Normal genetics tests

The highest it has been was over 693and saturation 38%% in January 2018.  A year ago it was 482 and saturation 50%.  Transferrin saturation is always below 45% It was found on a routine test 5 yrs ago. Mostly saturation is be low 45% and the lowest ferritin has been was 300.  My GP did write and asked for advice and was told to get me tested and as my transferrin saturation is within normal limits no action. I do not know much about the test except it is for  HFE gene which came back normal.  I checked my online medical records and there are no details of the tests except that they are normal, no action necessary.  I think she did two tests. She told me she has done a lot of research on the subject and she does not think I have got haemo. I have also been told with haemo it keeps creeping up and up and will not fluctuates. A classic example is my ferritin went high at 714 highest it has been when I had a shoulder injury and went down to 394 when I got better.  I do agree with her but cannot explain the high ferritin I am 70 and suffers from generalised arthritis otherwise I am ok. I am not overweight or drink.  The advice from the consultant is to take no action if tests came back normal.  I cannot press for a referral if the consultant does not think it is necessary.  I am just a bit concerned whether it could damage my liver etc.  She said the high ferritin levels are normal for me.  I cannot even ask to be retested again as I do not want to seem to be a time waster.  Thanks for your advice

 

Hello Marie

Thank you for sharing your results.  I am wondering if your arthritis is the cause of your ferritin being elevated, mainly because your ferritin is not that high for your age range.  It is a pity you don't know what the result of the HFE test was.  Can you see your blood test results for liver function tests? If they are within the normal range your liver should be fine and hopefully that will put your mind at rest.

Best wishes

Marie

Liver alt were 47 and 42 only on two occasions.  It has fluctuates for past year.  GP not concerned.  I got some reassuring advice from the haemo helpline.

There are other forms of genetic haemochromatosis - types 2a & b, type 3

and type 4, and a full genetic profile - very expensive at about £800 -

would identify other potential genetic causes of iron overload, but your

bloods so far do not suggest any overload, so I'm not sure that this would

be of any benefit.  Hyperferritinaemia is not iron overload and that is

what causes organ damage.  Serum ferritin rises and falls and that is

normal.  When it remains high and is coupled with other high iron

parameters, then you need to be concerned.

I find this very.  I will ask to be retested in one year and if it does go above 1000.  I will ask for further investigations.  In the meantime I am cutting down on red meat and drink tea with my meals.  I am also taking my vit d supplement with my meals,not sure whether this will help.  Thanks a lot for your advice.

I have just been able to access the report online. Now I am concerned.  It is not at all neg as I was led to believe.  GP comments are no action within normal range. What do you think, I do not understand the report fully?

C282Y mutation not detected (normal for C282Y), H63D mutation detected in heterozygous state, (carrier of H63D), CCHD genotype alone makes diagnosis of, haemochromatosis unlikely., Strong clinical/biochemical evidence of iron, overload might be due to the presence of more, unusual forms of haemochromatosis., Please let us know if further investigations are, required

That's interesting, so you don't have C282Y mutation but heterozygous for H63D.  That means you have one copy of H63D and you need two copies to load iron.  You might be in the same position as I am.  I have one copy of H63D so I should not have been loading iron, but I was and to high levels.  The hospital I was attending at the time had no idea why my ferritin was continuing to increase, but luckily, the consultant I saw referred me to a haemochromatosis specialist in London, UK.  At first he suspected hereditary hyperferritinaemia cataract syndrome, negative for that, but then he suspected Ferroportin disease (haemachromatosis type 4 - Gillian has told you a little bit about that in her post), blood was sent off to Oxford University and his suspicions were correct.  I had type 4 and it seems that it is the mild version and not the version that follows the classic haemochromatosis.  The gene that I have inherited for Ferroportin disease needs only one copy to load iron, and that is what I have, one copy. 

My journey to diagnosis was a long one going backwards and forwards to the doctor who was trying to convince me that it was all in my mind, nothing wrong.  Unfortunately, doctors in the surgery don't really know a lot about it and even less so for Ferroportin disease.  My consultant in London told me that the gene mutation I have was discovered circa 1996, so relatively recent and it is very rare.  You may have the same thing.  You could mention to your doctor that you have done your own research and feel that you may have a different mutation that they have not tested for.  Your doctor can organise an ultrasound scan for you to check to see if there is any fibrosis on your liver.  You would know one way or the other then if there is any damage.

Keep badgering your doctor if you are not happy.  I don't know about you but I tend to get a gut feeling when something is not right.

Good luck and keep us posted.

Marie

 

I forgot to mention that Ferroportin disease presents with a low transferin saturation, so the fact that it is low is no indicator to tell if you have haemochromatosis.  Mine was circa 36% when my ferritin was at its highest.

Marie

Thanks Marie I think my GP has mislead me to say the results are neg and documented same in my files she should have told me they are abnormal. She said she has done a lot of research on this subject and she thinks my ferritin should have been much higher. She is not going to do anything.

