Clinical features, diagnosis and treatment of hereditary hemochromatosis: a literature review

Martyna Vyčaitė1, Kotryna Laukaitytė1, Vitalija Petrenkienė2

1Lithuanian University of Health Sciences, Faculty of Medicine, Kaunas, Lithuania

2Hospital of the Lithuanian University of Health Sciences Kaunas Clinics, Department of Gastroenterology, Kaunas, Lithuania


Background. Hereditary hemochromatosis (HH) is a genetic disease characterised by increased transferrin saturation and liver iron overload, in the absence of anaemia and/or reticulocytosis. HH is the most common autosomal recessive disorder in whites, with a prevalence of 1 in 300 to 500 individuals. Males are more frequently affected than females and disease prevalence increases with age. 

Aim: to review the clinical features, diagnosis and treatment of hereditary hemochromatosis. 

Methodology. Literature sources were selected from PubMed database following dates from 2016 to 2022 using keywords and their combinations: Hereditary hemochromatosis, Hemochromatosis, HFE gene, phlebotomy, p.Cys282Tyr, cardiac hemochromatosis, hemochromatosis classification, hepatic iron overload.

Results. Clinical HFE hemochromatosis is characterized by excessive storage of iron in the liver, skin, pancreas, heart, joints, and anterior pituitary gland. In most cases, the disorder can be easily diagnosed, particularly since the advent of genetic testing, and readily treated by phlebotomy. All patients with HH need to be non-invasively assessed for the presence of liver fibrosis at diagnosis to guide appropriate treatment and follow-up. Dietary and lifestyle modifications can help to reduce iron accumulation and to prevent or limit organ damage and disease complications. 

Conclusions. Early diagnosis is very important for the course of the patient’s disease, as timely treatment with repeated phlebotomies helps prevent its progression and liver cirrhosis. Patients diagnosed with hemochromatosis should have life-long follow-up of ferritin and transferrin saturation levels in blood serum, monitor iron excess in organs and their pathology through radiological examinations, and continue regular treatment with phlebotomies.

Keywords: hereditary hemochromatosis, HFE gene, phlebotomy, liver cirrhosis. 

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