Possible Hemochromatosis?

[ktan49]

Hi all

Been experiencing lots of symptoms since 2018 that have got progressively worse.. did a couple of fasting iron panel tests on Thriva, first one Sept 2019 which showed high iron, ferritin and creeping tsat 47. the next one in Sept 2020 also showed high iron, 450 ferritin, tsat 52%.

Fast forward to now I feel like death warmed up. Every day is a struggle to function, brain fog, dizziness, weakness, headaches, joint pain, red palms, to name a few! I think I saw my GP in 2021 and tried explaining but got fobbed off saying because my ferritin is less than 1000 it isn't HH.

Been under investigation but Hepatologist due to constant high GGT and ferritin.. but they can't find anything wrong apart from mild siderosis and fatty liver disease from a liver biopsy in 2019.

Should I ask them if they would do a full iron panel? Or Do I go back to GP and ask if they will do it? .. kind of hoping the liver specialists will agree to do it.

does this sound like I am loading iron?

Many Thanks

[Mall]

I had similar experience with GP and had to insist on further investigation. Do you have close relatives with it, if so make sure you tell your Drs.

I was finally diagnosed when mine were around 600 and Tsat 85. Other illnesses and inflammation can cause high levels. RA and fatty liver disease to name two possibilities. Tsat Under 50 is normal for a male, 45 for premenopausal female. So your result is only just high side of normal. If this shows a much higher result then it is more likely you have it and it was after this one that I was referred to a liver consultant who did the genetic test but was thinking too about fatty liver disease as the possible cause. The cost of genetic testing has come down considerably, if tested the results take a few weeks to come through.

You can contact the Haemochromotosis society UK, If you live in Uk, there is a help line and they have a genetic testing service which is cheaper than going privately. Well worth joining. Also if positive a Facebook group, haemochromotosis family, is very supportive with lots of information.

go back to Gp and ask for further TSat blood test for haemochromotosis and perhaps also tests for inflammatory arthritis given progressive joint pain.. I also have rheumatoid arthritis which can show similar symptoms. Your blood results are fairly low in comparison to many others at diagnosis. They could be entirely down to your fatty liver disease. If you are still seeing a liver consultant you could discuss further with them the possibility of a gene test. But if you have it the sooner you know the better and a genetic blood test will give a definite answer.

All the best

[isi123]

When I was diagnosed with hemochromatosis, I had 1200 ferritin and 50% saturation. It is a mistake to diagnose the disease when liver overload is already high if it can be prevented.

Now, 470 ferritin is a slight elevation, but on the other hand the saturation indicates that something is wrong 52%. You may have to talk to your doctor to rule out that you are a carrier of any of the hemochromatosis genes. In my case I am heterozygous, I should not have developed the disease (homozygosis or double heterozygosis) but I do. I also have a fatty liver and it was one of the causes of my high GGT, sometimes both diseases go hand in hand, for example with hypercholesterolemia. They are all metabolic diseases.

[rouser]

hi ktan, I was diagnosed with hh based upon a single 'gene test' not based on ferritin level. My GP and I missed the initial diagnosis because it was pa ked into a series of tests we did. Just like you, my symptoms were growing, and, six months later my ferritin level had gone from 459 to 700! If I were in your shoes I would do as your first responder recommended and immediately contact the Hemochromotosis Society and if affordable for you have the proper gene test done. Also suggest you go donate blood to bring your down. By the way, what is your ferritin level today?

[ktan49 in reply to rouser]

So I found out today that my Nan has just been diagnosed with Hemochromatosis, would this give me grounds to request a gene test now as it’s in the family? Thanks for your reply, ferritin was at 450 last year

[rouser in reply to ktan49]

Also the Hemochromotosis Society based off your Nan, can issue you a kind of official document that authenticates your need for the gene test. It goes a long way with medical people who don't realize how serious your situation may be.

[ktan49 in reply to rouser]

Oh wow I didn't realise that, I will check that out, thank you

[rouser]

Yes, had the same line-up, it is through my paternal grand mother. Also, my brother was similarly diagnosed. If you turn out to have HH, any sibs should get checked as well. My one son 'passive' hemochromotosis which means he has one gene out of a possible two

genes. What is your current ferritin?

[rouser in reply to rouser]

What is your Nan's level?

[ktan49 in reply to rouser]

I haven't had my ferritin tested for about 1 year.. last time it was 450.. they have never measured my tsat,, i did that on private blood in 2020 and it was 52% then. I am not sure what my nans level is, I will be speaking to her again in the near future. thank you for replying

[rouser in reply to ktan49]

oh, good.

[Fedupdonna]

I’ve just been diagnosed with hemachromatosis by the nhs and my levels are not that high. Serum ferritin 391ug/L and iron saturation 55%. I start venesection next week.

[jimbobfrisbeefreak]

Have you tried donating blood? If your iron levels are high donating blood is an easy way to get the level down. My doctor recommended it to me but I don't have hemochromatosis. I don't think you do either. We have exactly the same symptoms. I've been experiencing mine since the pandemic began in 2019 and they have not gone away or been explained to me by any medical professional. I was hoping you might have found some answers after I found your original post from 4 years ago. But it seems your still having the same problems. That's too bad. If I figure anything out I'll let you know. Hope you do the same for me. Good luck