What is Hemochromatosis?

Most people know about the iron deficiency condition called anemia. But what happens when your body has too much iron? Is it dangerous? In this episode we explore hemochromatosis - a disorder that could be lurking in your genes. Knowledge is the key to understanding and detecting this silent threat. 

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Unlock the mystery of hemochromatosis, an inconspicuous condition resulting in “iron overload” that is more common than you may think. Today we’re taking you on a journey to explore its subtle symptoms, impact on vital organs, and the importance of early detection. 

M: I’m Professor Megan 

S: and I’m Professor Susan, and we’re

Both: Your Nutrition Profs!

M: We are registered dietitians and college professors who have taught more than 10,000 students about health and nutrition. We have answered a LOT of questions about nutrition over the years – 

S: Some questions we get asked every year and some are rarely asked but very interesting.

M: We’re here to share our answers to these common (and uncommon) nutrition questions with you.

S: So bring your curiosity and let’s get started. 

Both: Welcome to our class!

S: Welcome everyone to our 35th episode! I really can’t believe we’ve done this 35 times!!

M: I can’t either! Thanks to all of our listeners who keep us going! You know, we have listeners in almost every state and more than 20 countries so far. 

S: I’m so grateful for our listeners. 

M: You guys are the best.

S: Well, today we’re discussing a genetic disorder that although it's fairly common in the realm of  genetic conditions, you’ve probably never heard of it. This condition leads to high levels of iron in your blood.

M: The sciencey term for it is hemochromatosis. It is most common in non-Hispanic whites. And in fact in this population it occurs in 1 of every 300 people. Other races and ethnicities have it too, but at lower rates.

S: And while it’s actually considered a rare disease, it’s a not-so-rare genetic disorder. 

M: Those with the condition have a mutation on their HFE gene which is located on Chromosome #6.

S: I, I just- it’s so hard for me to wrap my head around the fact that we know exactly where that gene is on a chromosome!

M: I know- science is amazing!

S: It really, really is.

M: Well this mutation causes the body to absorb too much iron from foods. Humans can’t increase their excretion of iron, so over-absorption leads to iron overload in the blood.

S: Thus the name of the condition: “hemo” means blood, “chroma” means color, and “osis” means  condition – so hemo-chroma-tosis. A condition of too much iron in the blood making it redder or darker. It’s also called hereditary hemochromatosis since the disorder is inherited from parents. 

M: It’s also called bronze diabetes or bronze cirrhosis, iron storage disorder, pigmentary cirrhosis, HC for hemochromatosis, or HH for hereditary hemochromatosis. But we’re going to call it HH. 

S: Iron is a necessary and essential mineral for the body. And most people know how important it is for blood. It plays a critical role in the formation of a protein called hemoglobin. 

M: Hemoglobin carries oxygen throughout the body. And while most of the iron in our bodies is concentrated in hemoglobin. Iron has several other important functions too. 

S: It helps to form a protein called myoglobin which transports oxygen in muscles, and it’s required for the electron transport chain to work properly. This is a system that helps us turn food into energy. 

M: Iron is also necessary for some enzymes and hormones to function. It is a big part of erythropoietin, also just called EPO, which is a hormone secreted from the kidneys which promotes the creation of red blood cells.

S: Iron is also necessary to convert an inactive thyroid hormone called thyroxine or T4 into its active form, T3. 

M: The amount of iron needed daily really depends on your age, sex, and diet. And if you are vegan or vegetarian, you actually need twice as much iron as a non-vegetarian of your same age and sex. So adult men of all ages and adult women aged 51 or older need at least 8 mg/day. Adult women aged 19 to 50 need 18 mg/day. And during pregnancy that number increases to 27 mg/day.

S: The upper limit for adults is 45 mg/day. And that’s the maximum amount you can safely consume from all sources, so food, medications, and supplements. 

M: The amount of iron in your body is closely regulated to maintain a steady state or homeostasis. Too little or too much iron causes problems. Most people, especially those who menstruate or are pregnant, have difficulty consuming and absorbing enough iron from the food they eat. In fact, iron-deficiency anemia is the most common mineral deficiency disorder in the world.

S: And we’re going to talk about iron-deficiency anemia on another episode so stay tuned! 

M: We absorb iron from food in our small intestine. If the body has adequate amounts, absorption is reduced to avoid excessive accumulations. And if the body needs more, more is absorbed. 

S: That’s really cool. I mean, that regulation is so crazy and it’s just automatic.  

M: It’s- the human body! But not all iron in foods that we eat is the same.

S: That is also correct. It comes in two forms. Heme iron is the type of iron found in animal foods like meats, poultry, and fish. Heme iron is very easily absorbed. Non-heme iron is also found in meats and fish, but it is the only form of iron in veggies, nuts, grains, legumes, fortified foods, and over-the-counter iron supplements. Non-heme iron is harder for the body to absorb. 

M: That’s why, as we mentioned earlier, those who consume largely plant-based diets like vegetarians and, of course, vegans must consume twice as much of this non-heme iron to be sure that they’re getting enough.

