Abstract
Background Characteristics of cohorts of individuals aged ≤17 years with homeostatic iron regulator (HFE) p.C282Y (rs1800562) homozygosity, a common hemochromatosis genotype, have not been reported. Methodology We retrospectively tabulated characteristics of white individuals aged ≤17 years with p.C282Y homozygosity. Individuals were not recruited for this study. We defined transferrin saturation (TS) >45%, serum ferritin (SF) >300 µg/L (M) and >200 µg/L (F) as elevated and liver iron grade 3 or 4, hepatic iron index >1.9 µmol Fe/g dry weight liver/y, and phlebotomy-mobilized iron >1.0 g (M) and >0.3 g (F) as increased. Results There were nine males and six females with a mean age of 12 ± 4 years (range = 5-17 years). The mean age of 10 probands (13 ± 3 years) was greater than that of five individuals discovered in family studies (9 ± 4 years) (p = 0.0403). Presenting manifestations of probands included fatigue/lethargy (5), elevated TS (2), and polycystic ovary syndrome, amenorrhea, and diabetes (2). In 15 individuals, the mean TS was 65 ± 23%. TS was elevated in 11 (73.3%) individuals aged 5-17 years. In 14 individuals, the mean SF was 262 ± 289 µg/L. SF was elevated and liver and phlebotomy-mobilized iron were increased in two male and three female probands aged 13-16 years (5/14 individuals, 35.7%). No individual had advanced hepatic fibrosis, arthropathy, hypogonadism, cardiomyopathy, or hyperpigmentation. Conclusions We conclude that five individuals aged 13-16 years (5/14 individuals, 35.7%) had increased liver and phlebotomy-mobilized iron.