positive test

[Jojo5860]

hi everyone

I have just tested positive for genetic haemochromatosis. I have 2 genes. I know nothing about this condition.my blood results was not that high. But had many symptoms. My brother tested positive so GP did genetic test. I don’t know what is ahead of me but I am glad I have a diagnosis

[Mall]

Hi,

You don’t say what your ferritin levels are. Not everyone with two genes goes on to develop haemochromotosis and their iron levels stay within the normal range without the need for treatment.

I was diagnosed a couple of years back. It is better to know that you have haemochromotosis than not know, that’s good news.

Now your iron levels can be monitored and have treatment if required. Treatment involves having venesections to reduce the iron in your body to normal levels; this is the same as donating blood. The equivalent of a pint of blood is taken at intervals until your levels are within normal range, known as maintenance. This can take some months to achieve. I had fairly low levels of iron, my ferritin levels were around 600.

I am now in maintenance, have blood tests to check my iron levels every 3to 4 months and need to have a venesection every 4 to 5 months. It took about 10 venesections at fortnightly intervals to achieve maintenance.

If you have had high levels of iron for some time You will also have a liver scan to check your liver is ok as this organ is often the first damaged by excess iron but is not usually affected unless levels are very high over 1000.

I hope I have given you some reassurance. I can only really talk about my own experience after diagnosis. I suggest you look at Haemochromotosis UK website. This organisation can offer telephone advice, it has lots of information leaflets, webinars and if you are in the Uk I would recommend you join.

There is also a Facebook page, “haemochromotosis family” I recommend, it is a private group and is a great source of support. Sadly this page doesn’t have many active contributors.

[Jojo5860 in reply to Mall]

thank you for replying I have an appointment with my GP next week so should know the way forward. My ferritin level was 399 My tsat was 42%. My brother tested positive too.

[JigFettler]

Indeed.

I guess you'll have venesection to an ferritin level of about 50.

An assessment will be made of your risk factors, liver ultrasound may be. With a level of 399 one would expect any harm to have occurred.

How come you got tested in the first place?

Jig

[LaceyLady in reply to JigFettler]

If s/he is a Compound variant such as myself, they do not automatically venesect. My levels fluctuate on the borders and above but here in Berks I get no treatment and shortly I think they will just discharge me!

I’ve got Peripheral Atrial fibrillation and 2 T Diabetes which can be symptoms of GH 🤷🏼‍♀️

[LaceyLady]

I have 2 genes too, Compound Variant. C & D genes

[LaceyLady]

haemochromatosis.org.uk look at this site, I became a member, worth doing, you get a big pack of leaflets and can ask questions of them