I may have hereditary Haemochromatosis. Here are my test results
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I suspect I may have Haemochromatisis. My iron blood tests are very abnormal and strange. I’m not sure if I have a rare form of haemochromatosis. My doctor cannot discipher the results. He has never seen results such as mine. He just ordered a CT scan of my liver which turned out Normal.
I’m 39, very healthy don’t drink or smoke, fit, 5’9” and 145 lbs. But I’ve had constant (on/off) pain in my liver (abdomin) for over 5 years, tiredness, pain in joins, stiffness in joints, difficulty concentrating, among many others. I notice when I eat a consistent vegetarian diet with no iron-rich plant foods I feel amazingly better.
Here are my test results:
TIBC: 185 ug/dL (low); Normal 250-450
UIBC: 70 ug/dL (very low); Normal 150-375
Fe serum: 115 ug/dL (Normal); Normal 40-155
Fe saturation %: 62 (high); Normal 15-55
Serum Ferritin: 76 ng/mL (Normal); Normal 30-400
I’m just wondering if anyone has ever seen such results and could help me! I’ve been to sooo many doctors; I’m tired of the run-around with no answers for the past 5 years. It’s been a nightmare.
0 likes, 3 replies
outremer84 Surf79
Posted
Have you considered, or are you in a position to request the genetic test for haemochromotosis? That's the only definitive way to know, even if only to put your mind at ease.
Even assuming you have it, with such low ferritin it would be difficult to use phlebotomy as it'd make you anaemic.
I took me five years after symptoms showed to find my own Haemo. Even if it's not this, don't lose heart; keep pestering and you'll get to the bottom of it. I was told I was depressed and imagining it so many times!
Surf79 outremer84
Posted
I received the genetic HH results just today. It concludes that I only have one copy of the H63D HFE gene mutation and no C282Y mutation. But the notes also also state I may have other mutations within the HFE gene resulting in Hemochromatosis. So it appears I still need more genetic testing. Does anyone know of any other HFE mutations that could result in HH?
outremer84 Surf79
Posted
I don't claim to be an expert when it comes to iron disorders and genetic profiling but it seems to be a big grey area.
For example, a homozygote with C282Y will only demonstrate iron accumulation in around 28% of patients (don't have the literature to hand right now).
A possible explanation is that while strongly assossiated, the C282Y is complementary, but is not the definitive mutation that causes the condition.
The symptoms you describe, has everything else been ruled out? Thyroid panel, B12, diabetes, etc?
If you are concerned about iron accumulation and you're in a location where you can, why not just go and donate a unit of blood somewhere? My haemoglobin was that high before my first venisection that I felt absolutely rotten. It might make you feel better.
It makes me feel incredibly guilty that if I'd donated blood regularly throughout my adult life (now 34), I would never have had these problems.
Do the doctors have any other theories as to your symptoms? US or UK based? (or somewhere else completely!