Hemochromatosis with normal iron levels?

[AneitaB]

Hello- Is anyone ever diagnosed with Hemochromatosis when their iron levels are normal? My son has had a laundry list of symptoms (including bronzing of the skin) for 13 years. It was recently found that he has an abnormal gene from me as well as his father, but his iron levels are normal. Is Hemochromatosis something we should investigate further? Thanks for your time!

[Lucky14]

My Uncle sadly passed away with this condition. It was never picked up he had inherited the faulty gene until it was too late, he was in his 60's. My Dad then at the age of 60 odd under went tests and he now has to have blood taken monthly and all is good. So I wouldn't know the answer to your question as such, but I would certainly want it checked out with a specialist, or at least get a second opinion. From what I have read, is that it takes years for kids to store up excess iron, in order for it to become a problem. I wish you luck 😊

[AneitaB in reply to Lucky14]

Thanks so much for your response!

[radd]

AneitaB,

If your son has the recognised faulty genes then he has haemochromotosis by definition, regardless of whether he requires venesection treatment at this point in time or not. However, his iron levels will need carefully monitoring in case levels start building, equally this could take many years & maybe never.

Also, some people require ongoing venesection to reduce elevated levels of iron regardless of a diagnosis of the common genetic mutants as there are many further still to be discovered.

[AneitaB]

Thanks so much- I appreciate the info!