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Forum Name: Hematology Topics

Question: possible Haemochromatosis- some questions


 pollyby - Fri Apr 14, 2006 12:18 pm

Hi, I am a 36 year old female who has had muscle and joint aches and pains since my teens (though mostly at a tolerable level). These pains have increased notably since the birth of my second child 18 months ago. My GP recently did a battery of tests to see what was going on. Thankfully my RA was negative but my haemoglobin was on the high side at 15.6 (up from 13 just 9 months ago) and my transferrin saturation was 47%. I didn't take in what the ferritin level was but I think it too was at the high end of normal. My GP was a bit concerned as he thought these levels were high for a female my age. The decision was to re-check in 3 months time and if the figures are climbing to refer me for further investigation.

My father has suffered from very similar aches and pains for years and was diagnosed with fibromyalgia 6 years ago. I found out yesterday he was never tested for HH. He goes next week to be tested.

MY GP seemed to be inclined towards a diagnosis of HH for me. My questions are.... how high do the levels have to be before treatment begins? My pain is increasing and I am exhausted lately.... how much worse does it have to get before phlebotomy starts (that's presuming correct diagnosis of HH).

As an aside, I rarely eat red meat and I would have thought that my diet was actually lacking on the iron front.

Thanks

P
 Theresa Jones, RN - Mon May 15, 2006 6:38 am

User avatar Hi pollyby,
Hemochromatosis is, generally speaking, has a hereditary tendency. When left untreated it may cause the onset of an array of disorders. You wouldn't happen to be taking any multivitamin supplements, birth control medications (some of which contain iron in the week of inactive pills), or vitamin C supplements are you? Elevations in transferrin saturation are typically followed up with serum ferritin levels to identify if another underlying condition is present. Has this been completed?
Sincerely,
Theresa Jones, RN
 pollyby - Mon May 15, 2006 5:23 pm

Hi Theresa,

Thank you for replying. I don't take any multi-vitamins or birth control pills. The only iron rich foods I do take are cereals which (I now notice) are fortified. However I wouldn't have thought that would have led to high iron levels given that I don't eat much red week.. maybe once a fortnight I'll have a lasagne or something.

The plot has since thickened in that my father has had a letter from his GP stating that his gene test is negative and ferritin is normal. I presume that means he isn't even a carrier which means I can't have HH.
unless I have some "wild gene type " HH I probably don't have HH at all. So why the 47% Transferrin saturation and HB 15.6? Can this happen just as a "blip"? Can that level combined with my joint pains indicate anything else... could the TS levels be caused by whatever is causing the joint pain?

MY Rheumatoid factor, ESR, CRP, LFTS and TFT were all normal (and immuno- somethingorother).

I have searched the internet for clues and I'm finding no other likely cause. I am a bit overweight (about 20lbs)... could fatty liver be a possibility? I rarely drink alcohol though I did drink socially (and frequently) in my younger days... hardly at all over the past 8 years. IF it was fatty liver wouldn't the LFTs have been abnormal. And would that cause the joint pain?

So many questions... I do apologise! I'm just thinking out loud really!

Thank you for your time!

P

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