Hereditary Haemochromatosis

Flowchart of Advice for asymptomatic relatives opens a new window

Molecular testing

Molecular lab will test for two common variants (C282Y/Cys282Tyr and H63D/His63Asp) & report results by 4-6 weeks directly to referring clinician.

• 1x EDTA tube
• Complete molecular genetic test request form opens a new window with
  • Referring clinician’s details.
  • Request: “HFE gene test”. 
  • If patient has a relative with hereditary haemochromatosis, provide details of the affected relative’s name, DOB, region where they live, family mutation details (if known).
  • If patient is being tested due to symptoms, please note this on the lab form.  

Biochemistry testing

• Test for transferrin saturation and ferritin levels
  •  brown cap, gel clotted tube sample with local haematology/ biochemistry form and follow high ferritin guidelines (link below).  

Interpretation of genetic test results & guidance on high ferritin levels

Please see NHS Lothian Haematology Service guidance:

• High ferritin guidelines Lothian opens a new window