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Hemochromatosis: Iron Overload Disease

Updated: Sep 28, 2022

My entire life my hemoglobin has been high and I always joked that clearly I was meant to be a mountain girl, because high hemoglobin generally means I can carry oxygen well. This also meant I could handle a postpartum hemorrhage better than most, although this was the one complication I never suffered. It wasn't until just last year that I cared for my first client with hemochromatosis and since that time, I've had five more and have found the genetic predisposition in my own epigenetic profile. My cousin recently contacted me and said he had discovered the same in himself after a recent hospital stay, but that's how it typically is in clinical practice - things come in batches, giving us opportunity to really learn.

Hemochromatosis is the leading cause of #iron overload disease. It's real. It's quite common. It's genetic. These individuals simply load too much iron and this excess iron can be damaging to the joints, organs and if left untreated, can be fatal.

There are a few different types - the first being classic hemochromatosis (#HHC) and is the leading cause of iron overload disease. These individuals absorb extra amounts from their daily diet and aren't as efficient at eliminating it from their body so over time this iron builds up in their heart, liver, pancreas, joints, and in their pituitary. If the extra iron is not removed, these organs can become diseased, and ultimately fatal.

Iron is an essential nutrient found in many foods. It carries oxygen in our #hemoglobin to all parts of the body. Generally we absorb about 8 to 10 percent of the iron in foods that we eat, but individuals with hemochromatosis can absorb four times more iron than normal. This puts us at risk for diseases and conditions such as diabetes mellitus, irregular heart beat, heart attacks, osteoarthritis, osteoporosis, cirrhosis of the liver, gallbladder disease, depression, impotence, liver cancer, infertility, hypothyroidism, hypogonadism, and several cancers. Mismanaged iron in the brain has been observed in autopsies of people with neurodegenerative diseases such as Alzheimer's, early onset Parkinson's, epilepsy, multiple sclerosis, and Huntington's disease.

People of Northern European ancestry are the most at risk for the classic type of #hemochromatosis. More than one million Americans have the genes for this type; however, there are other gene combinations that result in hemochromatosis regardless of a person's ethnicity. It is estimated that as many as 16 million Americans have some degree of elevated iron and are at risk for the same diseases that occur in people with the untreated classic type: bone and joint disease, cirrhosis, liver cancer, diabetes mellitus, hypothyroidism, hypogonadism, infertility, impotence, depression, or premature death due to liver or heart failure.

How do I Know if I am at Risk?

Chronic fatigue and joint pain are the most common complaints of people with hemochromatosis which is why diagnosis is often delayed. These two symptoms are common in many, many conditions so it goes unrecognized. Pain in the knuckles of the pointer and middle finger, collectively called "The Iron Fist," is the only sign or symptom specific to hemochromatosis. However, not everyone with HHC will experience the iron fist.

Lack of energy, abdominal pain, memory fog, loss of sex drive, heart flutters, and irregular heart beat are other common complaints associated with hemochromatosis. Men often identify their symptoms began late into their second decade of life, or early third decade. In women, symptoms generally start about ten to fifteen years after they stop having their menses as this bleeding reduces their iron stores, whether that's due to menopause, birth control pills, or a hysterectomy.

Diseases we find when left untreated are osteoarthritis or osteoporosis which occurs in the knuckles, ankles, and hips. An enlarged liver, cirrhosis, cancer, and liver failure are other findings, along with abnormal coloring of the skin - bronze, reddish, or ashen-grey. An enlarged heart, congestive heart failure, and an irregular heart beat, diabetes, hypothyroidism, hypogonadism, infertility, impotence, hormone imbalances, and an enlarged spleen are other findings common to undiscovered hemochromatosis.

Unfortunately, this is quite often overlooked by clinicians who are concentrating on treatments of disease or masking symptoms, but not digging for the underlying issue. For example, giving pain medications for joint pain or testosterone for impotence. We are often taught as clinicians, that hemochromatosis is specific to old men, but when discovered early, before organ damage occurs, these individuals can live a normal, healthy life.

What Tests Might I Need?

Our clients are encouraged to understand their epigenetics as part of their wellness plan, so this would be evident on that report. However, we also offer a general wellness panel as part of our lab testing, and this will help identify early clues of hemochromatosis. When those are identified, we move towards a completely iron panel, including serum ferritin, total-iron-binding-capacity, transferrin, hemoglobin, and serum iron.

The serum iron is best evaluated after three hours of fasting, and not while taking iron or vitamin C supplements or at least for the last three days. The serum ferritin measures the amount of iron contained or stored in the body. These reference ranges are tricky though because while there is a wide range, we want some but not too much as that can indicate the presence of #inflammation. Ideal is argued among clinicians.

Total iron binding capacity tells how well your body can bind to iron, by figuring the total iron divided by TIBC x 100 offering the transferrin-iron saturation percentage. This is usually about 25 to 35 percent, although in those with iron overload, it can be quite high. In some types of iron overload though, it can still be normal.

The hemoglobin is the value that determines the absence or presence of anemia, more typically. It does not quantify iron but hemoglobin levels are vital to determining the therapy for iron reduction (or replenishment). In the case of iron reduction, Hgb needs to be sufficient for blood removal otherwise, iron #chelation might be considered. Transferrin is sometimes included in the iron panel, which is a protein that transports iron from the intestines into the blood and in the past, the liver biopsy was widely used for diagnosis. Today this isn't really necessary to diagnose the inherited form as DNA tests are available to determine if a person has genetic hemochromatosis, although the liver biopsy is the gold standard for assessing liver health.

