My Hemochromatosis Journey
Mostly a not talked about White person illness
It is said that if you hear the thunder of hoofbeats expect horses not zebras. To which I say, that depends where you live. If I was living where herds of water buffalo lived, I would expect a herd of water buffalo. Medical science views things through the lens of what’s commonly understood by a doctor, but doctors are not all-knowing gods, and much of how things work with the human body is still a mystery.
My journey began with 23andMe providing me with an updated genetic result showing that I was a carrier for hemochromatosis (heterozygote). Widespread genetic testing for this disorder is not considered normal medical practice but is included with personal genetic testing groups like 23andMe.
Having a child with a rare genetic deletion disorder (VCFS), I knew that sometimes carriers could have a presentation of the disease. So, during my next physical, I had my iron tested. The iron levels came back normal, except other iron-related results, like ferritin, showed I was anemic. Anemia in men is unusual but could explain some of my constant exhaustion. My primary care physican (PCP) was confused, as you can imagine, and thus began me trying to figure out exactly what hemochromatosis was, what was the anemia connection, and if I had any of the other types of hemochromatosis.
What Hemochromatosis Is…
Hemochromatosis primarily affects people of “Northern European descent” and it’s “less common in people of Black, Hispanic and Asian ancestry.” Men are more likely to have symptoms than women at an earlier age and being genetic, it typically runs in families, with hereditary hemochromatosis impacting one in 300 people in the U.S.
There are multiple signs of someone having hemochromatosis, from chronic fatigue to heart attacks to skin color changes to cirrhosis to arthritis to diabetes to depression to even impotence (Garrison, 2009). The list of things that can go wrong is very extensive, as a buildup of iron in the human body can cause a wide range of problems.
Hemochromatosis is a genetic form of iron poisoning, dealing primarily with two copies of a mutated HFE gene. But as the human genome becomes more known, they have identified more genes that can also cause iron overload. Iron overload being initially defined as having very high serum ferritin levels, among other certain iron blood markers being highly elevated.
Ironically, it’s a myth believed in the medical community that elevated “serum ferritin levels” may mean you are a carrier when in reality this is common to “all ethnic groups.” Even a compound heterozygote (C282Y/H63D) or C28Y heterozygote with “unidentified second mutation” could have “mild iron overload.”
What Does This All Mean…
The problem is iron, like most metals absorbed by the human body, is not easily shed from the body. We lose iron amounts through the shedding of intestinal cells (enterocytes), hair, sweat, loss of skin cells, and menstruation for women (which is why women are more anemic than men). For those suffering from hemochromatosis, the only known treatment is bleeding them like some medieval barbershop.
My problem is most geneticists and specialists will dismiss carriers because original data has shown a lack of iron overload. For example, I’m typically dismissed because of the anemia results and carrier status, but the reality is I’m on blood thinners and other medications which are going to distort various iron measurements and show me as anemic. So, a physician cannot trust those results. The reality is standard iron blood tests can be unreliable because of conditions like infections, fevers, liver disease, kidney disease and cancers that can elevate the results.
A physician would have to use other observations, such as my enlarged liver and spleen, impotence issues, diabetes, and tachycardia heart rhythm. All symptoms of iron overload, but also possible symptoms of other diseases that must be ruled out.
The reality of genes is that regardless of if a person is a heterozygote or homozygote, depends upon the dominant or recessive nature of the gene on how the expression will take place. Except having certain genes, regardless of dominance, can predispose people to risks depending on environmental factors.
Hereditary hemochromatosis is currently “considered an autosomal recessive disorder because both copies of the HFE gene… need to have a particular mutation for the disorder to present itself.” (Garrison, 2009) At least this is the current understanding.
Except, a careful look into the research shows that those who are carriers can, under certain circumstances, exhibit iron overload. Scientists have detected increased heart disease in carriers. There seems to be a scale of higher iron processing depending upon the combination of gene types with the highest absorption going to the one commonly associated with hereditary hemochromatosis.
