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Hi guys, could I get some test result advice please? 2 mutations found.

Posted , 4 users are following.

john91105
john91105

Hi guys,

I have a zillion symptoms, hair loss, sweating too much, tired despite a good nights sleep, low libido, stomach problems, anyway getting to the bottom of it is proving to be a bit of a minefield but one constant me and the doc have noticed on my tests is my iron is always too high! So I recently did that gene mutation test thingy and found I had two of them. I've booked a consultation with a haematology doc next Tues but can anyone offer any advice/opinion on my results in the mean time please? Do you think haemochromotosis is likely? Theres clearly some sort of problem with my iron! Have attached some test results.

Thanks so much.

 

2 likes, 6 replies

6 Replies

  • laura_19229
    laura_19229 john91105

    Posted

    Hi John.

    With the two mutations you have haemochromatosis. I have this type too. It's supposed to be less aggressive than two C mutations but like you I also have many symptoms. You shouldn't worry too much as your results aren't massively high so long term damage to vital organs is at a very low risk. Your saturation is high which along with high iron is the markers for this condition. Your doctor might just want to monitor you for a while and see if your iron levels go up or maybe start to take blood straight away.

    When I started all this about a year ago my ferritin was at about 600 and saturation was at 91%. After a long wait for treatment it only took about 9 weekly blood leggings to get down to a normal level. For some people it's a longer road but their levels are much higher than mine in the thousands.

    Have a look on the haemochromatosis society website or Facebook group for loads of easy to read information.

    • john91105
      john91105 laura_19229

      Posted

      Hi Laura,

      Thanks so much for the reply! Interesting stuff, glad your levels went to normal and hope you are doing well on all the other stuff! I will check them out, thank you again, I really appreciate it!

  • sheryl37154
    sheryl37154 john91105

    Posted

    Hi John, as Laura says the genetic test results indicate you have haemochromatosis. You are compound heterozygous C282Y/H63D - same as my son.

    The first Iron Studies results indicate iron overload but the third document results is normal except for the TS%.  Is that an older one?

    I am surprised you have such symptoms with a ferritin level of only 381.  It leads me to wonder whether the high TS% is causing it.  However, TS% is mathematical result of Iron divided by TIBC.

    I am homozygous C282Y and even though I have been deironed for many years and have been on a maintenance schedule of every 3 months, and my ferritin levels are in the 30s, my TS% is always high, as is my serum iron which is the iron that is coursing through my veins, I still have the same problems.

    So I don't have textbook results - which is a real mystery, as researchers have not yet addressed that.

    I have a new haemotologist now, saw him the other week, and he just says I absorb iron quite aggressively, and there does not seem to be anything to be done about it - especially as it is not recommended to reduce iron in the diet.

    Luckily you have been diagnosed early and hopefull all will go well for you.  (My dr took 9 years of severe symptoms before I was diagnosed and my levels were very high despite the fact that I was donating blood every 3-4 months without knowing I had HH.)

    Some important things to get checked, Vit B12, vit D, and your hormone levels, as HH is a hormone thief.  Your dr should do liver function tests and thyroid tests as a matter of course.

    Good luck

    • john91105
      john91105 sheryl37154

      Posted

      Hi Sheryl, thanks so much for the reply. I really appreciate it!

      The 3rd image is actually a more recent one so not sure whats going on there ha! I have a feeling something other than haemochromatosis is causing my symptoms, I've had them all since 18 but am just finally getting round to trying to sort it all out! I'm 32 now. I've just got no idea what it is, I actually went to an endo first because another common theme on my thyroid tests is my tsh is too high, it's always either 3 or 4 but he just saw the iron stuff and referred me to a haemotologist! My vit d was terrible but is good now after supplementing, b12 was also dreadful but better now after supplementing, my folate serum is still very low though! Maybe my stomach or absorbing stuff is the issue but then I absorb all the iron, I dont know! Such a mess trying to get to the bottom of this. My liver tests usually seem ok but the bilirubin looks slightly elevated and thats been the case more than once.

      I'm sorry to hear your levels are still high despite the treatment, I hope things get better for you asap!! Thank you again for the reply. wink

    • sheryl37154
      sheryl37154 john91105

      Posted

      With a high bilirubin,  I would suggest being tested for Gilbert's Syndrome. There may be other markers you have to have but it is worth checking out with your symptoms.  Often Gilbert's Syndrome and HH (for which you have the genetic markers) go hand in hand.

      If you check out the Gilbert's Syndrome on this website, you will find that drs tell their patients there are no symptoms, but you will see that the people with GS who contribute to that forum do have major problems.

      Also you do not mention what drs are saying about your high tsh results, which should be followed through with.

       

    • john91105
      john91105 sheryl37154

      Posted

      Thank you!

      The thyroid thing is weird because I took all my blood tests to the endo, TSH of between 3 and 4 on most tests and he acknowledged that was too high and at the end of that appointment suggested a possible trial of thyroid meds but we'd do another thyroid blood test and see what that said. On that one all the antibodies etc were normal they usually are but again the TSH was too high at 3.2 something so I was expecting him to say a trial of levo or something but strangely he's said the thyroid is fine and referred me to the haemotologist for the iron stuff. I'm half expecting to go to this haemotologist and have him say I need to see an endo for the thyroid stuff even though it's an endo that sent me to him! God I wish this stuff was much more simple haha.

      Thanks for all your help and suggestions again, it's massively appreciated!

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