Haemochromatosis

Background

Haemochromatosis, one of the commonest genetic disorders, causes accumulation of excess iron in many organs, including the liver, where it can lead to cirrhosis which may result in liver failure, liver cancer and death.
Patients diagnosed and successfully treated (“de-ironed”) prior to irreversible end-organ damage have an excellent prognosis.
Ferritin can be elevated in patients without iron overload in response to inflammation and in patients with alcohol-related liver disease (ALD) and non-alcoholic fatty liver disease (NAFLD).
Transferrin saturation shows considerable inter-sample variation, which can be reduced using a fasting sample.
Only homozygous major mutations (C282Y/C282Y), and occasionally compound heterozygous mutations (C282Y/H63D) cause significant iron overload.
Carriers of either mutation (C282Y/wild type and H63D/wild type) or homozygous minor mutations (H63D/H63D) do not cause significant iron overload.

Advice

Patients with unexplained abnormal liver function tests (LFTs) should be screened for iron overload by checking serum ferritin (+ transferrin saturation).
Patients with modestly elevated ferritin (under 500ug/L) and transferrin saturation not raised (under 50%) are very unlikely to have haemochromatosis.
Patients with suspected haemochromatosis should have their haemochromatosis gene checked (red EDTA blood sample to haematology for forwarding to Molecular Genetics lab in Dundee).

Who to refer, who not to refer, how to refer

Who to refer:

Suspected haemochromatosis: refer to Gastroenterology

SCI Gateway > Borders General hospital > Gastroenterology > Borders General referral

Who not to refer:

Ferritin under 500 and transferrin saturation under 50: seek alternative explanation for raised ferritin.
Carriers of either mutation (C282Y or H63D) or homozygotes for the H63D mutation without iron overload

Patients with haemochromatosis and iron overload are treated by regular venesection.

This takes place at the:

Borders general hospital: Contact GI nurses to arrange
Appropriate community hospitals: Arranged via GI nurses at BGH
Appropriate, stable patients will be put in contact with the Blood Transfusion Service for ongoing venesection when appropriate

The treatment phase requires weekly venesection, often for a prolonged period. Once successfully “de-ironed” (target ferritin 50-100ug/L) they enter the maintenance phase requiring infrequent venesection, on average 3-4 times per year. The venesection service may on occasion ask primary care to check patients’ FBC and ferritin. The service will then advise patients regarding venesection. First degree relatives of patients with haemochromatosis should be screened for the disease by measuring ferritin, transferrin saturation and HFE genotype. (Children of patients do not need to be tested until they reach adulthood.)