S: In a person with hereditary hemochromatosis, the mechanism for regulating iron absorption is faulty and that results in the body absorbing too much iron from foods.

M: Everyone stores and saves some iron in their body. Like we said before, most of it is part of the hemoglobin molecules in the blood that carry oxygen, but the rest is stored as ferritin, which is also found in the blood. 

S: The hormone hepcidin is especially important for the regulation of body iron levels. It’s produced in the liver and its job is to protect the body from excessive iron levels. It does this in two ways. First, it reduces the amount we absorb from the foods that we eat and second, it stops iron being released from our cells.

M: High levels of hepcidin inhibit the release of iron for storage as needed, it can also decrease absorption of iron in the intestines resulting in low blood levels of iron, like we said… anemia. 

S: But then the opposite then is also true. If you have low levels of hepcidin, iron will be easily released from storage AND you will absorb more iron from the foods that you eat, even though you may not need it.

M: So this is what’s happening to people with hereditary hemochromatosis. The pathway for the production of hepcidin is impaired, so they don’t make enough and this leads to having too much iron in the blood or iron overload. 

S: You know there are actually 4 types of hemochromatosis and they’re classified by the age of onset of symptoms, the genetic cause, and how it was inherited. But 3 types are really rare, so we’re just going to focus on the most common form called type 1 or “classic” hemochromatosis. 

M: This type affects about 1 million people in the U.S., mostly of Northern European descent. It’s considered an autosomal recessive genetic disorder. So that’s a sciencey way of saying that you inherited a copy of the mutated HFE gene from each of your parents. 

S: So remember that we all carry 2 copies of every gene. We inherit one from each parent. And your parents also had 2 copies of each gene. So each of your parents might have either 1 or 2 copies of this mutated HFE gene. If either parent had 2 copies of the mutation they probably had some symptoms of the condition. 

M: But if either of them only had 1 copy of the mutated gene, they may have had very mild symptoms or perhaps no symptoms at all. These are called “silent carriers”. It’s possible that these carriers can develop more symptoms of HH if they also develop diabetes or alcohol use disorder. And it’s estimated that about 10% of the US population are carriers.

S: But in order for you to have symptoms you’d have to inherit 1 copy of the mutated gene from each parent giving you 2 copies, and then you’d have the condition. If both parents are silent carriers, you have a 25% chance of inheriting the 2 copies. 

M: And if you only inherited one copy of the mutated HFE gene, you could be one of those “silent carriers” with no or only very mild symptoms.

S: If you want a little review of genetics, take a listen to our nutrigenomics episode from a few weeks ago! We covered a lot of genetics in that.  

M: Yeah, it was good. Ok, so let’s talk about some symptoms of hereditary hemochromatosis. The excess iron that you're absorbing from the foods that you eat begins to accumulate in your organs like the skin, your liver, your spleen, bone marrow, your heart, and pancreas. And iron can also accumulate in your joints.

S: Symptoms of type 1 HH usually begin in adulthood. In men, it’s usually diagnosed between ages 40 and 60 but they can have symptoms in their late 20s to 30s. 

M: In women, symptoms usually begin 10-15 years after menstruation ends. This could occur because of menopause, a hysterectomy, or even after discontinuing birth control pills. 

S: Well it makes sense that in women it would be diagnosed after menstruation ends. Because even though they may have high iron levels while they are menstruating, they would lose that blood during menstruation. 

M: Exactly, their iron levels in blood would begin to rise at that point and the extra iron ends up in organs. So after several years the excess iron would begin to cause symptoms and a woman may be diagnosed with HH. 

S: Well in early stages many people don’t have any symptoms, or the symptoms can be really mild. Early symptoms of HH include things like fatigue, weight loss, joint or abdominal pain, your skin can turn a bronze or a gray skin color, you might have some memory fog, and you may have low libido which is a loss of sex drive.

M: Eventually, iron can build up to toxic levels which can lead to organ damage that includes liver cirrhosis, liver cancer, irregular heartbeats, arthritis, and even diabetes. 

S: One symptom that is specific to HH is what is called “the iron fist”. This is severe joint pain in the knuckles of your first two fingers. Not everyone who has HH will develop this symptom, but if you get that symptom, you likely have HH.

M: You know, iron fist can of sounds like it might be a martial arts movie. 

S:I know, right?

M: I think it might be!

S: I think it was! 

M: Ok, alright, well the good news is that for most people with HH the symptoms are mild and manageable. But only about 9% will develop potentially severe liver disease. 

S: Unfortunately, HH is sometimes missed by doctors as, you know, a lot of the symptoms that we mentioned can be related to other diseases and conditions. 

M: Yeah, fatigue-

S: Yeah.

M: Joint pain.. I mean, as you get older…

S: Really nonspecific. 

M: Yeah. 

S: And for a long time, it was thought to be very, very rare and only an issue in older men. 

M: Of course…

S: Of course. 

M: Well, diagnosis is done via blood tests, and since these tests are fairly routine, this is usually how people with HH are found. Doctors will look at levels of ferritin, transferrin, hemoglobin, and things like iron binding capacity. 

