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Diagnosis and Treatment - What are the tests?
These consist of a simple blood test called
a serum iron profile ideally performed after an overnight fast.
Transferrin Saturation
This is an iron transport protein, which carries iron when taken from
the gut to the bone
marrow and the liver. Transferrin
saturation above 50% in women and above 55% for men fasting is very suggestive
of haemochromatosis.
Liver Biopsy
If the above blood tests suggest that the liver is likely to contain excess
iron or other blood tests imply any degree of liver inflammation then
a liver
biopsy is performed.
The test involves removing a small piece of liver tissue with a special
biopsy needle.
This is then examined under a microscope and the iron concentration is
measured chemically. The result enables doctors to assess the amount of
iron
overload and to see if any damage has occurred to the liver. It can
exclude any other causes of
abnormal test results.
Genetic Tests
There is now a simple genetic test result that can identify the mutation
in the gene responsible for causing the absorption of too much iron. This
involves a blood test or a simple finger prick test where a small drop
of blood is applied to a card. The great benefit of this test is that
it allows for whole families to be screened, and therefore early detection
of the disease before symptoms and tissue damage occur.
What is the Haemochromatosis?
What are the symptoms?
Diagnosis and Treatment
- What is the treatment?
How is haemochromatosis inherited?
Who should be tested?
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Questions & Answers Document
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