Hemochromatosis Question

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yuluwirri - 07 Mar 2006 05:58 GMT

I was recently tested for Hemochromatosis with the result of being
Heterozygous for the H63D mutation.

I was told that I was a carrier and did not have the disease due to
the fact that the iron studies did not support this diagnosis.

My question is this - Is it at all possible to still have
iron-overload with my particular blood results?

TIA,

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Robert - 07 Mar 2006 07:44 GMT

> x-no-archive: yes
>
[quoted text clipped - 8 lines]
>
> TIA,

By blood results do you mean genetic testing or transferrin saturation aka
TIBC?

It is rare to have hemochromatosis with a heterozygotic state although they
have been reported in the literature.

The TIBC pretty high and they have to keep an eye on it for other secondary
iron overloaded conditions and for other acquired conditions such as
hepatitis that can be more detrimental.

"7) If a patient is heterozygous or is a compound heterozygote for the
hemochromatosis gene(s), one can consider having their blood analyzed for
iron parameters now and every five or ten years, depending on whether or not
there is a significant rise in the percent saturation of the transferrin to
a level greater than 50%. If any first-degree relative refuses genetic or
HLA testing, do iron studies every three years."

http://www.cpmc.org/advanced/liver/patients/topics/hemochromatosis.html

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yuluwirri - 07 Mar 2006 08:26 GMT

>> I was recently tested for Hemochromatosis with the result of being
>> Heterozygous for the H63D mutation.
[quoted text clipped - 9 lines]
>By blood results do you mean genetic testing or transferrin saturation aka
>TIBC?

I do believe I had both. The report reads : No C282Y mutation
detected. Heterozygous for the H63D mutation. No S66C mutation
detected.

The presence of a single recognised mutation is consistent with an
asymptomatic carrier state. However iron overload may be noted if
another unrecognised mutation is present on the other chromosone.
Iron studies do not support iron overload.

The reason I ask is because I have been ill for quite some time and I
am not getting any better. It has been suggested that I may be
suffering from Chronic Fatigue Syndrome however I am not quite sure
about that diagnosis.

I was diagnosed as having Hemochromatosis when I was a teenager by
another doctor, however I did nothing about it (pure ignorance of
youth I'm afraid).

That is why I was wondering if it was at all possible for me to
actually have this disorder given the above test results. If there is
a possibility I do believe that I could ask for a new test called a
Ferris Scan. However I do not want to waste the doctor's time if this
is not possible you see.

Thank you very much for your prompt reply.

>It is rare to have hemochromatosis with a heterozygotic state although they
>have been reported in the literature.
[quoted text clipped - 11 lines]
>
> http://www.cpmc.org/advanced/liver/patients/topics/hemochromatosis.html

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