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Haemochromatosis

Posted , 5 users are following.

amandabxxx
amandabxxx

Hi everyone, Im new to this so please bare with me smile

My brother has just been diagnosed with HH, both my parents carry the gene. His doctor has advised that I be checked for the faulty genes also and as we both have children our partners should also be tested. I have spoken to my own doctor who has sent me for an Iron test only and does not seem that interested. 

Im 40 years old and have suffered from depression and anxiety for over 15 years. I have been diagnosed with IBS since I was 13 as I suffer with chronic stomach aches and pains daily. I have been aneamic over the years but am more concerned that my doctor will just write me off if I do not have Iron overload. Surely he should be running the genes test so that we have an idea wether I have the genes or not. Looking at the symptons I actually think it would answer alot of questions that the doctors have always put down to IBS and stress.

Can I insist that they do a gene test? 

Thanks

2 likes, 9 replies

9 Replies

  • sheryl37154
    sheryl37154 amandabxxx

    Posted

    In Australia, you would be entitled to a gene test as you have a first degree relative that has been diagnosed with it, plus parents who carry it.  Having said that, it is not always that easy here either.  Go with the Iron Studies in any case, then insist on a genetic test.  Ask for a print out of your tests so that you can check them yourself and have something to compare with further tests.  I am pretty sure that if you have HH your transferrin saturation % will be high, even if your ferritin iron level is not.  Your IBS could be helicobactor pylori, coeliac disease, or something like that which is making your gut bleed and making you anaemic.  Anaemia is generally measured by a Haemoglobin test (red blood cells), not a ferritin iron test.

    Irish heritage people often have both coeliac and HH, and when the coeliac which makes them anaemic, and when that is brought under control, iron loading starts occurring.

    Check your results to see if your TS% is >50, and generally ferritin iron is classed as higher than normal if >150 for a woman.  I assume you are still menstruating which will keep your fe low anyway.  If your doc does not comply, can you go to your brother's doc for the test?

    Check your country's HH association, and see if they have a letter you can print off to take to your doc saying that you should be genetically tested, or failing any of the above, ask your brother's doc to write a letter to you saying you should be genetically tested, copy it and take it to your doc.

    Let us know how you go.

    PS:  I was told I had IBS for years too, only to find that I had 6 duodenal ulcers, and ultimately when they discovered that Hp existed, I was tested positive for that.  People with HH are prone to Hp as it thrives on iron.

    • amandabxxx
      amandabxxx sheryl37154

      Posted

      Thankyou for your response. I have been tested for coeliac disease and had cameras both directions. Each time they say its IBS and stress. The more I read the more I do think I may have HH. My brothers doctor would probably be happy to write to my doctor asking for the tests but hopefully I will be able to ask for these anyway. As I am mensturating still (only 2 days a month now) I dont expect much to show up on my Iron levels so would still like the gene test. Having three children I think its important to know whats around the corner and if there is a chance they too have the faulty gene? I was a bit shocked that my doctor didnt know what gene test I was talking about and asked that my brothers doctor let me know?? 

      I should know on Thursday the outcome of my blood test but as I have had many blood tests in the past think this would have come to light beore now. 

      Both my parents are carriers and my brother and I have stomach problems as did my mums father. 

      I know the NHS do advise a gene test so hopefully on Thursday I will be able to arrange it - I wil keep you updated.

      Thanks smile

    • QUICK-FIT
      QUICK-FIT amandabxxx

      Posted

      Hi Amanda, i hope your well. I was diagnosed 2 yrs ago and i have 2 younger brothers, 1 has been diagnosed as HH while my other brother Paul is in a wheelchair after breaking his neck in a car accident and as yet has still to be tested.Im sure if both your parents have the faulty gene then you will most likely have it. If you are un-happy with tour doctor,request another if possible. Although in a fairness this is not understood by a lot of doctors.The proof is in the results, and i have suffered for years with mostly Heartburn and 4 yrs ago i asked to be checked for a stomach bug called H Pylori.Turned out i was right and i had to take a triple therapy of tablets and anti-biotics. But back to the main topic,this HH is a faulty gene that makes our bodies absorb way to much iron from things we eat. Believe it or not but because i had fatigue i thought i had low iron(similar symptoms) and started taking iron tablets.So in reality i was making myself more ill. Im 41yrs old male from Glasgow and now in Dumfrieshire and so far i have had 14 pints of blood removed but after my last blood test my iron levels have not went up over the figure (50 i believe) so i have to get another blood check in 3 mths. Im still struggling but some days are better than others, i take stimulants to get me going, vitamin D, pills as i am deficient.Also got put on anti-depressants 3 mths ago as i lost my job due to this illness and being off sick so much.My parents both got checked out and my mum is clear but my dad was told he is a carrier but his iron levels are fine so he did not need any blood removed. We can thank our irish relations for this inheritance, although i didnt even know my dad`s mother was irish as she had died years ago from a brain tumour when my dad was only 13yrs old. Well i hope you get sorted soon Hun and if you do have HH, do not eat breakfast cereals as they are loaded with iron and avoid red meat and do not take iron tablets or any multi-vitamin with iron. Also do not take vitamin C supplements as this makes our bodies absorb even more iron. Remember that although microscopic,this extra iron is tiny pieces of sharp metal fragments that cut through our organs but dont panic just stick to any routine you are given to have blood removed, i was 1 pint removed every 2 weeks, but after my 5th or 6th pint i had to get signed off my work for 10wks,as i was as weak as water, i struggled to open a packet of crisps or even spark a lighter. No energy and no strengh it was terrible,worse than the feeling i used to get on a Sunday after Raving for hours on a sat night at Ayr beech lol. Take care to you and your brother and family. oh and i have 2 sons one is 17 and other is 12 but they dont require to be tested until they turn 18. Hope this has helped you and i wish you all the best Ian C
    • amandabxxx
      amandabxxx QUICK-FIT

