Tyr];[Cys282Tyr]基因型表达的影响。
我们研究了在 2004 年至 2011 年期间在法国西部布列塔尼地区的一个血液中心参加放血计划的 140 名纯合子 p.Cys282Tyr 女性。在检查了我们的研究中女性的疾病表现是否晚于男性后，使用多变量回归分析评估了妊娠与铁过载之间的关联。
我们的研究证实，患有遗传性血色病的女性的诊断时间晚于同期接受治疗的男性（52.6 岁与 47.4 岁，P<0.001）。与无妊娠相比，至少一次妊娠与较低的铁标志物水平无关。相比之下，至少一次妊娠的女性去除的铁量明显更高（e=1.50，P=0.047）。调整混杂因素后，这种关系消失（e=1.35，P=0.088）。
我们的研究表明，妊娠状态对铁标志物水平没有影响，并且妊娠不是促进铁积累的保护因素。我们的结果与最近的实验数据一致，这些数据表明，男性和女性之间观察到的疾病表现差异可能由其他因素解释，例如激素。
