Autor: |
Virginie Scotet, Philippe Saliou, Marianne Uguen, Carine L’Hostis, Marie-Christine Merour, Céline Triponey, Brigitte Chanu, Jean-Baptiste Nousbaum, Gerald Le Gac, Claude Ferec |
Jazyk: |
angličtina |
Rok vydání: |
2018 |
Předmět: |
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Zdroj: |
BMC Pregnancy and Childbirth, Vol 18, Iss 1, Pp 1-8 (2018) |
Druh dokumentu: |
article |
ISSN: |
1471-2393 |
DOI: |
10.1186/s12884-018-1684-6 |
Popis: |
Abstract Background 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. Methods 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. Results 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 |
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