      Posted

      Hi, thank you so much for your message. The more I look into HH the more I am worrying about my brother and my children. I am wondering if my doctor is not clued up so much about HH and is it not that common and hopefully when I speak to him on Thursday may have researched and will understand the importance on having the gene test. Even If i do not have HH at the moment, being a woman of 40 I believe my iron levels will be more normal anyway. Im just hoping that I am clear so that my children dont have to be tested. Im sorry to hear you have had such a rough time but you still have plenty of spirit (Raving.. a man after my own heart haha).. I will update on Thursday when I have my blood results (which I do expect to be normal) and to also let you know if I have convinced the doctor to get me a genetic test. I am very foreceful and wont be leaving the surgery without my genetic test form!!!

      Thanks again Ian, very lovely to hear from you x

  • amandabxxx
    amandabxxx

    Posted

    Well finally got my blood test done but the doctor is only telling me that my iron is low and abnormal. Wont give me any more detail. The TS result has not arrived back so I assume it was not done. I have managed to get a Gene Test done which I belive takes a couple of weeks to return. I think with my iron level low I must not have HH as I have been tested for Chrones and Coeliac a few times in the past as I have constant problems with my stomach and bowels. Hopefully in two weeks I will know for sure!!
    • QUICK-FIT
      QUICK-FIT amandabxxx

      Posted

      Hey Amanda hope you are well. Still Struggling a bit myself but after reading a few more stories, i realize some have it worse than me.

      Good luck to you and everyone struggling with HH from ic

    • haircrazydaisy
      haircrazydaisy amandabxxx

      Posted

      Hi Amanda,

      My older brother lives in the US and was diagnosed about 10 years ago.  At the time, my sister, mother & myself went to the doctor's in the UK and were "tested" but, like you, our doctors really weren't interested and only gave us the ordinary blood tests rather than the DNA test.  We were all told that we were fine.  The blood tests consist of a haemoglobin test to see how much iron is in the blood and liver function tests.  I think they also test vitamin B12 levels.  

      I asked to have the DNA test again last week as I have had various problems with my stomach/digestion and my brother was absolutely sure that these and other symptoms( joint pain, early menopause, swollen finger joints, constant fatigue) could be explained by Haemochromotosis.  Anyway, I was called by the doctor's and was told yesterday that I have half of the faulty gene on chromosome 6.  This means that I am a carrier.  If they hadn't done the gene test, I would still not know this as my blood levels are otherwise fine.  I think the fact that you've had anaemia and your iron levels are low, probably make the doctors think you haven't got a problem.  I have never been anaemic, despite miscarriages.  However, you have a right to have the test so do what I did and just go back and ask for it and say that it must be the DNA test.

      It amazes me how reluctant doctors in the UK are to test for this condition, especially since it can be fairly easy to control if found in time.

      Good luck! 

    • sunni13905
      sunni13905 amandabxxx

      Posted

      Ask for your Saturated Ferritin levels. normal for a woman is < 150.  i live in canada and am having the same issues with my doctor.  he didn't seem interested but after talking to others on this forum i switched doctors last week.  found out my ferritin level was 277 and has been steadly climbing since last year as far as he could see.  i had a hysterectomy 6 years ago and have been experiencing menapausal symptoms since my early 30's. (i'm almost 40)  i've learned in the short time i've been a member on here that you have  much demand to get the genetic testing done and to keep on their butts about the results.  good luck! 150. ="" i="" live="" in="" canada="" and="" am="" having="" the="" same="" issues="" with="" my="" doctor. ="" he="" didn't="" seem="" interested="" but="" after="" talking="" to="" others="" on="" this="" forum="" i="" switched="" doctors="" last="" week. ="" found="" out="" my="" ferritin="" level="" was="" 277="" and="" has="" been="" steadly="" climbing="" since="" last="" year="" as="" far="" as he="" could="" see. ="" i="" had="" a="" hysterectomy="" 6="" years="" ago="" and="" have="" been="" experiencing="" menapausal="" symptoms="" since="" my="" early="" 30's.="" (i'm almost="" 40) ="" i've="" learned="" in="" the="" short="" time="" i've="" been="" a="" member="" on="" here="" that="" you="" have ="" much="" demand="" to="" get="" the="" genetic="" testing="" done="" and to="" keep="" on="" their="" butts="" about="" the="" results. ="" good="">
  • sheryl37154
    sheryl37154 amandabxxx

    Posted

    Hey Amanda, you have left us hanging!  What was the results of your tests and how are you going?
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