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
James C. Barton, J. Clayborn Barton, Ronald T. ActonABSTRACT
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.