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Question

03 Feb 2004

Haemochromatosis
I am 26, female. After recent routine blood test, high Iron(Fe) levels and saturation were discovered. A retest confirmed these high levels. I also tested possitive for one of the 2 gene mutations found (I was told by my GP) in 80% sufferers.

My questions:
1. My Gp's says because I am not positive for both gene mutations, a definite diagnosis of haemochromatosis cannot be made. How/when will I know I am definitely a sufferer? (Isn't the high blood Fe already a confiamation?)

2. My GP is very relaxed about this - saying I ought to donate blood and then return for follow up yearly. Shouldn't the management plan be more structured? Such as donation, re-testing etc. Please advise-

3. The gene test are expensive for someone without medical aid. Should my brothers have this done, or can they wait until they have symptoms?

Many thanks
Answer 355 views
Expert
CyberDoc
CyberDoc

01 Jan 0001

Nicole, whether you test positive for the abnormal chromosome 6p doesn’t really make a difference to whether you will develop problems. There are more reasons for Tissue damage because of high iron levels than primary haemochromatosis. The important thing is to get your iron levels down to acceptable levels by donating 500ml blood every 1-2 weeks and then to maintain it by doing so every 3-4 months if necessary. The best would be to see a specialist physician about it as it doesn’t look like your GP is interested and once you have tissue damage, there isn’t much we can do about it.
Your brothers don’t have to go for the chromosome studies – they can just go for iron studies to determine whether they have it or not. Let me know if you have more questions (just post them as new questions to ensure I receive them). Good luck.
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