Hemochromatosis

am0987

Hi all,

My OB just called and informed me that myself and DH are carriers for Hereditary Hemochromatosis. He is sending me to a high risk doctor because he is not familiar enough with these circumstances to offer me any real advice or direction regarding what this means for our LO. He did, however, tell me that I should not be too concerned, but regardless he is sending me to a doctor with more knowledge about this situation.

Anyone else have personal experience in this boat before? I'm just an anxious FTM over here trying to avoid Dr. Google...

jennyleigh16

I don't have anything to offer as far as how hemochromatosis affects pregnancy, but my father has it and it hasn't been particularly disruptive to his life. Every so often he has blood work done to check his feritin (iron) levels. If they're high he makes an appointment for blood letting. It isn't used for anything, it just needs to be taken from his body so his levels even out as his body doesn't process it naturally. It's a bit of trial and error to figure out how often to get it done. When he was first diagnosed it was every 6 weeks or so, but now he can space it out to 6-10 months.
When he was diagnosed my brother and I were tested and neither of us are carriers. I don't know that being a carrier means you actually have it, or that your child will develop it. My father has the hereditary version but no one in his family ever showed any symptoms, so I'm inclined to think being carriers doesn't necessary mean anything, but that's just my opinion. For reference, my father is 62 and was only diagnosed 5 or 6 years ago. He showed no major health problems prior to that. As far as living with the actual condition goes, in my father's case it's a slight inconvenience but definitely not debilitating.  I hope some of that helps! 

am0987

I am fairly certain that as a carrier I do not have the actual condition myself, as I was told all throughout college that I was anemic. Actually they put me on iron supplements for a little while because I didn't have enough! So I know I certainly don't have excess amounts, meaning I don't actually have the condition.

I suppose if this LO has it, he wouldn't be affected as a baby, considering most cases I've read about are not detected until later in life. Its just the fact that my regular OB "doesn't know for sure" and the words "high risk doctor" are kind of scary.

Thanks for sharing your experience!

jennyleigh16

I definitely understand it being scary! And I just realized how rambly my reply was! Sorry, it made sense in my head. I guess the take away is that being a carrier doesn't necessarily mean anything so don't freak out just yet. Deep breaths and hopefully the high risk doctor has more solid information. 

nusagen

I have hemochromatosis. I was diagnosed 7 years ago when my iron came back high on a physical. It's not a big deal if it is caught and looked after with blood donations. I'm very young for it to present itself, so just make sure that as your baby grows up, they know to have their iron checked every year. My doctors and genetic counselors have told me not to put anything in our babies record that may cause their insurance to increase since it is an adult onset "disease".

Since I have increased iron I don't take typical prenatal vitamins and right now my iron is perfect.

Hope this helps! No worries, just make sure as you age to get your (and your SO's) iron checked regularly, and maybe have the genetic testing done for your baby when their much older.

mckcak23

Hey. I'm sorrybut I don't have any advice, only support regarding the condition. But I did want to let you know that I see the high risk dr due to a past history of blood clots. And it is awesome. I know the name is scary but I have to tell you how lucky I feel to see a high risk dr. It is a built in second opinion about anything in your pregnancy and you get to hear/see your baby so much more. I have gotten much more detailed ultra sounds including one at 13 weeks that was over an hour long while they looked at everything. I could just sit there and stare at the baby forever. Mostly I just wanted to say that while the name high risk can be scary it can also be really cool and supportive.

am0987

Thanks for sharing! I'm cautiously optimistic over here :-)

lcking82

If both you and your husband are carriers, then there is a 25% chance risk that your baby would have the disease, a 50% chance he/she would be a carrier, and a 25% chance that he/she would not have the gene at all. 

Even if he/she does have hemochromatosis, with monitoring, the prognosis very good with a normal expected life-span.  As others have mentioned, they would monitor your kiddo's ferritin levels to be sure that iron was not building up to a severe level.  

Best of luck with high-risk doctor; try and relax until then (easier said than done!), and blessings to you and baby!

GoBadgers

See a genetic counselor instead of a high risk doctor, I can promise you it will be more helpful. Even when there are two mutations (ie the 25% chance for each child) a person may have normal iron levels their whole life. If your child does have two mutations their primary care physician will likely monitor their iron levels through adulthood, and treat when appropriate. About 1 out of 11 Caucasians are carriers of this condition, so your situation is not rare. Go to the national society of genetic counselors website or the American board of genetic counseling website to find a genetic counselor near you.