Hemochromatosis
Those of you who have read my previous few posts know I’ve been through a bit of a health roller coaster as I was bombarded with numerous unwanted symptoms through hormone issues. Turns out, however, the hormones (or perhaps I should say my ignorant decision to try to control them) weren’t the only things causing me pangs. It turns out iron is a bit of a deadly foe for me and at least a few of my siblings, and we’ll have to keep an extra close watch on it. It seems the Alzheimer’s gene, ApoE4, was not the only gem I inherited from my parents.
My 23andMe genetic test results showed I was at risk for hemochromatosis. This was all Greek to me and so began a new branch of research. The HFE gene (one is inherited from each parent) regulates how much iron is absorbed from the diet through the digestive tract. Two different mutations of the HFE gene are possible, C282Y and H63D. I inherited both of these. According to hemochromatosis.org, those with two copies of C282Y or one of each mutation are at highest risk, people with two copies of the H63D have moderate risk and those with only one mutation have low risk. People with one mutation are considered carriers — likely never to develop hemochromatosis but can pass it on to their children. The C282Y and H63D mutations cause the HFE gene not to work properly, leading to increased iron absorption into the body. The result? Iron overload — hemochromatosis. The body is unable to rid itself of excess iron unless chelating therapies are administered, so the iron accumulates in the body’s tissues and oxidizes, becoming toxic.
Nutritionist Ralph Catalase in his book, “Living Well With Hemochromatosis” writes that iron overload is dangerous because it “accelerates the oxidation or ‘rusting’ of body tissues.” This overload is particularly harmful to the joints and internal organs, especially the liver and pancreas, leading, if left untreated, to diabetes, cirrhosis of the liver and cancer, among other ailments. And guess what? The brain is certainly not spared. Iron overload’s effect on the brain is actually twofold. Oxidative stress and the resulting glycation and chronic inflammation are key factors in developing Alzheimer’s disease, Dr. Dale Bredesen writes in “The End of Alzheimer’s.” The oxidation from excess iron damages the brain. Additionally, iron falls into Bredesen’s type 3 Alzheimer’s, in which the disease is brought on by the building-up of heavy metals and other toxins in the brain. Hemochromatosis.org says iron buildup has been found in the brains of those with neurodegenerative diseases, including Alzheimer’s, Parkinson’s and epilepsy.
It amazes me, therefore, that Bredesen, so thorough in his ReCODE protocol to prevent Alzheimer’s, makes no mention of hemochromatosis. As far as I can find or remember, he only briefly touches on iron deficiency, saying to check levels and if low, supplement accordingly. To me, after the research I’ve done, the link between — and the danger of — having the ApoE4 Alzheimer’s gene and the hemochromatosis mutations is too strong to be ignored. I’m convinced Mom had untreated hemochromatosis, which likely didn’t fully cause but at least contributed to her Alzheimer’s. Iron overload can cause joint pain/arthritis, kidney and urinary tract infections and gallbladder disease, all of which Mom suffered.
Last summer, before I received my 23andMe test results, before I’d ever heard of the word hemochromatosis, I decided to try donating plasma at BioLife Plasma Services. Doing so would allow me to help others while making some extra money — sounded great! And it is great — great money for a surprisingly easy process. After a few weeks, however, I was turned away for low iron. I was menstruating at the time and thought that must be why. I decided to purchase some iron supplements to take during that time of the month so I could continue donating. Another month or so passed and donations continued with ease. But then more and more low-iron readings inexplicably started creeping up, so I began taking iron supplements everyday, trying to keep my levels up. I had received my 23andMe results by this time and thought it odd that I had inherited two copies of the mutated gene but was also getting these low-iron readings. I thought perhaps this was because I was donating too much and decided to take a break from it.
I continued taking my daily iron supplement through the fall and into the new year while not giving my iron levels much thought. I figured the BioLife tests don’t lie; I must need the supplement, despite the mutations. Last winter, needing some extra cash, I decided to go back. I took a few extra supplements and made sure to eat iron-rich foods a few hours before that first donation, just as BioLife recommends. I was turned away again for low iron. How could this be?! So I started taking a few extra supplements the few days before and the day of each donation. This worked for the most part. I was able to donate on a fairly regular basis through the spring but was still randomly being turned away.
Then this summer the low-iron readings upticked once more. I was getting turned away more than I wasn’t, despite my supplementing efforts and two gene mutations. I was getting fed up. I didn’t need the money that badly.
