Canterbury DHB

Context

Clinical Features

Hereditary haemochromatosis in most, but not all cases, means the homozygous inheritance of abnormal HFE genes. This gene is on chromosome 6 and there are two main mutations – C282Y and H63D. C282Y is common in Europeans with 1 in 250 being homozygous for the abnormality. Compound heterozygotes C282Y/H63D are also common. Clinical expression of hereditary haemochromatosis is seen typically in a male with bronzed skin, hepatomegaly, diabetes, arthropathy and heart failure. This picture is rarely seen in clinical practice and a major problem is: what happens to all these HFE282 homozygotes? There should be 1400 in Christchurch alone!

The proponents of screening/venesection believe that detection and venesection prevents patients from presenting with end-stage tissue damage due to iron overload

The sceptics believe that clinical penetrance of the homozygous state is so low (less than 1%) that overt clinical expression of tissue damage due to homozygosity of the C282Y mutation is rarely seen. For a further analysis of this controversy, see Beutler et al, Lancet 359 p.211-218 2002.

About this Canterbury DHB document (6330):

Document Owner:

Mark Smith (see Who's Who)

Issue Date:

August 2017

Next Review:

August 2019

Keywords:

Note: Only the electronic version is controlled. Once printed, this is no longer a controlled document. Disclaimer

Topic Code: 6330