Clinical and Laboratory Characteristics of Individuals Aged 17 Years or Younger With Homeostatic Iron Regulator (HFE) p.C282Y Homozygosity, a Common Hemochromatosis Genotype
December 2023
in “
Curēus
”
TLDR Most children with a common hemochromatosis genotype had elevated iron levels but no severe symptoms.
This study examined 15 individuals aged ≤17 years with HFE p.C282Y homozygosity, a common hemochromatosis genotype, and found that 73.3% had elevated transferrin saturation (TS) and 35.7% had elevated serum ferritin (SF) with increased liver and phlebotomy-mobilized iron. Common symptoms included fatigue/lethargy, PCOS, amenorrhea, diabetes, and ADHD, but no cases of advanced hepatic fibrosis, arthropathy, hypogonadism, cardiomyopathy, or hyperpigmentation were observed. The study suggests considering p.C282Y homozygosity in the differential diagnosis of elevated TS in asymptomatic children, though it is limited by its small sample size and lack of genetic evaluations for other mutations.
