Genetic Haemochromatosis:
Guidelines for HFE Gene Screening
Individuals with symptoms or signs for which haemochromatosis might be considered in the
differential diagnosis are candidates for investigation. Early symptoms of haemochromatosis
may be non-specific. Thus genetic testing is not appropriate without first assessing body
iron status. Widely accepted criteria for excessive body iron are as follows:

>400 μg/L in males
Serum ferritin
>150 μg/L in females under 55yrs
>300 μg/ in females over 55yrs

Fasting transferrin saturation
>55%
Transferrin saturation should be assessed in the fasting state since serum iron is a
physiologically labile analyte. Since ferritin is an acute phase reactant, the results of iron
profile investigations must be interpreted within the context of the individual’s clinical status.
Individuals with a positive family history of clinically apparent haemochromatosis have a
higher risk of developing overt disease and, therefore, are candidates for investigation.
Criteria for HFE mutation screening:

Patients with evidence of iron overload and clinical features suspicious of
haemochromatosis.

First degree relatives of an index case who is homozygous for C282Y or compound
heterozygous for C282Y/H63D.
Sample to send: Please send a routine EDTA sample (FBC tube) and haematology request
form with full clinical details to:
Haematology Laboratory,
Belfast City Hospital,
Lisburn Road,
Belfast, BT9 7AB
Lab. tel. no. 02890-329241 Ext. 3097
Please consent the patient for this genetic test. Ask the patient to sign the request form as
evidence of consent and in the medical notes, document that testing has been discussed
and consent obtained.
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What to do with the most commonly encountered abnormal results:

C282Y heterozygote with normal iron studies - no action required.

H63D heterozygote with normal iron studies - no action required.

C282Y homozygote with normal iron studies - check iron status every 1-2 years.

C282Y/H63D compound heterozygote with normal iron studies - check iron status
every 1-2 years.

C282Y homozygote with raised iron stores - refer according to your usual referral
patterns

C282Y/H63D compound heterozygote with raised iron stores - refer according to
your usual referral patterns
Dr Robert Cuthbert, Consultant, Haematologist, Belfast City Hospital
Dr Neil McDougall, Consultant Hepatologist, Royal Victoria Hospital
October 2010
Guideline updated for Southern Trust by Dr HK Boyd, May 2012
Reviewed:
August 2012
Review date: August 2014
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