RECENTLY DIAGNOSED WITH GENE

You may have to start to put some questions together to ask your gastro specialist.

Which gene do you have?  Did they say you have haemochromatosis? What are your levels for ferritin?  What is your saturation level?

I  would believe you have this condition if they have referred you to gastro specialist,  but he will better be able to answer that.

Get an appointment as soon as possible and be proactive.

What does overly high mean?  Most of us with the condition want to get at 50 or below and have been told what is high for us is not the same as high for others that don't have the condition. I was diagnosed at almost 1000 and have been treated with weekly phlebotomies until I reached 41 and have now been able to be given a break for almost threee months and will see where I'm at within the next two weeks. For those of us with harmochromatosis, it's the ferratin level that is the most important.  Does this conditon run in your family as it is genetic condition.Good luck!

Hi Carolanne. I'm Mike. Are you just carrying a gene, or have they told you that you Def have hereditary Haemochromatosis. I have the mutation of the 282y gene homozygous...that's the most common. Does that ring a bell..the 282y gene? I'm just wondering how much he told you.

The tiredness and joint pain are certainly symptoms of the condition. The gastro specialist will want to check your liver...how is the liver..any abdominal pains, or how are your liver function tests? My ferritin level last year was 2000! My iron level was normal...the ferritin is what stores iron in your body. It should be between 20 and about 200. Storage iron that high is dangerous...iron has nowhere to go, so stores in your organs, esp liver, your joints, skin(giving you a bronze tan)

Anyway, the great news is they've diagnosed it! You say ferritin level is not to high..the gastro team will check your liver, but you mentioned no symptoms there, so hopefully no real problem there.

If you do Def have Haemochromatosis...the treatment is simple...drain blood from you. The only way to draw out all that excess iron. I've had a weekly venesection for a year now. My level last week was 78! I'm delighted, almost there. The medical team have been fab, and I actually enjoy going every week. The procedure is exactly the same as donating blood...it's been totally fine. You might be anxious initially...but there are ways of dealing with it, which I'd be happy to share. If you tell me a little more or ask any questions, I'd be happy to help, as would the rest of the lovely community in this forum . Welcome to the Iron family....here to help and support you.....chat soon. Mike.

Hi Carolanne,

It sounds highly likely that you have haemochromatosis- as you are loading iron, have some of the usual symptoms & have one or more of the mutated genes.

The best advice I was given on this site was to ask for print outs whenever I had tests. You need to take control of your condition & be aware of treatments available. I agree with everything suggested by Mrs Z & Mike - great advice. This forum has helped me so much & I'm sure you will find it easier to understand this disorder by reading the posts on here.

My family had never heard of it when my brother was diagnosed over 10 years ago. I think there's always a reluctance to accept you may be affected by a "disorder". I know I initially dismissed the idea when my brother was diagnosed. Then my family had tests which came back as negative - we didn't query what the tests were, just were relieved to be okay. Ten years on, I started feeling ill as periods started to diminish. Found out more about the condition & that I'd never been given the correct tests - only a test for haemoglobin. I finally had the gene test & ferritin tests but had to push for these.

I feel incredibly lucky to know in plenty of time that I have this disorder so that it can be managed by myself & healthcare professionals.

Good luck - let us know how you get on :-)