General Discussion Triathlon Talk » Hemochromatosis, anyone? Rss Feed  
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2009-07-24 2:24 PM

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Subject: Hemochromatosis, anyone?
Looks like I have inherited hemochromatosis...hematologist ordered more definitive tests yesterday, but his reading of my iron studies from my PCP were--as he put it--"pretty persuasive," so I'm preparing for the likely treatment scenario.  This means 3 to 6 months of frequent phlebotomies...which means regular periods of anemia, which means limited training...with a goal of getting me to a "maintenance" level of iron requiring much less frequent blood withdrawals.

I can time the aggressive phase of treatment to coincide with the "off season", but I'm registered for IM St George in May and my intention is to work with the doctor--assuming I get to the target iron values in a timely manner, of course, and there are no other underlying issues--to try to schedule the ongoing phlebotomies in concert with my training calendar.  Anyone here doing endurance training while undergoing treatment for hemochromatosis?  (Or any knowledgeable feedback about my intentions here?)

(E.T.A.:  FWIW, I'm 49 y.o. and otherwise asymptomatic.  My dad was diagnosed with the disorder last year, which is why I got tested.)

Edited by tcovert 2009-07-24 2:27 PM


2009-08-11 12:04 AM
in reply to: #2306348


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Subject: RE: Hemochromatosis, anyone?
I'm guessing your ferritin and transferin levels were high.  Have you gotten results for HFE genetic tests?  Is a liver biopsy in order?

Confirm with your M.D. -- Maybe your H&H will not drop to such levels after the phlebotomies that it would drop your 0xygen carrying capacity below threshold levels for training. 
2009-08-12 4:52 PM
in reply to: #2340515

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Subject: RE: Hemochromatosis, anyone?
robbmt - 2009-08-10 10:04 PM I'm guessing your ferritin and transferin levels were high.  Have you gotten results for HFE genetic tests?  Is a liver biopsy in order?

Confirm with your M.D. -- Maybe your H&H will not drop to such levels after the phlebotomies that it would drop your 0xygen carrying capacity below threshold levels for training. 


Iron and transferrin were high...lab didn't do ferritin saturation that my PCP requested, so that one is up in the air.  Hematologist ordered genetic test (along with a whole lot of others)...I'm still awaiting results.  Thanks for response.
2009-08-17 12:51 PM
in reply to: #2306348

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Champion
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Subject: RE: Hemochromatosis...yup

Doc's office called this morning...genetic test was positive for inherited hemochromatosis.  Looks like I'll be finding out how it works to train for an IM while getting regular blood withdrawals.

2009-08-17 1:22 PM
in reply to: #2306348

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Subject: RE: Hemochromatosis, anyone?
Sorry to hear the diagnosis, Todd.  Have you done any other research re: endurance athletes and hemachromatosis?  Docs have anything to say re IM training?
2009-08-17 1:39 PM
in reply to: #2353626

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Champion
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Subject: RE: Hemochromatosis, anyone?
Hemo's initial response at the first consult was pretty much wide-eyed surprise that someone would even contemplate endurance sports as an option...but he didn't understand why anyone would do marathons or triathlons at all, regardless of health.  Seems like pretty unknown territory.  We discussed the timing of my initial treatments (i.e., waiting until after Malibu Tri next month) and that's no biggie...there's no immediate threat to my health, so when I start is flexible.  The key question I posed was:  How long does it typically take on frequent phlebotomies to get iron levels into the maintenance range and he said it was generally 3-6 months.  So if I'm on the short end of that range (and I have some reasons to believe I will be), that gets me into much less frequent anemic periods starting about 20 weeks before my taper for IMSG.

Anyhow, post-diagnosis consult is on Aug. 31, so I'll know more then.


2009-08-17 5:14 PM
in reply to: #2306348

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Subject: RE: Hemochromatosis, anyone?
This abstract answered one question my wife and I were kicking around:  Whether increased iron due to the disease has any positive impact on endurance.  It appears not.  Which is good...since it implies I won't lose endurance after treatment.

http://journals.lww.com/acsm-msse/Abstract/2007/01000/Exercise_Capacity_of_Cardiac_Asymptomatic.2.aspx
2009-08-17 8:14 PM
in reply to: #2306348

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Subject: RE: Hemochromatosis, anyone?
I'm assuming every time you will have about a unit of blood taken--max 10% of your total blood volume. There shouldn't be any serious cardiovascular complications that occur with this amount of blood loss; however, you must consider the frequency of your phlebotomies because another thing to consider with frequent phlebotomies is fluid balance...If you were only getting a single one done it wouldn't be a big deal, but having a phlebotomy twice a month for example might start to mess with your CV system during training both acutely (right after blood loss) and chronically (days-weeks)...If you are having phlebotomies relatively close together, each one could compound the negative training effects on the others.

