Tuesday, April 26, 2016

Hereditary Hemochromatosis

I recently discovered I have Hereditary Hemochromatosis (HH).  It is essentially a gene mutation that means I'm susceptible to iron overload.  If affects over 1 million Americans.  The gene mutation is prevalent in Hispanics and in about 20% of people of Northern European decent.

So if you have the gene mutation your intestines will absorb twice as much iron from food as normal, and the excess iron will slowly build up in the body tissues.  Many cases go undiagnosed because doctors and patients are unaware of the condition and don't know what to look for.  Early symptoms are fatigue, sore joints and frequent infections, so they are easy to mistake for other conditions.

As the excess iron builds up in the organs, especially the liver, heart, spleen and pancreas it will destroy cells.  Most people won't notice any symptoms until after the age of 30.  Woman are less at risk for iron buildup because of the blood loss from their monthly menstruation.  Left untreated the organs will literally rust inside.  Average age of death is 57 mostly from liver cancer (30%).  It can also cause liver cirrhosis, heart failure, diabetes and arthritis.

So how do you figure out if you have this problem.  The two leading indicators are going to be Iron Ferritin (long term iron storage) and Transferrin Saturation %.  If Ferritin is over 200 or Saturation is over 45% you could be a carrier.  Iron Serum is not a good indicator and I can verify that as I had some normal Iron Serum levels in the past.  Chris Kresser has a great video on iron overload and what levels to look for.

I do find it a little surprising considering how easy this is to test for and treat, why is this not more of a standard screen for hispanics and people of european decent?  Seems like a no brainer to have your iron levels tested after the age of 30.  I'm extremely lucky as I have been doing a lot of my own testing lately to optimize my health and the first indicator was an iron serum level.  After that I got an iron panel done.

From here I went ahead and got my Ferritin level checked.

The testing company I used actually called me to let me know this was serious.  Its pretty apparent that I have iron overload.  I found this flow chart for diagnosing causes of Iron overload, this was from a guide for Australian GPs.

So from here I needed to see if I had the genetic mutation for HH.  You can have your doctor order the HFE Gene test or you can do what I did which was a order a genetic test from 23andMe and check yourself.  I choose this route as there was other information in the gene test I was interested in aside from figuring out if I had HH.  The test is $200 and you spit in a tube and it took 9 weeks to process.  You can read more about my genetic testing here.

Once you get the 23andMe results it doesn't just tell you if you have HH or not.  You have to use the raw data piece to figure it out.  This pdf will tell you how to do that.

Below is me entering the SNP number for C282Y on 23andMe.  It shows I have the AA genotype which means I have the double mutation.  GG would be normal.

Or you can take the 23andMe raw data file and feed it into a tool like Promethease ($5).

During this time I sent the results to my family doctor and he scheduled me in for a visit and also had me take another Ferritin test.

Ferritin262.5 ng/mL21.8 - 274.7 ng/mL

My doctor was not overly concerned because my results fall within the reference range on their test.  The problem with these reference ranges are they are 2 standard deviations from the curve.  In other words they include 95% of people's test results.  These ranges are definitely not optimal and always keep that in mind when looking at your blood test results.  Fortunately I had done my research already and knew the optimal range was more like 50-150.  You have to be an advocate for your own health and not assume the doctor knows everything.  I also had already ordered the gene test.  I did ask for another Ferritin and iron panel test to just see where things were while I waited for the gene test.  I took it about 3 weeks later.

ComponentYour ValueStandard Range
Iron162 MCG/DL65 - 175 MCG/DL
Iron Bind Cap Unsat65 MCG/DL110 - 370 MCG/DL
Iron Bind Cap Total227 MCG/DL228 - 428 MCG/DL
% Saturation71 %11 - 70 %

ComponentYour ValueStandard Range
Ferritin239.8 ng/mL21.8 - 274.7 ng/mL

The doctor was again ok with the results.  However by this time the gene test had come back and I had verified I had the double gene mutation for HH.  So I just faxed my doctor the page that showed that and I was referred to a Hematologist.

To remove the iron the best and simplest method is to give blood.  I had looked into just donating blood to get the ball rolling.  But I found out I can't give blood here because I lived in the UK for more than 5 years after 1980 (Mad Cows Disease).  While I waited I did take Lacktoferrin (comes from breast milk binds to iron), stopped eating liver, no more supplemental vitamin C (increases iron absorption) and in general tried not to eat too much red meat.