S: If they suspect you have HH, they might have you do a genetic test for the HFE gene mutation. And if you’re having severe symptoms they may do a liver biopsy to assess your liver damage. 

M: Yeah, we don’t want to let it get that far, so early diagnosis is key. If iron levels can be normalized before you develop organ damage a person with HH can have a perfectly normal life expectancy. 

S: If it's left untreated though, you could develop severe complications, some of the things we mentioned earlier like problems with your bones and joints, the liver, heart, or spleen. You could also develop diabetes, become infertile, or impotent.

M: But there are several treatments for HH. The first is “therapeutic blood removal” or phlebotomy. And I always tell my students I think of this as modern day bloodletting.

S: That’s a good example.

M: But today, this is the same as going to donate blood at a blood bank, but it requires a prescription. 

S: You know, healthy people can donate 500 cc of blood every 8 weeks which is about a pint of blood, but in people with iron overload they may need to have blood removed as much as 8 times in a single month depending on their levels.

M: That’s a lot!

S: That is a lot. I had a student one time who had HH and he was going in several times a month for blood letting. 

M: Wow. 

S: Or donating blood but it’s not exactly the same. 

M: Yeah.

S: The goal is to bring down the blood ferritin level to the ideal range. And once it’s in range, then they start maintenance therapy and that means you’ll probably have to have blood removed every 2 to 4 months for the rest of your life depending on what your iron levels are. 

M: Another treatment option is medication that is specifically formulated to identify iron in the body, grab it, and carry it out of the body in urine and feces. And this is called iron chelation therapy. 

S: There are three FDA-approved medications for iron chelation therapy in the U.S. All are super expensive and they do have their own sets of side effects like diarrhea, vomiting, vision and hearing problems, and in rare cases kidney and liver injury. But they do work pretty well to bring iron levels down. 

M: But many people with HH have such mild symptoms that they’re manageable with dietary changes. So they would just need to consume a low iron diet.

S: Yeah, remember the heme and non-heme forms of iron? People with HH should avoid consuming animal foods like red meat, shellfish, and tuna which has one of the highest heme iron levels of all fish. Instead they should eat more veggies, legumes, and grains, they only contain non-heme iron which you’ll recall is not as easily absorbed.

M: There are things that can either improve or inhibit iron absorption, especially from non-heme sources. Vitamin C increases iron absorption, but tannins bind to iron and inhibit absorption. So people with HH should avoid vitamin C, when consuming iron rich foods, especially vitamin C in supplement form, and they should increase tannin consumption from things like tea.

S: For more information about tannins check out our wine episode from a few weeks ago!

M: That was such a fun one!

S: It was- one of my favorites! But those with HH should also avoid alcohol because it promotes iron absorption in the liver and can cause further liver damage. You should also avoid any supplements that contain iron like multivitamins. 

M: Once your levels are in the normal range you’ll still have to have yearly blood tests to check them out. You may also have a liver biopsy to check for liver damage, like cirrhosis. You’re also at higher risk for infections so you need to be careful with that too. And check with your doctor before getting vaccines,  especially vaccines for liver conditions like hepatitis A and B. 

S: So let’s bottom line hemochromatosis.

M: Alright, bottom line. HH is an inherited genetic disorder that causes the body to absorb too much iron from food. It is considered a rare condition but a not-so-rare genetic disorder.

S: Symptoms are caused by the accumulation of iron in organs, especially the liver, spleen, bone marrow, skin, and joints. If iron levels aren’t reduced, this extra iron can lead to severe complications like liver cirrhosis, liver cancer, heart problems, and arthritis.

M: It is usually diagnosed in adult males aged 40 to 60 years and females 10-15 years after menstruation ends. It is most common in those of Northern European descent.

S: Hemochromatosis cannot be cured, but treatments like therapeutic blood removal, iron chelation therapy, and certainly dietary changes can help bring iron levels into the normal range and that way you can avoid severe complications.

M: Many with HH can manage symptoms just by those dietary changes – increased consumption of plant foods and foods containing tannins like tea and avoiding animal products like meats and shellfish and vitamin C and iron supplements.

S: So that’s it for our deep dive into hemochromatosis. Thanks everybody for listening!

M: Join us next time when we will answer the question: Does stress cause ulcers?

S: It’s going to be a good one!

Both: Class dismissed!

S: We hope you enjoyed this episode. You can find the show notes and a list of sources on our website, yournutritionprofs.com. 

M: Your homework is to follow us at your nutrition profs on Instagram and to listen to our next episode. You can listen on Amazon Prime, Apple Podcasts, Spotify, YouTube, or anywhere podcasts are found. We’d appreciate it if you’d “like” us, write a review, subscribe, and invite your family and friends to join us too. 

S: If you have a nutrition or health question you’d like answered, let us know! We may even do a show about it! Send an email to yournutritionprofs@gmail.com or click on the “Contact Us” page on our website.

M: Thanks to Brian Pittman for creating our artwork. You can find him on instagram @BrianPittman77

Both: See you next time!