Clinical and Laboratory Characteristics of Individuals Aged ≤17 Years With Homeostatic Iron Regulator (HFE) p.C282Y Homozygosity, a Common Hemochromatosis Genotype.

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

SUBMITTER: Barton JC 

PROVIDER: S-EPMC10768706 | biostudies-literature | 2023 Dec

REPOSITORIES: biostudies-literature