Balanced by iron. Hereditary hemochromatosis and celiac disease

Abstract

We present the case of a healthy 14-year-old adolescent who was referred to our hospital for an incidental alteration of the iron profile (Fe 225 ug/dl, transferrin 186 mg/dl, IST 63.93 %, ferritin 253 ng/ml). The blood count, proteinogram and renal, lipid and liver function tests were in the normal range. Abdominal ultrasound was requested with no findings of interest. The genetic analysis for hereditary hemochromatosis (HH) confirmed that the patient was homozygous for the C282Y mutation.