Download Haemochromatosis PCR Testing

CS7.020/Edition: 4
Haemochromatosis PCR Testing
Haemochromatosis is an autosomal recessive disorder of iron
metabolism.
Most cases of haemochromatosis are caused by the C282Y mutation.
Approximately 1 in 200 persons of Northern European descent carry 2
copies of this gene and are at risk of developing the complications
associated with this condition.
Approximately 1 in 8 persons of Northern European descent carry a
single copy of the gene. They are unlikely to have any manifestations of
haemochromatosis, but may pass the gene copy to their children.
Only a proportion of persons who are homozygous (carry 2 copies of the
gene) for C282Y develop clinical disease. For those who do, if identified
early enough, there is excellent treatment, simply by regular removal of
blood which is the main site of iron storage in the body.
There are 2 other mutations that have been identified in the
haemochromatosis gene, know as the H63D and S65C mutations
respectively. They appear to be less important than the C282Y mutation
in causing clinical haemochromatosis, but some persons who carry 2
copies of the H63D mutation have been reported to develop clinical signs
of haemochromatosis.
ACT Pathology performs genetic testing for haemochromatosis. The
C282Y and H63D mutations are tested for on a weekly basis, using a
technique called PCR. The S65C mutation has no known association
with hereditary haemochromatosis and is not reported.
Required specimen is 4-10mL of blood collected into an EDTA tube.
For further information please contact:
Dr Peter Hickman
Director of Chemical Pathology
6244 2840
Senior Scientist
Molecular Pathology
62443485
Authorised by Director of Chemical Pathology
Last Updated: 28/11/2011