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Too Much Iron, Simple Solution: Managing Hemochromatosis · Bryan Health Podcasts

• 0:03
  Melanie Cole, MS (Host): Welcome to Bryan Health Podcast.
• 0:05
  I'm Melanie Cole.
• 0:06
  And today, we're talking about a condition that can quietly cause
• 0:09
  excess iron to build up in the body.
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  And if it's not recognized and treated, that iron can damage important organs.
• 0:16
  We're talking about hemochromatosis.
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  Joining me is Dr.
• 0:20
  Stacey Knox.
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  She's a medical oncologist hematologist with Cancer Partners of Nebraska.
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  Dr.
• 0:26
  Knox, thank you so much for joining us today.
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  So, start with the basics for us.
• 0:30
  What exactly is hemochromatosis, and why does the body accumulate too much iron?
• 0:36
  Stacey Knox, MD: This is what traditionally was
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  known as the Celtic curse.
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  Basically, it's one of the most common genetic disorders in people
• 0:43
  of Northern European ancestry and happens in approximately one to
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  150 to 400 Northern Europeans.
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  What happens is there's a dysregulation in the body's ability to absorb iron.
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  We have a stop signal essentially called hepcidin.
• 1:05
  And in patients who have this disorder, they don't have enough hepcidin.
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  And so, they keep absorbing iron from food to a point that it is beyond the body's
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  ability to get rid of it in a natural way.
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  Once this iron has accumulated, it starts to be distributed into other
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  tissues, and iron can become oxidative, sort of like rust, if you think of it.
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  And this rusty material gets, deposited into organs such as
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  the liver, pancreas, and thyroid.
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  When that happens, it starts causing scarring of these tissues,
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  and patients will develop diabetes and cirrhosis most commonly.
• 1:55
  Melanie Cole, MS: Well, thank you for that.
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  So Dr.
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  Knox, when we hear the term iron overload, many people think,
• 1:59
  "Isn't iron something that we need?
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  I hear I'm supposed to take iron."
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  Can you just give us a quick understanding of the difference
• 2:06
  between having enough and too much?
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  Stacey Knox, MD: Enough iron means that you're able to make your
• 2:11
  red blood cells and your muscle tissue, and it's all functional.
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  At some point, we have so much iron that the body has to start
• 2:21
  depositing it into other places.
• 2:24
  And in that situation, it's essentially put into the tissues, as a storage
• 2:30
  form that is oxidative, unfortunately, so that it can cause damage.
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  Up until that point, your body is regulated and using the
• 2:39
  iron just for production of any tissue that is carrying oxygen.
• 2:44
  Melanie Cole, MS: Now tell us a little bit about genetics, because we've
• 2:48
  heard that this could be genetic.
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  What should people know about the genetic component for hemochromatosis?
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  Stacey Knox, MD: So, it is only significant when you have inherited
• 2:58
  two abnormal genes from your parents, meaning that both parents had at
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  least one copy to share with you.
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  Outside of that, it is not a process that actually results in iron overload.
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  And so, there's two common genes that we see.
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  The most common is C282Y, and having two copies of this accounts for about
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  95% of the cases of iron overload.
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  The other gene that we can see is called H63D, and this only causes iron overload
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  when it is also seen with a copy of C282Y.
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  And so, those are the only two instances where we actually
• 3:44
  see people have overload.
• 3:47
  Otherwise, they manage the iron fairly normally.
• 3:50
  Melanie Cole, MS: If someone in the family, and we're going to talk a little
• 3:53
  bit about diagnosis and presentation, but if someone is diagnosed with
• 3:57
  hereditary hemochromatosis, what does that mean for their children,
• 4:01
  siblings, other family members?
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  Stacey Knox, MD: So if mom is diagnosed with hereditary hemochromatosis and
• 4:08
  the fact that she actually has iron overload, that means that she would
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  have two copies of abnormal genes.
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  That means all of her children would have at least one copy.
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  Whether they could potentially have two depends on their father's genetics.
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  And since this is a relatively common genetic abnormality in Northern Europeans,
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  we will then have to check father to see if he also has copies to contribute
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  Melanie Cole, MS: Now, tell us about diagnosis and clinical presentation.
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  One of the challenges seems to be that early hemochromatosis can be very
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  nonspecific, and if someone doesn't know that this could be a genetic
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  component in their family, what symptoms might bring someone into the
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  doctor's office in the first place?
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  Stacey Knox, MD: You're right.
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  It is very non-specific.
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  Generally, we see patients complaining of some fatigue and
• 5:00
  maybe some joint aches and pains.
