Posted , 4 users are following.
Hi All, i have homozygous haemachromotosis so i made both my brothers go for the gene test. One brother is also homozygous but his ferretin is about 750 with normal iron and normal saturation. how is this possible? Has anyone else experienced this?
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outremer84 Cebby78
Posted
I've tried to "strongly encourage" my brothers to get tested so many times that i'm tired of bringing it up now (and won't anymore).
Yes, my transferrin saturation would fluctuate massively. When it was first taken it barely met the criteria to go for genetic testing (52%) and a two months later just before my first phlebotomy had jumped up to 85% (with both serum iron and TIBC within normal levels!).
Serum iron is incredibly toxic at high levels so one's body tends to store it ferritin or the liver or other soft tissues. I think high serum iron is more related to iron poisoning (overdoing supplements) and isnt typically high in hereditary hemochromatosis.
But these are the hurdles someone has to jump for an initial diagnosis, it's different for your brother who could skip to genetics presumably because of your own diagnosis? Please tell me they're not waiting for his TS to get higher before leeching him?!
The best analogy I heard went like this:
Liver - money you have in the bank.
Ferritin - Money in your wallet.
TS - Can you carry more money? Are you at your max?
Serum iron - Loose change in your pocket.
sheryl37154 Cebby78
Posted
The answer could depend on what HFE type haemochromatosis he has, i.e. is it H63D or C282Y or compound of both?
H63D load iron much more slower than C282Y. Even with C282Y, not everyone loads iron, although I suspect that 'when the winds change', e.g. things change within their metabolism, they eventually will.
A high ferritin can be caused by inflammation, infection, fatty liver, a cold at the time the blood is drawn, high consumption of alcohol, etc, whether you have genetic haemochromatosis or not.
Outremer84 - Genetic haemochromatosis does present high serum iron. It does not mean that iron supplements are involved at all. When not diagnosed early, most GHers have high serum iron, and with C282Y, it generally continues above reference range, as well as high TS% and high ferritin - unless, it is genetically diagnosed early (young) as a result of a relative having it, or they are one of those who do not load iron even though they are homozygous. (I am yet to meet one of those people).
With GH, a high ferritin starts with a high serum iron. In people with GH, a protein in the liver called hepcidin does not turn on to turn off absorption of excess iron.
It will be interesting to hear your responses.
Cebby78 sheryl37154
Posted
HI Sheryl, my brother is homozygous C282y like me . His Doc said he doesnt need to do anything. This concerns me.
sheryl37154 Cebby78
Edited
It sounds like your brother is one of those with homozygous C282Y who is not loading iron. However, his ferritin is high and probably caused by any of the issues mentioned in my previous post.
His dr should be investigating this. There may be a bit of assertion required.
In the meantime, it won't hurt your brother to donate blood at a Red Cross centre. But tell him not to mention Haemochromatosis or high ferritin or they will refuse to take his blood. His blood is not harmful in any way, but that is their procedures and they stick to them.