Possible Haemochromotosis diagnosis

Hi Katy

Having Irish descent means you have a higher chance of having haemochromatosis as there are higher concentrations of the disease in celtic ancestry.

My mother died at the age of 47 from a heart attack and her uncle died at the age of 55 from a heart attack, a very fit man who cycled everywhere.  My mother's ancestry was cornish and I believe that the cornish are of celtic ancestry.

Your ferritin level of 750 is quite high, the normal range is 50 to 300.  Most people once they are being venesected (blood taken on a weekly basis until you reach target ferritin level) will be set a target ferritin level of 50.  Mine is set at 200 as I have ferroportin disease (haemochromatosis type 4) and does not respond well to phlebotomy.  My ferritin was at 5000 when I was diagnosed and had fortnightly venesections of 350ml and not 450ml.  My hb did drop and for a while I went to three weekly.  It took three and a half years to reach 200.  I am now on maintenance phase to keep it at 200.

I can understand your worry, I felt exactly the same when I started reading up on the disease.  Once the consultant has done his tests and confirmed that you have haemochromatosis, he will start you being venesected immediately.  The consultant will also send you for an ultrasound on your abdomen, this will be to check your liver for any fibrosis (hardening of the liver due to the iron) and look at the other organs as well.

There is a website in the UK that you can look at and become a member once you have been diagnosed.  You receive a manual about haemochromatosis, a booklet to record your venecsections and a list of other members who don't mind being contacted by other members for help and support.  The website is www.haemochromatosis.org.uk    You will also receive a quarterly newsletter by email or post if you prefer.  The society also has a facebook page, my sister posts regularly on there.  I don't because I am not on facebook.  My sister has found it very useful as I have found this forum very helpful.

You are not alone, there are many of us on here offering our own stories and tips on how we manage the disease.

I hope your consultation goes well.

Best wishes

Marie

Hi Katy,

A ferritin of 750 ug/L is worrying in the sense that you want to find out what causing it to be so high and then fix whatever it is.    If the cause is haemochromatosis, then that is good news, because I wouldn’t expect a ferritin of 750 ug/L from hemochromatosis to have caused permanent damage.  Also, haemochromatosis is treatable - people who have one of the types of haemochromatosis that show up when we're adults generally do just fine with treatment to remove the extra iron, usually by bleeding.  Women with haemochromatosis generally go longer than men without developing symptoms because of our monthly periods, which help to slow down our accumulation of extra iron.

I don't know if you and I have the same type of haemochromatosis, but in terms of ferritin levels, when I was 60 years old, my ferritin was almost twice what your is - 1438 ug/L.   Since I started phlebotomy treatments, my ferritin has stady come down.  I'm not quite yet to the target of 50 ug/L but my ferritin *is* now within normal range - and my heart has been just fine throughout.  (The incredible fatigue hasn't cleared up yet, but I'm hoping that will happen when I hit target and finally get rid of all excess iron.)

I hope some of this is helpful information for you – it’s always scary in the beginning, but things should get much better once you know exactly what you’ve got and what needs to be done about it.  It sounds as though your doctors are right on top of things!

Gillian

Hello Katy,

It does sound like you could have Haemochromatosis .

I was diagnosed with it this year. I had been feeling constantly tired and run down for a couple of years. Also suffered from memory loss and bouts of depression. I knew something was wrong but couldn't put my finger on it . Luckily my GP recognised my symptoms and put me in for blood tests. My ferritin level was1421.

I was diagnosed with Haemochromatosis and have been having weekly blood letting for 10 weeks now.

My ferritin level is currently 698.

Hoping to be below 50 by Christmas.

I still feel run down and tired all the time but at least I now know what the problem is and am getting treatment.

My liver isn't great but hopefully in time will start to repair itself.

The Haemochromatosis Society has lots of advice.

Try not to get too stressed. You've recognised the problem and your iron levels are not too high. With treatment you can get it sorted and although it does mean a bit of a lifestyle change you will be fine.

Best wishes

Dillinger

All of the above, Katy.  You know, I am often pleased to hear about another diagnosis of HH because it is the ones who are not diagnosed through medical ignorance which are the worrying ones.

I talked to a lady yesterday whose 2 cousins died from undiagnosed HH causing cirrhosis of the liver - not diagnosed till autopsy.  That does a lot of good doesn't it?

After testing of her branch of the family they happily found that they were not even carriers.  Although I get suspicious because often only a ferritin iron test is done and if it is low, drs often decide that "no, no evidence of HH".  Only a genetic test can identify a carrier.

