Comparisons of iron phenotypes and reports of menses, pregnancies, and live births in women with HFE p.C282Y homozygosity and HFE wt/wt
Year: 2026
Type: preprint
Study design: Observational Study
Abstract: Introduction There is no comparison of iron phenotypes and menses, pregnancies, and live births reports of women with HFE -related hemochromatosis ( HFE p.C282Y (rs1800562) homozygosity) and HFE wt/wt (absence of p.C282Y and HFE p.H63D (rs1799945)). Subjects and Methods We compared phenotypes and reports of non-Hispanic white women women aged ≥25 y in post-population screening evaluations using univariable methods. Results There were 153 p.C282Y/p.C282Y and 273 wt/wt. Median ages were 50 y (25, 86) and 55 y (25, 92), respectively (p=0.0019). Median transferrin saturation (TS), median serum ferritin (SF), and provisional iron overload prevalence were higher in p.C282Y/p.C282Y (p ≤0.0001, each comparison). Prevalences of documented iron overload (3.3% p.C282Y/p.C282Y vs. 0.7% wt/wt), iron overload-related disease (2.0% vs. 0.4%, respectively), and iron deficiency (3.9% vs. 2.6%, respectively) were not significantly different. Median ages at menarche (13 y p.C282Y/p.C282Y vs. 13 y wt/wt) and menopause (50 y vs. 49 y, respectively) were not significantly different. Reports of “in-between bleeding?” (24.2% p.C282Y/p.C282Y vs. 25.2% wt/wt, respectively), “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 women with p.C282Y/p.C282Y 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%, p.C282Y/p.C282Y) and 534/673 (79.3%, wt/wt) (p=0.7549). Conclusions Median TS, median SF, and provisional iron overload prevalence are greater in women with HFE p.C282Y/p.C282Y than those with wt/wt, although reports of menses, pregnancies, and live births are similar.
Source: medRxiv
Institutions: University of Alabama at Birmingham, Brookwood Baptist Health
Language: English
Subfield: Hematology
Field: Medicine
Domain: Health Sciences
Open Access status: green
Funders: Kaiser Permanente, Wake Forest University, University of Minnesota, Deutsches Krebsforschungszentrum, London Health Sciences Centre, National Institutes of Health, University of California, San Diego, University of California, Irvine, National Heart, Lung, and Blood Institute, National Center for Research Resources
Awards: IRON OVERLOAD AND HEREDITARY HEMOCHROMATOSIS--CC, IRON OVERLOAD AND HEREDITARY HEMOCHROMATOSIS STUDY-FIELD, IRON OVERLOAD AND HEREDITARY HEMOCHROMOTOSIS, G2906786098, G3403072832, G4116823146, G4869191443, Howard University General Clinical Research Center, IRON OVERLOAD AND HEREDITARY HEMOCHROMOTOSIS STUDY, G5983771103, IRON OVERLOAD AND HEREDITARY HEMOCHROMATOSIS, IRON OVERLOAD AND HEREDITARY HEMOCHROMATOSIS STUDY, IRON OVERLOAD AND HEREDITARY HEMOCHROMATOSIS, General Clinical Research Center
OpenAlex ID: W7118669808