Iron Phenotypes and Reports of Menses, Pregnancies, and Live Births in Females With HFE p.C282Y Homozygosity and HFE wt/wt: A Cross‐Sectional Study

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ABSTRACT Objective To compare iron phenotypes and questionnaire reports about menses, pregnancies, and live births in females with HFE p.C282Y (rs1800562) homozygosity (Y/Y) and HFE wt/wt (absence of p.C282Y and p.H63D (rs1799945) (wt/wt)). Methods We compared post‐screening iron phenotypes and questionnaire reports of self‐identified non‐Hispanic white females aged ≥ 25 y in a cross‐sectional study. Results There were 426 females (153 Y/Y, 273 wt/wt). Median ages were 50 y (25, 86) and 55 y (25, 92), respectively ( p = 0.0019). Median transferrin saturation, median serum ferritin, and provisional iron overload prevalence were greater in Y/Y ( p ≤ 0.0001, each comparison). Prevalences of documented iron overload (3.3% Y/Y vs. 0.7% wt/wt), iron overload‐related disease (2.0% vs. 0.4%, respectively), and iron deficiency (3.9% vs. 2.6%, respectively) did not differ significantly. Median ages at menarche (13 y Y/Y vs. 13 y wt/wt) and menopause (50 y vs. 49 y, respectively) did not differ significantly. Reports of “in‐between bleeding?” (24.2% Y/Y vs. 25.2% wt/wt), “early stopping of periods?” (11.8% vs. 13.9%, respectively), and “had a hysterectomy?” (30.1% vs. 35.9%, respectively) were not significantly different. Respective percentage pairs of females with Y/Y and wt/wt who reported 0, 1, 2, 3, or ≥ 4 pregnancies (or live births) did not differ significantly. Live births/pregnancies were 287/363 (79.1%, Y/Y) and 534/673 (79.3%, wt/wt) ( p = 0.7549). Conclusion Median transferrin saturation, median serum ferritin, and provisional iron overload prevalence are greater in females with HFE p.C282Y homozygosity than those with HFE wt/wt, although iron deficiency prevalence and reports of menses, pregnancies, and live births are similar.

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