I met with the Hematologist and the first thing she asked was if I was a scientist.  Huh?  I thought that was funny but I explained I was just really into in my health.  I guess they were a little confused when I faxed in the SNP ids from one of my gene reports.  She had no idea I could get this information myself.  She confirmed that I had HH.  Based on my iron levels she recommended I give a pint of blood every 2 weeks for 6 weeks and then have my iron levels retested.  I was also scheduled for an ultrasound to check for any potential damage to the liver.  There isn't any set frequency of blood draws it just depends on the person and their levels.  First they have to get the Iron level down to a reasonable level.  I was glad to hear my Hematologist was targeting a Ferritin level of 50.  This would be the low end of the normal scale so it leaves room for build up until you get the next blood draw.  However you don't want to go too low because at the other end of the scale is Anemia which is caused by too little iron.  Once you get the levels down you then have to go on some sort of maintenance schedule and basically give blood for the rest of your life.  Typically it would be something like once every 2 months but for me we haven't determined that schedule yet.

My kids will also eventually have to be tested.  I was told to test them at 18.  They are guaranteed at least one copy of the mutated gene from me since I have 2 copies.  Its unlikely they would get another copy from my wife but still possible.

9/27/2017: Since the writing of this post I went ahead and had a 23 and me test done for my wife as I was just too curious to know if my kids could potentially have HH.  She is GG for rs1800562 so combined with my AA they are all going to be heterozygous for C282Y.  This means they will be at a slight risk for iron overload but are very unlikely to develop iron overload like I have.  I'll probably recommend they still give blood once a year once they are 18 as it won't hurt and its a good thing to do.


  1. Fascinating story and kudos to you for being an advocate for your own health. While I have the utmost respect for physicians, with the complexities of medicine today it is nearly impossible to keep up with everything. Every patient should learn from this story...if you had relied completely on medical professionals to recognize and diagnose this condition it would have been 5-10 years from now (when you had symptoms) and your story (and life) would've had a very different ending...be your own health advocate. It's your life!

  2. Hi Simon. Great blog, which I recently discovered after a comment you left on Mark's Daily Apple regarding elevated levels of SHBG.

    Your comment was a actually a real eye-opener because I have also found out I have elevated ferritin levels (230 ng/ml). I was thinking the two issues were unrelated but it turns out elevated iron also correlates to high SHBG levels. I was thinking the two things were completely unrelated.

    So, I was just wondering whether your SHBG levels returned to normal range after your phlebotomy and whether you used any other strategies to get SHBG back within range? Many thanks!


    1. Yes my SHBG is almost normal now it has steadily come down since I've been doing phlebotomies now for about 17 months. But it did take most of that time to come down, my SHBG was as high as 130 or so. I'm still not in the normal range but my SHBG is now down to 59. Also my free testosterone has risen from completely tanked to bottom end of the range. I'm not a doctor but my theory is the iron overload reduces liver function which effects SHBG levels and therefore free T. My ferritin is now 55 but my iron staturation is still quite high. How old are you? If I was you I would test for the HFE Gene to see if you have hereiditary hemochromatosis. You could also ask for an iron panel and get your iron staturation % which could confirm if you have iron overload. A ferritin of 230 by itself is high, although most doctors wouldn't bat an eye lid at that level. It might even fall within the normal range on a lab test. Ideally you want it under 150. Even without doing the HFE gene test or using 23 and me, I would go give blood if you can do that. A single donation will lower ferritin by about 30. Good luck, if you have any questions just reply here I'm happy to help.

    2. Thanks for the detailed reply Simon, I appreciate it.

      I'm in my late 30's (north European descent) and will certainly be getting the genetic test done, likely through 23andMe, so thanks also for the detailed post on how to maximise your results from their website, following the FDA's questionable intervention. I'll also look to get an iron panel done and will be discussing both results with my GP this week. Regardless of the outcome of the test, I will still be looking to deal with the Ferritin issue. As Chris Kresser states in his excellent presentation 'Iron Behaving Badly', high iron levels is a problem in and of itself regardless of whether you are a carrier.


      230 does also fall within the "normal" range here, though according to Gerry Koenig and Dr. Mercola that is FAR too high. 40-80 is reportedly the sweet spot for men and, like you, I'll hopefully be aiming for 50 if my GP agrees to prescribe treatment.

      The SHBG levels are another thing. I've looked at some other strategies for reducing levels but it seems those will be redundant without tackling the ferritin issue and improving liver function. There are studies that clearly link high ferritin and high SHBG so I think your theory on this is probably accurate.

    3. Supplements that target the phase II pathway in the liver might help some with the SHBG. I was able to reduce mine some with these supplements but ultimately I'd just save your money and deal with the iron issue first and go from there. If you get an Iron panel and your iron saturation % > 50 then with your ferritin number I would consider that iron overload. I would also quit drinking alcohol for now, you want to take any load off the liver. Alcohol also increases iron absorption. As does supplemental vitamin C. Good luck, let me know what you find out, I'm curious to see if you have hereditary hemochromatosis, would be great if you found it early like myself.