i have just had the results of a genetic test for hemo and have been told i have the his63asp variant which shouldn’t give you iron overload.
my ferritin however is 650 up from 430 last month and my saturation level was 68 last time measure but that was redone yesterday awaiting results .
does anyone else have this variant and have iron overload problems apparently it is unusual to have the iron overload with it
thanks in advance
alfiepdoodle,
Welcome to our forum,
Even without the result reference ranges those numbers are indicating iron overload.
It doesn't matter what variant you have or don't have, if you have iron overload it needs to be reduced with venesection treatment. Too much iron becomes 'free' and so toxic to the body and risks settling in the organs.
I don't know which variant you refer to and there are many still undiscovered so perhaps you have more than one.
thank you it’s one of the number one sub sections i believe waiting to see what treatment they offer , can you have more than one type ?
alfiepdoodle,
Yes, there's genetic forms usually where the HFE gene that stops us absorption too much iron is impaired, juvenile onset and other caused by other illness, disease, etc or variants effecting other such as ferroportin disease.
thank you
Hello alfiepdoodle,
I am heterozygous for h63D and have hemochromatosis. In theory I should just be a carrier of the disease, but here I am. Three more people in my family with the same mutation have iron overload.
how long ago were you diagnosed are you on any treatment ? are you figures very high for ferritin and saturation
Diagnosed in 2014/2015. Ferritin 1200 and 50% transferrin saturation and MRI test to determine liver iron overload (mild-moderate).
About 8 months of phlebotomy to reach the goal of ferritin <100. Now 2 or 3 phlebotomies a year, the last one in February. Ferritin 24 and 31% Saturation.
Follow-up with the hematologist and hepatologist, because a very prolonged overload causes liver damage and it is my case.
great to hear your back in normal levels my ferritin only 650 but went up 200 last month and saturation 68 waiting to hear whether need to wait to get to 1000 before they will give me any treatment .all seems very frightening at the moment think i’m over googling 😱
Many peoples targets used to be ferritin 50 + TS 50, but now with resources used up by COVID, we are being left longer. My target is now 100/50.
If you are in the UK you should receive several treatments in succession starting fairly quickly to reduce high to more manageable levels.
i hope so but also i’m uk covid now means long waits for treatments some times as they try to clear backlogs
You have 600 ferritin and have not had high levels for a long period of time (years). You are at the right time to treat the disease.
that’s good to know
Hi - I've just found out I an positive for the heterozygous H63D gene - I have 54% iron saturation. I have terrible aches and pains and feel tired more than I should - what where your symtoms? What treatment are you on?
hi i was tired all the time .
I am currently on weekly venesections of 500 ml to bring my ferritin down below either 50/100 consultant hasn’t advised yet seeing him again next wednesday .
i had a liver fibroscan and liver biopsy for diagnosis after my genetic blood test( i couldn’t have the normal mri as to claustrophobic)
If your on facebook please join haemochromatosis family group such a helpful supportive group with really useful info .
cutting down on red meat is ok but won’t make much difference you need to eat 75 steaks to takeaway same iron as one venesection .
Please don’t cut out green vegetables they contain a different sort of iron (there is ferrous and non ferrous) and this iron we need to keep healthy but we won’t overload on ,same with nuts and many other foods supposedly high in iron.
Need to avoid orange juice put oranges ok to eat and any vitamin c supplements and good idea to cut down on alcohol as that puts strain on your liver .
bringing coffee is good around a meal time as it inhibits iron absorbsion
I know very little about this subject except that I am a carrier and therefore I do not have Haemochromatosis. Because only one of my parents had this . My score at one time was 667. At that time classed as very high. But possibly not now. 1,000 seems to be the new very high. But with me cutting out dark green vegetables and a lot of-cattle meat I’ve managed to bring it down to about 470. Although there is more to this to take into account. I’ve also learned recently online that eating oranges 🍊 or drinking orange juice encourages more ferritin storage. But drinking coffee either side of 2 hours of eating an iron rich food will decrease the amount of iron getting into the system. After reading this I gave up oranges in Jan. I am a carrier of the p.(Cys282Tyr) variant in the HFE gene.
Having read your post, how did you manage to get genetic testing done please? I ask because many years ago my brother was diagnosed with Haemochromatosis and at the time his consultant said that our mother was a carrier and I am probably also a carrier. The consultant said to ask my GP for genetic testing as it could be passed onto my now adult son. When I asked my GP he refused point blank and said that my son should mention it to his GP who will flag his records in case he develops symptoms. Luckily no symptoms as yet but he was told they wouldn't show until his 40's.
my doctor just organised it once he saw my ferritin and saturation levels my daughter had now also been tested luckily she is just a carrier .
Ahh. Thank you. Best wishes.
good luck if your levels are high i can’t see how they won’t test you
Possible HH and panicking a bit about damage to joints and other organs
Haematomchrosis update
One faulty gene
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