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  But beyond that, they're relatively normal feeling.
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  If they have these complaints and their primary care provider checks
• 5:11
  for iron testing to see if iron is in some way related to their
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  complaints of fatigue, they will find that the iron saturation is high.
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  It's called a TSAT, and they'll also find the ferritin is high.
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  This testing is a little difficult because both of these have variations that can
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  happen on a day-to-day basis or because of underlying infection or inflammation.
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  So typically, if we're seeing abnormal ferritin in saturations, we want
• 5:45
  to repeat the tests and see if they continually are elevated over time.
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  To make the diagnosis, you need to do genetic testing.
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  If people have consistent elevation of the T saturation above 45 and a ferritin above
• 6:06
  300 in men or 200 in women, then they should be evaluated by a blood specialist
• 6:12
  in order to get genetic testing done.
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  Melanie Cole, MS: Well, Dr.
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  Knox, if it is something that is diagnosed, speak about treatment.
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  And for patients, tell us what treatment might involve.
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  Is this something that is fairly treatable?
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  Stacey Knox, MD: It's very treatable.
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  I love this disease because basically what happens is you just have to donate blood.
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  And so, for people who are normal and healthy and just have iron
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  overload, they can donate units of blood to the blood bank.
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  And because we are dropping their red blood cells down, the body is forced to
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  make more, and that pulls the iron out of storage and starts limiting or preventing
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  the disease and damage that is occurring in the liver, pancreas, and other organs.
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  So, blood donation is done in an attempt to keep the ferritin
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  below—fifty is about the goal I usually go to on a lot of patients.
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  That means that they can donate every three to four months and be able to
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  keep their ferritin in the goal range and to help with their symptoms.
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  Melanie Cole, MS: Well then, how often might someone need treatment initially,
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  and does that change once their iron levels are more under control?
• 7:25
  Stacey Knox, MD: Exactly.
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  So initially, they could need a lot of treatment.
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  I've seen ferritin as high as 1500, which is five times above the normal
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  range for men and nearly eight times above the normal range for women.
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  And so, in that situation, we have to get the iron down quickly in order
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  to prevent the end-organ damage.
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  we will actually have them donate weekly, as long as we have to in order to get the
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  ferritin down to a more acceptable range.
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  Like I said, typically, I go for about 50, as long as the patients can
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  tolerate the weekly blood donations.
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  Melanie Cole, MS: Dr.
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  Knox, this is really such an interesting, as you say, disease.
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  You know, it's fascinating to talk to you about this.
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  Speak about outcomes.
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  What about long-term outlook?
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  If someone is diagnosed and treated appropriately, what can patients
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  expect in terms of life expectancy and, importantly, quality of life?
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  Stacey Knox, MD: Excellent for all of the above.
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  They basically become very good friends with the blood bank, and they donate
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  blood for the rest of their lives and have a normal life expectancy as long
• 8:35
  as they're treated appropriately.
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  There are some things that can contribute to a later diagnosis.
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  Women obviously in a pre-menstrual age are menstruating regularly.
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  And so, they're already making blood donations on a regular basis and don't
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  need to do anything additionally to just their normal menstrual life, essentially.
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  In the post-menopausal period is when we do see that women, typically,
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  will have to start donating
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  Melanie Cole, MS: Dr.
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  Knox, you've given us such great information today.
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  For someone listening who may have a family history or abnormal iron studies,
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  what's the most important message you'd like them to take away today?
• 9:15
  Stacey Knox, MD: It's not something to worry about.
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  This is a very preventable process, and carrying it does
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  not mean that there's something life-threatening about your genetics.
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  In reality, do the screening tests if there's a family history, getting
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  the iron testing on a fasting stomach and, you know, repeat it a few times.
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  And if it continues to be elevated, then, you know, we'll do the testing necessary
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  to confirm the diagnosis if needed, and people will live a normal life expectancy.
• 9:45
  Melanie Cole, MS: Wow.
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  Thank you so much for joining us, Dr.
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  Knox, and sharing your expertise, and really for helping us to
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  understand hemochromatosis.
• 9:54
  So, thank you again, and I'd like to thank our Bryan
• 9:56
  Foundation partner, Artie's Site.
• 9:58
  To listen to more podcasts from our experts, please visit
• 10:01
  bryanhealth.org/podcasts.
• 10:04
  That concludes this episode of Bryan Health Podcast.
• 10:07
  Please always remember to subscribe, rate, and review Bryan Health Podcast on Apple
• 10:11
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• 10:14
  Until next time, I'm Melanie Cole.