When you check out HH further, you will find that HH can cause infertility.  It would be interesting find whether that was your cause, and if, after deironing, you may find it easier to become pregnant.  It is unbelievable that you had gone into IVF without having Iron Studies done beforehand.  I just find it unbelievable that drs rarely do Iron Studies (only the good ones do).  As it is a window to a lot of health issues, everyone should have an Iron Studies test as a matter of course.

Join a Haemochromatosis Society, they are so helpful and need your support too.  Find a support group near you.  I started my own as none existed in my state.

Let us know more details (if that is ok) as we all learn from each others' experiences.  We end up knowing more about it than drs do.

Good luck.

Thank you all so much for your replies.

GillianA - Thanks for sharing your story.  It must have been quite a shock for you when you first received your diagnosis and I'm sorry you are still suffering with the fatigue.  On the plus side, it's reassuring to know that your treatment has successfully brought your ferritin levels down and there's no lasting damage.  

Dillinger - thank you aswell for sharing your story.  I have also been getting bouts of mild depression although I simply put that down to the failed IVFs. I also get this feeling which is hard to explain. Almost like a drunken feeling. I find it hard to concentrate at work and sometimes when I'm talking with people it's like they're very distant. Does that make sense? Great to hear the phlebotomy treatments are working.  I have read that the liver is excellent at repairing itself. Best of luck for achieving your target of 50 by Christmas. 

Sheryl - After reading these ladies stories aswell as other stories on the Internet, I think I have been incredibly lucky to catch it at this point.  If I hadn't experienced the miscarriages I'm not sure if my doctor would have done a full investigation or whether I would have gone to the doctors in the first place!  I m going to inform my family aswell to get tested.

In terms of the infertility link to HH, I found some material which suggests the excess iron can deposit in the ovaries and cause problems there. Also that it can lead to early menopause.  We are going to delay the IVF now till My ferritin levels are under control. I am hopeful that this was the reason for the miscarriages and we should have better luck once the excess iron is removed. I'll keep you updated.  I agree aswell it's shocking they didn't check iron levels before we started. They did other tests such as HIV, Hep C etc. My partner works in pathology and he says the cost of the test would have be negligible. 

Thank you for the suggestion on becoming a member of a Haemochromatosis society.  ive found one on the Internet so will look into joining.  

Marie - apologies I can't yet see your response as it says it's waiting to be moderated. 

Just a question for all. Can anyone give me an indication of how many venesections I would need to get my levels down and how often these are likely to be? 

Thanks 

Katy

 

Hi Katy

It took me 67 venesections to get down to a ferritin level of 184, start date 1 Aug 2011 to 5 Dec 2014, approx three and a half years.  Mine has taken longer because I cannot be bled every week.  I have had another two since then to maintain target level of 200.

I have heard of some people being bled twice a week if the ferritin is very high.

Everyone is different with regard to how quickly they get their ferritin level down, but this is a rough guide:  each venesection of 450ml of blood will remove about 200mg of iron, and this should in due course reduce the ferritin level by about 25ug/l.  So to reduce the ferritin level from 1000ug/l to 20ug/l would be likely to require about (1000-20)/25 venesections, that is about 40 venesections.  You have to remember though, you may need more because of the continued absorption of iron from food during this time.

Best wishes

Marie

Hi Marie - your response finally came through. Thank you for sharing your story.  I'm sorry to hear about your mother and uncle. My father was also very active and seemed fit and healthy.  I have read though that both parents have to at least be carriers of the gene to pass it onto their children, so I'm a bit worried about my mum now. She has just had her gallbladder removed so I'm now wondering if HH is the cause.  Although I would have expected that she had a full blood count done at some point leading upto this.  

So glad you were able to be successfully treated and now you are in maintenance. Your poor arm after all those venesections! Do the venesections make you feel ill or did you find them ok?  Thanks for the info on the venesections. It looks like it may take a while, perhaps a year for me? Do you know how long I would have to wait for an appointment with the Haemotologist?  Is this kind of referral treated more urgently or does it depend on your levels?

thanks

Katy

Marie - 6 weeks seems a long time to wait when your level was so high. I just want to start treatment as soon as possible. I'm moving house in August to another area in the north so that's going to add further complications I suspect.  

Many thanks for your support everyone. Will let you know how things progress. 

Katyx

Marie has good information.  One thing I would add, ask your dr/gp for a copy of all your blood tests so that you can keep any eye on the levels yourself.

Do you have any other symptoms which may be related to HH?  750, for a menstruating 34 year old, does seem to be a high level - don't worry now that you have been diagnosed.  Everyone is different, and the iron deposits in different places and affects different parts of the body.  My liver is good but other parts of me are not.

The quicker you start venesections the better.  So if a private haemotologist will do that, then do so.  What is your transferrin saturation %?  It is an important marker too as well as your ferritin level.