Who should be tested?

Consider testing for haemochromatosis (HH) in:

  • Family members of HH patients.
  • Patients with liver disease of unknown cause, including patients with suspected alcoholic liver disease.
  • Chronic unexplained fatigue, weakness and abdominal pain.
  • Asymptomatic patients with incidental elevated LFT, ferritin or hepatomegaly.
  • Early onset arthralgia (joint pain), atypical arthropathy.
  • Early onset male impotency, early menopause and loss of libido in women.
  • Early onset arrhythmias and cardiomyopathy.
  • Unexplained increasing skin pigmentation or ‘permanent tan’.
  • Type 2 diabetes mellitus, especially those diagnosed at an early age, with elevated LFT, hepatomegaly, early-onset sexual dysfunction or abnormal iron markers.

Relatives who are at risk should be tested. This is absolutely essential in the case of brothers and sisters (siblings) as they stand at least a 1 in 4 chance of being affected. Early detection and treatment will prevent all the complications of the disease. 

As haemochromatosis is an inherited disorder, family members of someone diagnosed with haemochromatosis are at increased risk of also having the condition. It is important to alert these family members and tell them what they need to do about it. Since the carrier rate is 1 in 5, it is worthwhile screening the spouses of people with Haemochromatosis.    

N.B. Screening leads to early diagnosis and treatment, preventing complications developing from this frequent and potentially fatal genetic disorder.