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Hemochromatosis - What are the chances I have it?

Posted , 9 users are following.

ciarand25
ciarand25

Hello All,

I am a 25 year old Male from Ireland (both parents are Irish) and I recently attended the doctor because I found two lumps, one under each armpit (one painful,one not). I asked the doctor what this could be and she told me they were probably blocked sweat glands. She wrote a prescription for some antibiotics and that was almost that. Before I left, I also mentioned that I had been getting persistent pressure like headaches in the top right corner of my forehead. They were not severe, merely an annoyance but their persistence was what worried me.

When I told the Doctor this she said it would be best if I had blood tests done.

I had the tests done and everything came back normal apart from my Iron levels. My transferrin Saturation was at 61%. My iron level was 36.8 umol and my TIBS was at 61 aswell.

The doctor wrote on the results that a transferrin saturation above 55% was highly indicative of Heredetry Hemochromatosis (94% predictive).

I spoke with my parents and asked if there was a family history and found out that infact, my whole family have a history of low iron levels and vitamin B12 deficiency.

The same applied with my borthers and sisters (family of 5).

Shouldn't there be a history of at least one family member with high iron levels?

Is there any way that transferrin saturation levels can be raised temporarily and result is a flawed blood test?

I gave a second blood test yesterday but was told that the screening process for hemachromatosis takes 10-12 weeks.

I have read up so much about the disease in the past two days and have really worried myself so if you have any information or previous experience it would be great if you could share.

Could any of the following have affected my results:

I Binge Drink once a fortnight/month

I Smoke 10-15 a day

I Eat alot of takeaway food.

I Was taking Centrum Advance supplements sporadically in the lead up to the blood test.

This has been a wakeup call for me so I immediately quit smoking and focused on improving my diet.

Look forward to hearing from you,

Thanks,

Ciaran

1 like, 21 replies

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  • moni53170
    moni53170 ciarand25

    Posted

    Hello!  Sounds like some of you are very well-versed in this.  Trying to figure out recent blood test results - any suggestions are welcome!!  I was diagnosed with Celiac disease about 2 years ago, and have been completely gluten-free since.  I have felt GREAT since going GF, but the past 3-4 months I have felt really crummy - tired, anxious, lightheaded.  Went to my doc and have had a lot of bloodwork done to try to figure this out.  What we have found is that my overall Iron is high, Iron saturation is high (55% - normal is 15-40%), but Ferritin is within normal ranges.  Just got the genetic results back, and I have the H63D homozygous mutation.  From what I've read, this particular mutation seems to have a pretty low risk of actually leading to HH.  Any thoughts about this?  Seems  that since my ferritin is normal, there's not much to be done?  Also wondering if you think this could have anything to do with my new symptoms (fatigue/anxiety/lightheadedness).  I am otherwise very fit and healthy.  Thanks for any insights!!!
    • sheryl37154
      sheryl37154 moni53170

      Posted

      That is a conundrum!  It is my experience that Celiac and HH often occur especially among those with Irish heritage.  The Celiac masks the HH for years because it generally makes a person anaemic, then when it is brought under control, bam, the HH hits.

      You don't say what your serum iron is.  My husband is homozygote H63D, and had a ferritin level of about 557 at age 52.  About 3-4 yrs later he was diagnosed with Hodgkin's Lymphoma - no connection is proven!  Before that his venesections were becoming less often than mine.  (C282Y/C282Y).  Although there did not seem to be any evidence of the usual symptoms, that he complained of anyway.  Post HL, there is a lot, but the chemo and radiumtherapy seems to have 'cured' iron loading.

      Are you still menstruating?  That will keep your ferritin low - generally!  I would not think you would get those symptoms without storing ferritin in your organs.  If not done so before, ask for a Vit B12 (my husband was found to be extremely low) and Vit D tests.  Some people do not absorb Vit B12 from tablets - injections are required.  And Vit D3 drops work better than tabs too.  What about probiotics?  Also Helicobacter Pylori?

      And be aware that HH symptoms are so similar to menopause that they are often overlooked during the menopause phase, which is when most women start loading iron.

      Also ask for all your pituitary gland hormones to be checked.  These problems can sneak up on us.  After 6 yrs of unusual symptoms I was found to also have a pit gland tumour.  It never stops!!!

      With everything else running normal (thyroid, etc.), make sure you have Iron Studies/Panel test 6-12 monthly.

      Ask for copies of all your test results so that you can monitor them yourself (if not doing so already).

      Good luck.

       

    • moni53170
      moni53170 sheryl37154

      Posted

      HI Sheryl, 

      Thank you so much for your reply.  Yes, I have Celiac, and YES, I am VERY Irish!!  The timeline of this all does seem to make sense - I started feeling really crummy after about 18 months on the GF diet - perhaps my gut has healed and the iron is starting to build up?  I just wonder if the fatigue and lightheadedness I'm experiencing is related to the HH, or something else?  Desperate to get back to my "normal self".  I am still menstuating, and am 40 years old.  

      So from what I read, your husband is also a Homozygous H63D?  And his condition required venesections?

      My serum ferritin is 29 (norm 8-252).  Iron is 172 (norm 50-170).  Total Iron Binding Capacity is 314 (norm 250-450).  Everything else has been pretty normal too (B12, D, Magnesium, Cortisol, Thyroid  - TSH, FT3, FT4.)   The ONLY oddites are my Celiac, the high iron saturation (55%) and the Homo H63D mutation.  Just hope somewhere in here is the clue to why I feel so crummy.

      Thanks again for taking the time to read my post and share your thoughts.  It is appreciated!!!

       

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