The issue with iron processing is that a lot of it depends on factors such as source and the composition of the person’s diet. Most sources say the body absorbs only “2–20% of nonheme iron” with nonheme iron being affected by “a number of factors.” Certain vegetable compounds, tea, coffee, and calcium can negatively impact iron absorption. In contrast, heme iron, which comes from meat products, is “well absorbed,” especially in the presence of vitamin C.
Adding to this is the fact that sugar can help with iron absorption up to 50% more from added sources according to a 1976 study. This was additionally backed up by a 2013 study showing that non-heme iron was absorbed by 300% in the presence of sugar, like high fructose-corn syrup, in our livers. So, with our increased sugary food environment in the US, there’s a good chance that people have been exposed to accumulated iron overload which doesn’t show until past the age of 50 as diabetes, non-alcoholic fatty liver disease, or even a heart attack.
Typically, a doctor doesn’t test a person’s iron levels, and it’s not part of a standard CBC panel. And with the medical understanding of hemochromatosis being that of an autosomal recessive disorder, there’s no concern of iron overload occurring in carriers. You wouldn’t even reach the medical decision point for a biopsy unless the person is HFE gene negative (like me), has unexplained elevated iron, and “family history of liver disease.” Doctors could use an MRI as a quick way to “accurately estimate iron deposition levels in the liver… heart, joints, and pituitary gland.” The problem is that no private US health insurance is going to cover either a biopsy or MRI without that initial blood work showing elevated iron.
Hemochromatosis, as medically understood today, is, in fact, less about how iron is absorbed and stored in the body genetically and more about the total quantity of iron measured. If you don’t meet that total quantity, then you don’t have it, regardless of the genes. Unless you happen to have a “first-degree relative with hereditary hemochromatosis and you are between 18 and 30 years of age,” which means they would do preventive genetic screening. Which means you could have hereditary hemochromatosis, but because of your diet, the fact you’re a woman, diabetic, and over fifty and on blood thinners, you don’t have it because you lack the blood markers for it despite having the genes for it. Meanwhile, your body could have been slowly stuffing away iron into your liver and pancreas while starving other parts of the body due to how genes are activated or not.
The thing is medical science doesn’t really know at what point does accumulated iron over time cause certain metabolic changes to occur. Medications masked my true iron levels, so my physician does not know if my enlarged liver is a byproduct of years of accumulated iron or if my diabetes is from the same results as my pancreas.
Genetically, all they know is I’m a carrier, but not without a biopsy or MRI scan can my doctor be certain if I’m suffering from years of accumulated iron or simply accumulated visceral fat. Even though a 2021 study showed “excessive % body fat was significantly associated with increased serum hepcidin and ferritin and an increased prevalence of severe risk of iron overload amongst males independent of dietary iron intake.” With both serum ferritin and serum triglycerides being positively correlated.
While the genetic combination that produces an extreme absorption problem is rare, despite affecting “more than a million people in America”, between our food environment, other gene combinations, and the fact the human body doesn’t readily shed excess iron (unless you are a woman), there’s a chance that more carriers could experience symptoms than previously thought of and are being simply dismissed because of a scientific assumption of how this genetic disease works (Garrison, 2009).
In fact, SciTechDaily reported on December 5, 2022, about a University of Missouri School of Medicine study that showed men responded poorly compared to women with sugar intake (as in six cans of sugary soda per day). The study didn’t investigate iron issues, but considering how iron and sugar absorption are connected, this could simply show the impact of iron and excess sugar in combination and that women may be more naturally protected via menstruation under certain conditions (like the lack of obesity that can disrupt hormonal cycles).
I think it’s time we re-look at iron overload and the role of iron in our diet, especially considering the U.S. sugar intake, obesity, and diabetes epidemic in the U.S.
Note
There’s a special type of hemochromatosis called African Hemochromatosis that affects mostly people from sub-Saharan Africa. But I suspect that anyone who has recent mixed ancestry with Europeans, such as Irish, could be affected with other hemochromatosis types common to white people. I also suspect that our high fructose food ecology may affect even the normal wild-type gene, causing a long-term buildup of iron in organs, along with fat. Thus, it is possible that no race is ultimately immune to iron overload.
Book Citation
Garrison, C. D. (2009). The Iron Disorders Institute