Ferritin levels since 2013

May 2013 (374)

August 2013 (423)

July 14 (413) 45% saturation

July 15 (378)

Dec 2015 (300)

2016(714) shoulder injury highest it has been over 5 yrs since diagnosis 

2016 (394) 30% saturation

Jan 2017 (482) 50% saturation

2017 (421) 32% saturation

and Jan 2018 (693). These are my results mostly done at 6 or 12 months intervals. Do I have ground to press for more tests and investigations. Transferrin saturation normal only on one occasion it has been 50%. I suffer from arthritis in my joints but it is only my rt thumb that is affected and it is very mild  it does not bother me. I do not have any symptoms and I am 70. 

Is my GP too complacent as she did not suggest any monitoring but I told her I would like to have another blood tests for ferritin in 12 months?

Have I know Inwas a carrier I would have asked for 6 months retesting.The haematologist advice is to do nothing if it is neg but it is not. I also wonder whether I should ask her to seek advice from the haematologist again. My gut feelings is to do nothing and I should not be concerned and am worrying myself unnecessary and make myself ill. Sorry if I am boring you with the results. I do not whether I should suggest giving blood.

I am in Bucks and my bloods tests were done in Oxford as well. Did you have any symptoms when you were diagnosed and how low and high was your ferritin. I would have thought if I have haemo mine would have much higher and not fluctuating. My liver alt is the same 6 months ago it was normal at 27 now it is 46. I am keeping an eye on it as well. What treatment are you having at the moment.

Thanks a lot for your advice.

Take care

 Marie

My symptoms were a bit vague and very similar to going through the menopause which most were put down to.  I had lots of muscle weakness and general aches and pains.  It was not until I went for an MRI scan for a painful low back that showed I had iron infiltration in the bones.  I was referred to a haematologist who ran various blood tests which showed I had one copy of H63D.  I was told at the time I was a carrier and needed two copies to load iron.  I was offered a marrow biopsy to see how much iron was there, but when I found out what was involved (a needle through the hip bone) I chickened out.  As there was no need to worry, I did not have haemochromatosis (or so they thought at the time) I was discharged from the clinic.  My ferritin at that stage was circa 3000.

Two years later still with all the aches and pains and now feeling below par on most days I had a new symptom, tingling in my legs and feet.  I was referred to a neurologist who carried out a brain scan and took blood tests.   The MRI scan showed the same infiltration of iron in the bones and the blood test showed that my ferritin was now 4600.  There was no neruological reason for my symptoms so I was referred back to the haematologist.  All inflammatory and infective markers were tested, these were negative and iron saturation was test and then echocardiogram and ultrasound were arranged. My liver function tests were normal.  The ultrasound showed a possible early hepatic fibrosis in the liver.  I was also referred to a rheumatologist as I was experiencing pain in my finger and thumb joints.  I have to say that I was given every test going once I got into the system and they were very thorough.

This took a little while to do and when my blood was tested again my ferritin was 5006 and iron saturation 30%.  It was at this stage that I was referred to London as my consultant did not know why my ferritin was continuing to rise.

Once in London further tests were carried out and I had a ferriscan which measures how much iron is in the liver.  I had loaded and the result was 13.7mg/g dry weight, the normal range is 2mg/g dry weight.  I had loaded to the level at which damage to the liver occurs.  I felt no pain or soreness in that area (some people with haemochromatosis get a pain in the upper abdomen) and interestingly my liver function tests were showing normal.  I think it was all very complex and quite interesting for the health professionals as no label of haemochromatosis had been given at this point.

I also had a T2* MRI scan of my heart to check that no iron had loaded there.  I was experiencing palpitations which I found quite disconcerting (my mother died from a heart attack at the age of 47).  Fortunately, there was no loading and that was a great relief to me.

I saw a hepatologist for the iron overload in my liver and he found it quite interesting that even with the liver iron as it was, my ALT's were entirely normal.  This made me wonder whether the liver function test was that accurate as an indicator as to the health of the liver.  Copper profile and ceruloplasmin were normal.

Once diagnosis of Ferroportin disease was given then my treatment started.  Due to Ferroportin not responding well to phlebotomy (classic haemochromatosis patients are bled weekly) I was bled fortnightly with 350ml of blood being taken.  It took three and a half years to get to maintenance, in my case a ferritin level of 200.  I have been in maintenance now for a couple of years and have about three to four venesections a year.  I am a needle phobe and could not take the venesection pack that is used for blood donation so I have a small needle which I feel more comfortable with.

Lots of people say they feel much better when they are in maintenance but in my case I feel worse.  I wake up in the morning feeling like I have had a few drinks, I am more tired and my hands hurt.  The first finger joints from the tips of the fingers are knobbly and sometimes are very painful.  I still have the tingling sensation which I can describe as the buzzing you get if you were to hold an electric shaver next to your skin.  Neurological issues have been ruled out so not sure why it is happening.  A symptom I am still trying to get to the bottom of, apparently it is not a symptom of haemochromatiosis.

Sorry that my post is a long one but it gives you an example of how long these things take to get diagnosed.  If you feel that you have haemochromatosis push to get referred to a haematologist and find out once and for all if you have it.  You will always be wondering otherwise.

Best wishes

Marie