Hereditary Hemachromatosis

New Topic Post Reply Printable Version
[ << Previous Thread | Next Thread >> ]

Veteran Member

Date Joined Nov 2003
Total Posts : 7314
   Posted 10/13/2007 11:47 AM (GMT -6)   
So, I've got a new Dx. and this could well turn out to be the cause of my gut trouble and my arthritis, as well as a few other problems I've had along the way. This was all thanks to a "Mystrey Diagnosis" show on the Discovery Health Channel.
My younger sister was beginning to exhibit some of the symptoms that I've had for years and she started to look into what was causing them. One night, she caught the show on Hemachromatosis (HHC) and thought that this might explain her problems. She went out on a limb and got genetic testing done which showed that she had inherited 2 copies of a mutated gene. This mutation allows for excess iron to be absorbed through the intestine, above and beyond what the body needs. Once you have all this iron in your blood, your body has to do something with it. Unfortunately, you don't excrete metals through the liver or kidneys like you do other vitamins and minerals. This means that your body has to "store" the iron somewhere. Where the iron gets stored depends on which genetic mutation you have. In the worst case, it all gets loaded into your liver and this can result in cirrohsis or even liver cancer, but the iron can get stored almost anywhere. The brain, heart, lungs, liver, pancreas, thyroid and joints are all at risk with the mutation that my sister has.
This week, I got back my test results. I too have 2 copies of the mutated gene and so does my mother. My iron levels are very high and I'm now waiting to see a Hematologist. The good news is that the treatment is just to donate blood. That's all I have to do to get this under control, but I have to wait 3.5 weeks to see the Hem before I can do that. If I donate now, I might get better and then I'd be left sitting there having a Doc who can't see how sick I am. UUGGHH
From what I've read, it is possible for there to be damage to the gut from Hemachromatosis (HHC) that is very similar to the damage found in mild CD. Since my body is getting too much iron, the villi have become shortened, so that they absorb less. I'm still trying to determine if the HHC can cause the type of bowel inflammation that I had. 30cms of TI is a lot of bowel to be inflammed, but the GIs are all saying that they don't believe I have CD now.
It's also possible the HHC is the cause of my Spondylitis. Iron depositis in my joints could cause the type of inflammatory arthritis that I have. To stretch it, you might say that with the iron in the tissue, my immune system isn't recognizing that it's attacking my own body. It believes that iron is a foreign substance. Following this train of thought would explain my high thyroid antibodies too. It could even explain my migraines. UUUGGHH what a mess.
Anyway, I am just learning about all this and there will be more to come. I wanted to put this out here though because HHC is actually much more coomon than one would believe. However, it's not something that Docs look for unless or until someone becaomes very sick or they get screened after a family member has been Dx with it.
Screenings of the general population show that 1 in 250 Americans actually have the genetic mutations to cause HHC. However, in the Irish-American population, the rate of occurence is 1 in 80. Anyone want to take a guess about my ancestry? LOL
Screening for HHC does not need to included genetic studies. There are 4 simple blood tests which can evaluate someone's iron levels and determine if they are at risk for disease. These are total iron, TIBC, Transferrin and Transferrin saturation. These can be run as part of any regular blood test, but it's not common for Docs to actually order them.
The thing that really eats me up is that my levels came back very high 11 years ago. The GI I was seeing then actually talked to me about the possibilty of chelation to remove the iron. A repeat test was done several weeks later and the levels dropped, so he dropped the issue and nobody ever followed up on it.
If iron storage is my real problem, it might be possible that through blood donation, I could rid myself of many of my symptoms. This idea thrills me to no end, however, I also relaize that getting rid of the iron won't fix the damage that has already been done.
So, I'd suggest that anyone who is of Irish, or Northern European descent talk to their Docs about checking their iron levels. This can sneak up on you slowly enough to cause lots of problems before you get sick enough for them to find it.
Keah a.k.a. Wormy
 God helps those who help themselves.
Please help us support this invaluable forum.
Crohn's Forum Moderator

Regular Member

Date Joined Aug 2005
Total Posts : 244
   Posted 10/13/2007 6:13 PM (GMT -6)   
keep on pushing them to look harder. thanks for sharing the info.
"If thou wilt be observant and vigilant, thou wilt see at every moment the response to thy action. Be observant if thou wouldst have a pure heart, for something is born to thee in consequence of every action." -Rumi-
CD for 15 years diagnosed at age 11(i get the crohns cycle)

Veteran Member

Date Joined Feb 2007
Total Posts : 1010
   Posted 10/13/2007 6:35 PM (GMT -6)   
Thanks for the info Keah. Hope this provides the answers you've been looking for.