As I've mentioned, epigenetics is a huge focus in our practice. This is the script for which you were written, but of course, with awareness you can go off-script a bit and free style so to speak when you know your triggers and predispositions. HFe is the name of the gene for hereditary hemochromatosis. One is inherited from your mother and one from your father. When a person has one "mutated copy," he or she is called a carrier or heterozygotes. When a person has two of the same "mutated copies," he or she is called a homozygote for this specific gene. When the two different genes are "mutated" or are SNPs, then we call this a compound heterozygote.

HFe stands for high iron, H for the word "high" and Fe being the symbol for iron. Hereditary hemochromatosis is a metabolic disorder that can result in iron overload (excess iron); undetected the excess iron can lead to several disease states and even death.

This can be a simple cheek swab although if wanting a full genetic profile, you may need to collect a small amount of spit in a vial. There is no need for a blood draw or even an order by your clinician. 23&Me can offer this testing, and if you are concerned about privacy, offer them a fake name and email. You will know who the results relate.

The HFe gene helps to control the amount of iron absorbed from food, and can be identified in your genetics as C282Y, H63D, and S65C. I have the H63D C from one parent and H63D G inherited from my other parent, marker rs1799945. The G parent is where I obtained the SNP, so we identify this as heterogenous and gratefully, this is not likely to express itself; however, I do have liver disease, which has been contributed to significant stress and cortisol, and I have arthritis in my first two fingers and a long history of high hemoglobin.

Those most at risk are those with C282Y homozygote and the C282Y/H63D compound heterozygote. Those with more moderate risk are those with H63D homozygote (both copies SNP) or other compound heterozygote combinations. We don't really see this in the 23&Me testing. The lowest risk are those with C282Y heterozygote (carrier) and the H63D heterozygote (carrier) or the C65C heterozygote (carrier), but again, because 23&Me doesn't test for the C65C in their panel, this one goes unknown whether homozygous or contributing to a compound heterozygote combination. Risks are also modified by other genes, the environment, and many unknown factors. If you have any of these "mutated copies" or SNPs, connect with your clinician. We are happy to help you understand this finding, and will encourage an evaluation of your hemoglobin, fasting serum iron, TIBC, and serum ferritin.

If you have your epigenetics report and you find two copies of the C282Y, then as a biologic male, you have 24 to 36 percent chance of hemochromatosis and if a biologic female, you would have four to fourteen percent. One copy of C282Y variant and one H63D variant offers men a 3 percent risk and women, about 2 percent. Other genotypes, such as my own, are not likely to increase risk. About 91 percent of all cases of HFe-related hereditary hemochromatosis are caused by the two variants included in the 23&Me genetic testing, C282Y and H63D.

Interesting Points to Consider

Excessive alcohol consumption can lead to liver disease in anyone, but in those with hemochromatosis, the liver is already at risk for damage from iron overload so it doesn't take as much alcohol to cause grave risk. Studies have shown for example, that those with two copies of C282Y variant who have more than three to four drinks daily are significantly more likely to develop liver disease than those who drink less.

Iron is an essential nutrient that the body needs to function properly. Consuming foods high in iron or taking certain supplements can increase the amount of iron stored in the body. For people with hemochromatosis, this may increase the chances of developing symptoms of iron overload. Interestingly, one of the more popular tests in my practice is the mediated release testing, which identifies foods, chemicals and dyes which create inflammation in the body, and many times these can be eliminated but we learn through LEAP therapy that some are genetic or specific to the individual. Beef is one of my biggest triggers and ironically a source of significant iron. Eliminating red meat has helped lower my hemoglobin as well, potentially my body already knew this.

The Fun Part: Treatment

Believe it or not, the treatment for hemochromatosis is blood-letting. Yep, good-old-killed-President-William-Henry-Harrison-blood-letting. When iron levels are excessive, they must be brought down into the optimal range and the most therapeutic method is blood removal, or phlebotomy. This is most often done through regular blood donation, but therapeutic phlebotomy requires a doctor's order or prescription.

Regular blood donation can be done every eight weeks. A person with severe iron overload may need to give blood as much as eight times in a single month. The goal is to bring the blood ferritin level to a range of about 50 to 150ng/mL. Depending on the amount of iron overload, at the same time as diagnosis, reaching normal levels can require several phlebotomies.

Serum ferritin drops about 30ng/mL with each full unit (500cc) of blood removed. When ferritin falls more rapidly following a phlebotomy, there is likely some other reason for the fast rate other than the blood donation, so we would then consider inflammation, changes in alcohol consumption, changes in medication, or nutrient deficiencies, such as vitamin B12.

Once iron levels reach normal, a person can begin maintenance therapy, which involves making a blood donation every two to four months for life. Some people may need to give blood more or less depending on what they eat and how quickly their body absorbs iron. The transferrin saturation and serum ferritin tests can be done periodically to help determine how often the blood should be removed.

When hemochromatosis is diagnosed early and treated before organs are damaged, a person can live a normal life expectancy. For people who have the disease at the time of diagnosis, life expectancy may be shortened depending upon the disease progression. If diagnosed and treated before serum ferritin is above 1,000ng/mL, the risk of cirrhosis or liver cancer is less than one percent.

Iron chelation therapy is the removal of iron using medicine specifically formulated to identify iron, grab it, and carry it out of the body. This is reserved for individuals whose hemoglobin values are too low to tolerate blood donation or phlebotomy.

Individuals with hemochromatosis will have to be mindful of eating red meat as well, being that it is a great source of heme iron. Beef, venison, lamb and buffalo, as well as bluefin tuna are specific sources of heme iron, which is the most easily absorbed. Iron can also be found in other meats, all meats in fact, and most vegetables, fruits, nuts, grains, and most multivitamins but this is the non-heme iron which is not as readily absorbed.

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