Hereditary haemochromatosis: A review

Abstract

Hereditary haemochromatosis (HH) is the commonest genetic condition among populations of Northern European ancestry. Mutations to the HFE gene leads to uninhibited intestinal iron absorption followed by excess iron deposition in various organs such as the liver, pituitary gland, pancreas and heart. Due to variable biochemical and clinical penetrance, not all individuals with C282Y homozygosity will develop HH. Early diagnosis is crucial to prevent morbidity and mortality but is challenging with most patients not exhibiting any symptoms. Patients with HH should undergo clinical assessment to evaluate their symptoms, presence of organ damage and hepatic fibrosis using transient elastography. Patients who are negative for the HFE mutations but have significant liver iron loading seen on magnetic resonance imaging should be reviewed by a specialist and considered for genetic tests looking for the rarer non-HFE mutations. HH patients are predominantly treated with venesection which can improve symptoms, hepatic fibrosis and mortality.