Genetic test positive

[rupertj]

In November 2023 my iron labs were increased.

Ferritin 117

TSAT 58

my doctor said we would retest in six month and do genetic testing but wasn’t concerned. My results just came in and it showed homogenous for H63D. I haven’t been able to speak with him yet.

I am extremely scared.

[isi123]

Hello,

You are homozygous, means you have 2 copies for H63D. You don't have alarming levels of ferritin, don't panic, 117 is within the normal range. When I was diagnosed I had 1200 ferritin.

Your doctor will surely repeat the tests to verify if ferritin continues to rise and if so, you may have to undergo some therapeutic phlebotomy in the future. But it's still early.

[JigFettler]

As above. Ferritin level is fine. Mine was 730 on Diag.

So... why did you have these tests IF your iron level is normal?

Jig

[rupertj in reply to JigFettler]

I Saw a functional medicine dr for on going joint pain , fatigue etc as my regular dr came up with nothing( never ran an iron panel) iron panel at that time showed ferritin 190 and Tsat at 36.% that was last year. The results above are from November. Had genetic test done with showed two copies of h6d3.

Awaiting an apt with hemotologist

[rupertj]

also it seems that with the particular genes I have, ferritin can be normal, even low but because saturation is high it’s s cause for concern

[isi123 in reply to rupertj]

Transferrin saturation may be a first sign. The H63D mutation in homozygous form or double heterozygous forms can give mild elevations in saturation and ferritin without reaching iron overload (theory). In women, the first symptoms can coincide with the beginning of menopause.

The genetic issue is complex and is not always fulfilled, I only have 1 gene and I totally have the disease, I possibly have some other mutation that does not correspond to type 1 hemochromatosis, very few laboratories do studies. Part of my maternal family suffers from hemochromatosis and in the case of my sister, she is now beginning to have elevated ferritin and saturation, just when she has started menopause, she is just like you waiting to repeat the tests (46 % saturation and 280 ferritin). In men the disease is much more aggressive.

But do not worry. If the disease is treated in time it does not have to cause any problems and you may never develop it.

[rupertj in reply to isi123]

I keep reading h63d syndrome. It looks as though iron loading isn’t main concern as there are a whole other host of issues related and h63d don’t usualky load

[isi123 in reply to rupertj]

In most cases, h63d carriers tend to have mild or no iron overload. This is the reason why many doctors do not take it much into consideration and focus on C282Y homozygotes. But that is not always the case and I think it is a mistake that produces many misdiagnosed cases.

It does seem that the H63D mutation makes us prone to other diseases, such as heart problems. All of this must be considered with caution.