30+ years living with Crohn's.

Veteran Member

Date Joined May 2003
Total Posts : 9448
   Posted 10/13/2007 6:50 PM (GMT -6)   
Gads, some 10 years or so ago there was a fella who posted a lot in the forerunner to WebMD, I can't remember the name of the site at that time. Anyway, he was constantly referring to hemochromatosis and what it could do to the body. At that time he claimed there was one simple, cheap blood test that could detect hemochromatosis and he was lobbying for that one test to be included in ALL blood draws done.

And now, here, years later, my very best crohnie friend may have hemochromatosis!!! (((hugs))), Keah. It would be great to have an ACCURATE diagnosis AND to donate some of that blood thereby helping yourself AND OTHERS!!!! How often can a relatively simple, relatively painless, treatment for our problem benefit others???!!!!
Some people are like Slinkies... Not really good for anything, but they still bring a smile to your face when you push them down a flight of stairs.

Veteran Member

Date Joined Nov 2003
Total Posts : 7314
   Posted 10/13/2007 10:50 PM (GMT -6)   
Thanks for the good wishes.

Actually CToo, there is no maybe about the Dx. I definitely have HHC and am iron loading. I am homozygous for the mutation on H63D, which means that i got one copy of the bad gene from my mother and one from my father. Since my total iron is 190 and my saturation is 79%, there is defintiely active disease. The saturation for a woman should be 30% or lower, so I'm really high.

The really hard part is going to be getting through the next 3.5 weeks to my Hematology appt. I already know that by donating a pint of blood, I can unload some of the iron and will likely see a reduction in symptoms. However, a very wise Ides has convinced me not to do that. She made me promise too! She's right though. The Hematologist needs to really see how symptomatic I am. If I do the donation, I'll start to get better and he won't see what's really happening to me. So, I have to wait. Ides is right, as usual. It's just so hard to do nothing and continue feeling so rotten. It's like knowing that a tylenol will help you feel better and you're staring at the bottle but can't open it. SIGH

Forum Moderator

Date Joined Nov 2003
Total Posts : 7055
   Posted 10/13/2007 11:37 PM (GMT -6)   
Ah shucks, Keah! Thanks for the recognition! I know how hard the next three weeks will be for you since you know how to potenially relieve some of your suffering. But it is so important for the new doc to see just how bad things are for you. We will all be here to support you through this difficult time...hang in there gal friend!
Moderator Crohn's Disease Forum
CD, Ankylosing Spondylitis, small fiber peripheral neuropathy, avascular necrosis, diffuse connective tissue disease, Sjogren's Syndrome ?

Regular Member

Date Joined Jul 2007
Total Posts : 161
   Posted 10/14/2007 12:02 AM (GMT -6)   
Keah, that is an amazing finding for you. Thank you for sharing what you learned. Wikipedia (not the best source, I know) says: "It is estimated that roughly one in every 300-400 people is affected by the disease, primarily of Northern European and especially people of Irish, Scottish, Welsh and English descent.".. and "It is presumed, through genetic studies, that the original haemochromatosis mutation arose in a single person, possibly of Celtic ethnicity, who lived 60-70 generations ago. Around that time, when nutrition was less balanced than today, the presence of a mutant allele may have provided a natural selection reproductive advantage in maintaining sufficient iron levels in the blood. With our current balanced diets, this 'extra help' is unnecessary and indeed harmful."

I am Irish/Scottish/Welsh/English and a small part German. So I needed to learn about this.

Post Edited By Moderator (Keah) : 10/13/2007 11:31:43 PM (GMT-6)

New Topic Post Reply Printable Version
Forum Information
Currently it is Monday, October 24, 2016 2:04 AM (GMT -6)
There are a total of 2,710,909 posts in 298,939 threads.
View Active Threads

Who's Online
This forum has 153501 registered members. Please welcome our newest member, fjcg0808.
200 Guest(s), 3 Registered Member(s) are currently online.  Details
brightside10011, Snokrystal, flamingo

Follow on Facebook  Follow on Twitter  Follow on Pinterest

©1996-2016 LLC  All rights reserved.

Advertise | Privacy Policy & Disclaimer