Hyperferritinaemia (Guidelines)

Ferritin is high if over 200 microgram/L in women and over 300 microgram/L in men.

Causes

• Any infection or inflammation including autoimmune conditions
• Liver disease and metabolic syndrome
• Malignancy
• Genetic haemochromatosis
• Renal failure
• Chronic blood transfusion
• Thalassaemia (even without blood transfusion)
• Myelodysplasia
• Porphyria cutanea tarda
• Inherited anaemias including sideroblastic anaemia, congenital dyserythropoietic anaemia and some inherited haemolytic syndromes
• Hereditary hyperferritinaemia cataract syndrome
• Haemophagocytic lymphohistiocytosis
• Gaucher’s disease
• Acaeruloplasminaemia

We do not see patients with high ferritin in haematology unless there is a suspected haematological cause such as thalassaemia, transfusion overload, other inherited anaemia or myelodysplasia. This should be obvious from the history or blood count.

Follow the NHS Highland Haemochromatosis guidance: LIVER (Guidelines) | Right Decisions (scot.nhs.uk). Further information is available from the British Society for Haematology:

• Investigation and management of a raised serum ferritin
• Diagnosis and therapy of genetic haemochromatosis
• Updates in Haemochromatosis - The British Society of Gastroenterology (bsg.org.uk)

If genetic haemochromatosis is suspected due to hyperferritinaemia and transferrin saturations above 40% in women or 50% in men then check HFE genotyping. This is available from primary care. If the patient is homozygous for HFE C282Y mutation or a compound heterozygote C282Y/H36D then refer to the GI Consultant team. There are rare iron loading syndromes not due to mutations in the HFE gene and therefore if these are suspected (e.g. persistently elevated transferrin saturations above 40% in women or 50% in men or ferritin above 1000 microgram/L and no secondary cause) then you may wish to discuss this with the GI Consultant team in the first instance.