Confused and looking for advise!
Posted , 4 users are following.
Hi all,
I am looking for some help and answers!6
My TIBC, UIBC, and iron serum levels have been high-and steadily rising-for at least the past 8 years. Everytime I have asked my doctor (who is a wonderful internist and usually right about things) about this she has said it's nothing to worry about and she blows me off. The lastest bloodwork I had done in March showed: TIBC level at 617 ug/dL, UIBC level at 439 ug/dL, and Iron Serum at 178 ug/dL. Obviously, this concerned me since it is the highest it has been. I have the following symptoms that are getting worse: absolute exhaustion, achy joints (especially fingers and knees), muscle aches, feeling like my muscles are "heavy" with something, feeling like I am "drugged", headaches, brain "fog" and mental confusion, blurry vision, dizzy, loss of concentration, loss of sex drive and this month I did not get my period. I do have EPV that reactivates and was told all the symptoms can be attributed to that and my hypoglycemia.
I finally convinced my doctor to look into the iron issue. Turns out I am a carrier of the H63D mutation for hemochromatosis. My ferritin level came back normal at 40.1 ng/mL.
When I received my lab work in the mail (my follow up appointment is in a few weeks) it says everything is normal and I do not have the disease and am a carrier only. Can one have just one copy of the H63D gene (the other two genes tested for were negative) and still develop hemochromatosis? I want to prepare myself for my upcoming visit and am confused as to whether to continue to push this high iron issue.
From what I have been reading, there is many myths surrounding hemochromatosis . Any advice would be great-resources or research to check out, should I visit a specialist, are there other symptoms to look for, etc?
Many, many thanks!
M
1 like, 4 replies
sheryl37154 MCC1
Posted
Medical researchers of haemochromatosis say one copy of H63D does not cause haemochromatosis. Homozygous H63D is a mild form of haemochromatosis in any case. You can still get high ferritin from other causes but it seems you do not have a high ferritin.
If you had high serum iron, your TIBC would be low. You don't say what your TS% is. It has to be >45% for haemochromatosis.
All your symptoms sound like haemochromatosis but they are also indicative of a number of other health issues. So you need to keep pushing your dr for why you are feeling that way, and perhaps look in another direction.
Get in touch with your country's haemochromatosis association for formal advice and information on HH.
Good luck with it.
MCC1 sheryl37154
Posted
shirley60201 MCC1
Posted
All of your systems are the same as my husband. He was told he has Hemochromatosis. His iron count was around 2500. The doctor told him it's needs to be below 50. So he has spent the last year getting it down by watching what he eats products low in iron only, like below 3%. No red meats, chicken and pork , watch the vegetables high in iron , and he was told not to take any multi vitamins they are high in iron. Stay away from alcohol, it's hard on your liver with this disease.
Hope that helps
allaroundanne MCC1
Posted
Your arthritis symptoms may be related to your carrier status. The hemochromatosis gene has a tagalong gene for an inflammatory form of arthritis and you only need one copy of that nasty gene to wreak havoc with your joints. There is a clinical trial going on in Rennes, France using a rheumatoid arthritis drug on hemochromatosis arthritis patients as it will block the build up of the inflammatory chemical causing the arthritis. However, it is like most of those drugs, it affects your immune system and makes you susceptible to everything including TB, influenza, cancer, you name it. I am homzygous C282Y but only have one copy of the arthritis gene from my mother. She is a carrier like you and has had two hip replacements and is looking at a knee replacement. My Dad is a carrier too and has no arthritis at all at 86. So, the answer is yes, your symptoms may be due to your carrier status but are not due to iron overload. The arthritis is just like rheumatoid arthritis in that it is an inflammatory process. Of course, you should see your doctor to rule out other reasons for your symptoms before you decide this is why you feel so badly. You wouldn't want to miss anything serious and just presume you have hemochromatosis arthritis.