Right after blood volume loss your CV system will kick into gear to maintain your blood pressures--you probably wouldn't necessarily notice if you were sedentary, but because of the training load, you might feel fatigued or extremely stressed while training due to an already elevated heart rate and peripheral vascular resistance. Also, your body will try and make up the fluid loss through increasing anti-duiretic activity...this will exacerbate the anemia due to phlebotomy through a dilutional effect (as the kidneys "work" faster than the marrow generating a larger stock of RBC's due to increased EPO). This is just a general compensatory mechanism to maintain homeostasis, but you might find it to be detrimental to your capacity to train (specifically your capacity to train for endurance activity). The loss of iron isn't the only thing to consider.

I'm just sort of rolling through the pathophysiological significance of your situation on endurance training. I'm not exactly certain of the clinical manifestations of hemochromatosis treatment...Just some extra things to think about and ask your physician about...

2009-08-18 1:10 AM
in reply to: #2354539

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Subject: RE: Hemochromatosis, anyone?
mndymond - 2009-08-17 6:14 PM I'm assuming every time you will have about a unit of blood taken--max 10% of your total blood volume. There shouldn't be any serious cardiovascular complications that occur with this amount of blood loss; however, you must consider the frequency of your phlebotomies because another thing to consider with frequent phlebotomies is fluid balance...If you were only getting a single one done it wouldn't be a big deal, but having a phlebotomy twice a month for example might start to mess with your CV system during training both acutely (right after blood loss) and chronically (days-weeks)...If you are having phlebotomies relatively close together, each one could compound the negative training effects on the others.

Right after blood volume loss your CV system will kick into gear to maintain your blood pressures--you probably wouldn't necessarily notice if you were sedentary, but because of the training load, you might feel fatigued or extremely stressed while training due to an already elevated heart rate and peripheral vascular resistance. Also, your body will try and make up the fluid loss through increasing anti-duiretic activity...this will exacerbate the anemia due to phlebotomy through a dilutional effect (as the kidneys "work" faster than the marrow generating a larger stock of RBC's due to increased EPO). This is just a general compensatory mechanism to maintain homeostasis, but you might find it to be detrimental to your capacity to train (specifically your capacity to train for endurance activity). The loss of iron isn't the only thing to consider.

I'm just sort of rolling through the pathophysiological significance of your situation on endurance training. I'm not exactly certain of the clinical manifestations of hemochromatosis treatment...Just some extra things to think about and ask your physician about...



Great response...thanks a lot.  Exactly the sort of stuff I was looking for, esp. the anti-diuretic component, which isn't something that's come up in any of the standard info on treatment online...gives me good food for consideration and discussion with hematologist.

Thanks again.
2009-08-18 7:07 PM
in reply to: #2306348

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Subject: RE: Hemochromatosis, anyone?
Hey, its good that you were diagnosed early. As a man the issues associated with Hemochromatosis are more devastating, and often go unnoticed until liver issues prompt more testing. Women obviously have menstruation to ease the iron overload.

My mom was diagnosed a long time ago, had lots of sessions with the phlebotomist but only now goes in once in a while. She is almost sixty and just finished a half marathon. She runs several times a week, no problem.

I was tested, found out I am heterozygous , so I'mreally just a 'carrier'.

See you in St. George...
2009-08-21 12:48 PM
in reply to: #2356905

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Champion
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Subject: RE: Hemochromatosis, anyone?
spbdds - 2009-08-18 5:07 PM Hey, its good that you were diagnosed early. As a man the issues associated with Hemochromatosis are more devastating, and often go unnoticed until liver issues prompt more testing. Women obviously have menstruation to ease the iron overload. My mom was diagnosed a long time ago, had lots of sessions with the phlebotomist but only now goes in once in a while. She is almost sixty and just finished a half marathon. She runs several times a week, no problem. I was tested, found out I am heterozygous , so I'mreally just a 'carrier'. See you in St. George...


Thanks for this...good to hear about your mom.

My dad, unfortunately, went undiagnosed until he was 71...he was an alcoholic, so it was assumed his liver disease was due to drinking.  Once he'd been sober for five years and there were still indications of cirrhosis, they had to look deeper into the issue.  Fortunately for me, they did.  Looks like my mom must be heterozygous (as far as I know she's had no symptoms...we're pretty much estranged these days, unfortunately).

One thing I did find in my research is that a very high percentage of people homozygous for one or another of the mutations never become symptomatic and for that population, the disorder is not progressive.  The problem is that you can't really identify in advance who is never going to become symptomatic vs. those who just haven't progressed to symptoms yet.


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