Haemochromatosis

[Ladystardust]

I was at the doctors last week for my annual MOT. I have pernicious anemia so they like to check my blood. My bloods all came back fine, except for my ferritin level which was 271. Last year it was 194, but they've only just noticed that. I'm to go back on Thursday for another test for haemochromatosis. The doctor is thinking genetic haemo rather than caused by anything sinister. Is there anything i should know or prepare for with this possible diagnosis?

[Porphyriamaniac]

Hi ladystardust, your ferritin level is not really that high which is good. Some peoples ferritin gets up in the thousands before they are diagnosed with HH. Organ damage and such complications usually only occur when your ferritin is up over 1000 and undiagnosed for a while, so if you do have it they will have caught it early and will get on top of it. I'm not an expert by any means but im also currently awaiting genetic testing for HH among other things(6 months wait so far and my ferritin is higher than yours by a good 200☹) so have been reading up and speaking to people who've been living with it for years/decades,as that's all I can do till my appointments finally arrive! 😊 By all accounts once you get used to the venesections it's easily managed and if they pick it up early and there's no organ damage you'll be fine and there's no reason you can't lead a normal, healthy life. You should also feel better after venesection too. Below is a link to the haemochromatosis society UK, good advice on there, diet etc. Also a link to patient.info, on the haemochromatosis forum on there, they really know their stuff and are on regular unlike the health unlocked HH forum which doesn't get much traffic. Hope my long winded reply helped some 😁 all the best to you, do let me know how you get on. xxxx

haemochromatosis.org.uk/

patient.info/forums

[Ladystardust in reply to Porphyriamaniac]

Hi Stacie33, thank you for your response. I didn't realise levels got that high pre-diagnosis. I suppose my MOTs for my PA are a good thing. I don't feel unwell, well other than the PA where i still have good and bad days, but much less of them lately.

I'm sorry to hear your wait has been so long. Have you tried approaching another doctor?

Thank you for all the information, i will get a look at that later today. I will of course let you know how i get on, the blood test is on Thursday so hopefully by next week i should know something.

[Porphyriamaniac in reply to Ladystardust]

Hi ladystardust, yes some people's are 3000+ so we are the lucky ones 😊. It can take years of weekly/twice weekly venesection to get them de-ironed, each venesection taking roughly 30-50 points off your ferritin level. Me and you, it wouldn't be so many to get ours down to maintenance level. I'm glad you're feeling mostly ok ☺ I don't know much about PA. My gp is trying to get me in with another consultant that specialises in the condition I have, apparently there just aren't enough haemotologists to go around near me and as I'm not at deaths door it's a waiting game, I do understand but it's still rubbish and a worry. Good luck with the testing, I'm curious to know how long the results take. Xxx

[ENuk]

My family have a history of Haemochromatosis and completely agree with Stacie, the Haemochromatosis society is the best place to start. They are very keen to create awareness for the condition as they believe it is under diagnosed.

Where the results for LFTs normal?

Good news is that it is easily treated once discovered so the outlook is very positive.

[Hidden]

I've never had a ferritin level in the normal range but I don't have haemochromatosis according to the test I had done which involved a analysing a blood sample. My understanding is that if you have haemochromatosis your transferrin saturation level would also usually be above the normal range and my transferrin saturation has always been normal. The highest my ferritin has been measured at is 535. That was when I was taking painkillers regularly & drinking alcohol occasionally. Ferritin can be raised due to things like inflammation in the body from the liver being inflamed but also other things like arthritis. My ferritin came down to 385 in my last blood test after not taking a painkiller for 9 months. I don't know if I'll ever have a level in the normal range but as someone else has pointed out if the level is below 1,000 it's usually not considered a serious problem. Anyone that drinks alcohol regularly would tend to have raised ferritin because alcohol inflames the liver which in turn raises ferritin.

[Porphyriamaniac in reply to Hidden]

Hi Edward, you are right about ferritin being an inflammation marker and higher in drinkers, also usually transferrin and ferritin are both raised in haemo but not in the case of Haemochromatosis type 4, otherwise known as ferroportin disease. I dont know if you are aware of it or you may even have been tested with your persistent raised ferritin? The usual blood iron panel findings for this particular type are raised ferritin but low or normal transferrin saturation. When you have genetic screening for haemo they are generally only looking for mutations in the C282Y and H63D genes as these are most common by far. From my understanding it requires further genetic testing and maybe a liver biopsy to find the more obscure mutations in other HH gene/genes such as SLC40A1, the one that causes ferroportin disease.

Below is a link with a bit of info about it, could be worth a look for you.

All the best. X

rarediseases.org/rare-disea...

[Hidden in reply to Porphyriamaniac]

Thanks for the link Stacie. After reading what was in the link I could have haemochromatosis type 4 otherwise known as ferroportin disease. My transferrin saturation if anything tends to be on the low side of normal while my ferritin refuses to come down to normal. About a year ago I started to feel sick from hepatitis & my slightly raised ALT and low platelet count are yet to normalise despite my giving up painkillers (I gave up alcohol nearly 3 years ago).

If I gave blood to lower my ferritin I could wind up anaemic because of my low transferrin saturation. If I did give blood the hospital would have to throw it out because I was infected with TB as a child and my body fought it off but traces of TB stay in your body waiting to make a comeback if your immunity level drops!

At least now that I'm aware that I may have haemochromatosis type 4 I can make sure that I don't aggravate things by drinking alcohol or taking painkillers. My ferritin level isn't far above normal and given how resilient the liver is if I do have haemochromatosis type 4 it's probably going to take a long time to wear my liver down. So far I have no fibrosis according to my FibroScan score (4.3).

One thing I'm noticing now after my bout of hepatitis is that my feeling of well-being fluctuates cyclically. I'll feel great for a few days and then poorly for a few days in the same way as I did when I had hepatitis only milder. I thought I might have intermittent NASH but according to my last ultrasound I don't have fatty liver. The hepatologist I saw couldn't work out why my liver remained mildly inflamed after living clean of painkillers for about 6 months when I saw him.

Haemochromatosis type 4 starting to catch up with me due to aging might explain what's going on but if I do have haemochromatosis type 4 it's a mild version. It's more likely to be inflammation from arthritis & regular exercising resulting in a mild increase in my ferritin level.

[Porphyriamaniac in reply to Hidden]

Well I think it is definitely worth mentioning to the hepatologist Edward, even if it is pretty rare, he should know how extensive your genetic screening was aswell. It could just be you have naturally higher than average ferritin? the lab references are just that after all. I hope you get to the bottom of things anyway, good luck to you. X