My annual visit to my family doctor arrived in July, and we discussed my usual couple of issues: a sluggish thyroid (more on this next time) and the heart flutters and shortness of breath I get on occasion. We went through my vitals and she ordered my annual lipid and thyroid panel, and then as an afterthought, she asked casually if I’ve ever had any anemia issues.
I had intended to tell her about my iron troubles with BioLife and my two mutations, but it had slipped my mind until that moment. I shared my story, and she took a step back and looked at me with a bit of surprise and intrigue. She said she would also order a full hemoglobin/iron panel and noted my symptoms could be attributed to iron issues. Really? Hemochromatosis 101 was about to commence. I quickly found hemochromatosis.org and learned three of the many possible symptoms include heart flutters/irregular heartbeat, shortness of breath and hypothyroidism. Go figure.
I received my test results, and my blood iron level was good at 129 (normal range is 37-145), but my “transferrin saturation” was high at 68 percent (normal range 15-50 percent). Transferrin saturation, according to Catalase, is determined by dividing blood-iron concentration by the total iron binding capacity — how well blood can transport iron (my test on this came back low at 191 and normal range is 250-425) — and then multiplying by 100 to get the percentage. Anything over 50 percent saturation is considered a “warning flag” for hemochromatosis, Catalase writes.
I had stopped taking the iron supplement after the doctor’s appointment in an attempt for a more accurate base reading. My doctor told me under no uncertain terms am I to ever take an iron supplement again. She then ordered further testing for my liver as this organ is usually the first to show damage from iron overload. All these tests came back normal, thankfully, so now I wait awhile, making sure I take no iron supplements (or eat foods with iron added, such as fortified cereals and breads) and be tested again in six months to a year, depending on any symptoms, to see where I stand.
Now being more than a month off the supplements, I still get occasional heart flutters and accompanying shortness of breath. And the thyroid, I’ll just have to wait and see. I told my sister, Marie, who also has inherited the mutations, about everything I had learned and gone through. She said she has also experienced heart flutters, but also lack of energy, weakness and loss of body hair, such as eyelashes and brows. She reminded me of how Mom also experienced loss of body hair and how she had almost no eyelashes or brows in her later years.
Hemochromatosis symptoms tend to develop a couple decades earlier in men than in women because menstruation and having babies allows women to shed excess iron every month or during birth. It’s after menopause (or hysterectomy or any other event that stops regular menstruation) that women with the mutations really need to watch closely and begin treatment, which most commonly involves bloodletting. Marie had a hysterectomy about 14 years ago and so has to actively watch her iron and regularly remove excess. She told me she experiences joint and kidney pain and brain fog — along with the other above-mentioned symptoms — when she goes too long between blood donations.
Happily, I should have several years before menopause, so I shouldn’t have to stress too much over hemochromatosis for a while yet. I think as long as I lay off the supplements, I’ll be just fine for the time being. The biggest thing that has baffled me about all of this, however, has been the low-iron readings at BioLife. How could I possibly have low blood iron but also have iron overload? It seemed ludicrous.
Catalase says a person can indeed suffer from both anemia and hemochromatosis at the same time, and doctors tend to prescribe chelation therapy (in which a chelating chemical solution is administered via IV and circulates and “grabs” the excess iron and other heavy metals and escorts them out through the kidneys via urine) over donating blood for treatment in these cases. He doesn’t explain, however, how this is possible. Then I found this on the Iron Disorders Institute website:
“Anemia of chronic disease can also be present even when tissues have excessive levels of iron. Tissue iron is different from functional iron in hemoglobin. Persons with hereditary hemochromatosis can have excessively high tissue iron but develop anemia because of iron damage to the kidney, anterior pituitary, or bone marrow.”
Not something I wanted to read. I’ve noticed the low-iron readings kept increasing along with my increasing supplementation. Could I have possibly been damaging these body parts? I really don’t think I have any significant damage, but what if I did damage them to a degree? The Iron Disorders Institute says kidney damage can cause water retention and ankle swelling and anterior pituitary damage can lead to hypothyroidism, all things I’ve been struggling with and have worsened in the past year. Bone marrow damage hinders red blood cell formation, and my count was slightly low in my recent blood test. Maybe these symptoms have nothing to do with my iron intake, but maybe they do. It’s definitely something I’ll have to keep an eye on.
In the meantime, the best thing for me now is to wait and see, to be patient with my body and give it a chance to heal itself while providing it the ideal conditions (diet, exercise and limit stress) to do so. It amazes me how the human body is like a giant, miraculous jigsaw puzzle, everything interlinked and each piece an important part of the overall big picture. It’s just a matter of gradually putting all those pieces together to fully understand what optimal health means for each person.