Acute Services Division
Diagnostics Directorate
Clinical Genetics
West of Scotland Regional Genetics service
Laboratory Medicine Building
Southern General Hospital
1345 Govan Road
Glasgow
G51 4TE
Tel: 0141 354 9200
A letter to give to relatives to show to their GP (Genetic Haemochromatosis)
You will have been given this letter because your relative has been found to have Genetic
Haemochromatosis. It is recommended that their first-degree relatives (brothers, sisters, parents &
children) should ask their GP to organise a small blood test.
To request the test you can make an appointment to see your GP, ideally first thing in the morning
before having breakfast. It would be helpful to take this letter with you to show to the GP. Testing is
available from 16-18 years of age.
Key points for GPs
It is recommended that the following tests are undertaken whether or not there are symptoms:

the genetic test for haemochromatosis (5mls in EDTA). Please write on the genetic
test request form that there is a family history /or partner who is a carrier or affected.
so that both of the common HFE gene alterations are tested and you receive accurate
results. The genetic test will indicate whether or not ongoing iron monitoring is required.
Genetic testing for HFE is available from 16-18 years of age.( young children and babies do
not need to be tested)

an iron studies (transferrin saturation and serum ferritin)
Some background about Haemochromatosis
Haemochromatosis means a build up of iron the body, and it is sometimes called iron overload. It
can occur for a variety of reasons.
Some people are born with an increased chance that iron might build up in their body’s tissues. This
is known as having Genetic Haemochromatosis. The iron overload occurs in adulthood, gradually
and over many years. Most people do not develop symptoms until they are in middle age, although
some people might develop symptoms in early adulthood. If the iron buildup is not detected and
treated, it can damage the body’s organs.
The importance of sharing the news with relatives
Haemochromatosis can be hard to identify because early symptoms are similar to those of many
other common diseases. However sharing the news with family members means that they can be
tested for Genetic Haemochromatosis and this can be of great help relatives and their doctors.
The good news is that if a person is found to have Genetic Haemochromatosis, monitoring and
preventative treatment means that they can keep healthy and have a normal life expectancy,
avoiding developing conditions including fatigue, arthritis, liver and heart problems, abdominal pain
and diabetes.
Genetic Haemochromatosis occurs when a person inherits two altered copies of a gene called the
HFE gene — one from each parent. If a person is found to have two altered gene copies they can
have regular iron blood tests at their GP or hospital. The following table identifies the typical
chances of having two altered gene copies if a relative has Genetic Haemochromatosis.
Relationship to relative with
Genetic Haemochromatosis
Sibling (brother or sister)
Child
Parent
Chance of having inherited
Genetic Haemochromatosis
1 in 4
About 1 in 20
About 1 in 20
Not everyone who has two altered gene copies would actually go on to develop iron overload, but it
is more likely if there are relatives who have developed iron overload.
Children
The type of Genetic Haemochromatosis seen in your relative is an adult onset condition and so the
test is not generally available during childhood. The test would be available from around 16 to 18
years of age.
If a parent has Genetic Haemochromatosis, their partner could request the genetic test for
haemochromatosis. It would be vital that the GP notes on the genetic lab request form that
there is a family history/ or a partner who is a carrier of affected in order that the correct test is
done and to get an accurate result. The partner’s genetic test would give the couple information
about whether their children should have testing when they are older.


If the partner were a carrier, each of their children would have a 1 in 2 chance of having
inherited two copies of the altered gene. Their children could then have the genetic test
when they were about 16 -18 to identify whether or not they would need iron monitoring.
If the partner were not a carrier, all of their children would be carriers but would be very
unlikely to have inherited two copies of the altered gene. They would not need iron
monitoring in adulthood.
More information
If you would like to more information about Genetic Haemochromatosis and testing, please do not
hesitate to contact the Community Genetic Counsellors on Tel: 0141 354 9200.
Another source is the Haemochromatosis Society. This is a UK patient information and support
organisation and can be accessed on: http://www.haemochromatosis.org.uk Tel: 0208 449 1363