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Medical Forum / General / Laboratory / July 2006

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Beta Thalassemia trait & H63D mutation in HFE & Hemachromotosis

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George Lewycky - 14 Jul 2006 04:28 GMT
Question:       After blood monitoring from my Neurologist
who prescribes Tegretol and Depakote (both need blood
levels monitored) he was concerned how/why my
hemoglobin was low yet my Iron was high.

After finding a Hematologist & Gastro and having a
slew of blood, genetic tests, a CAT scan & Liver Biopsy
this is where I stand:

1. Beta Thalassemia trait (throughout family on mother's side);
2. mild anemia;
3. positive for presence of H63D mutation in the HFE gene, negative for
C282Y mutation;
4. Hemachromotosis / HHC Chromosome 6;
5. too much Iron in my liver;
6. being transitioned to a liver-safe epilepsy
medication Keppra versus the Depakote.

My liver function tests (LFT's) improved dramatically after a
phlebetomy and/or
transitioning from the Depakote to the Keppra.....

I'm curious if there are any other cases of this combination which
baffled my doctors for a few months until the genetic test, CAT and
biospy.........

And what risks if any are there for having a family ??

Thanks in Advance

George

|======================================|
| From the mind of George Lewycky      |
|      http://georgenet.net            |
|======================================|
Marc - 14 Jul 2006 13:11 GMT
> Question:       After blood monitoring from my Neurologist
> who prescribes Tegretol and Depakote (both need blood
[quoted text clipped - 32 lines]
> |      http://georgenet.net            |
> |======================================|

You don't say whether you are homozygous for the H63D gene.

The following information is taken from an abstract of a published article
(Ruiz-Argüelles GJ, Garcés-Eisele J, Reyes-Núñez V, Sánchez-Anzaldo J,
Ruiz-Delgado GJ, Jiménez-González C, et al
Heterozygosity for the H63D mutation in the hereditary hemochromatosis (HFE)
gene may lead into severe iron overload in b-thalassemia minor: Observations
in a thalassemic kindred
Rev Invest Clin 2001; 53(2): 117-120. )

b-thalassemia (minor) by itself does not lead into iron overload; however,
when it is inherited together with a homozygous state for either the H63D or
the C282Y mutations of the hereditary hemochromatosis gene (HFE gene), iron
overload may ensue and in turn, chronic liver failure with portal
hypertension.
(A Patient) being examined was heterozygote for b-thalassemia and the H63D
mutation of the HFE gene, developed severe iron overload, however, other
family members with the same inheritance, did not.

Assuming you are heterozygous for H63D:

If you are looking at having a family, make sure that you have children with
someone who is not thalassaemic, or a carrier of either common HFE gene
mutation (H63D or C2H2Y) as compound heterozygotes (with both mutations)
still develop iron overload. This will reduce the chances of having an
affected child, to 1 in 4 of passing on thallassaemia minor, 1 in 4 of
passing on hetero HFE and 1 in 16 of passing on both (this is to each
child).

Inheritance pattern for HFE can be looked at here:

http://www.cdnhemochromatosis.ca/disorder/inheritance.php

So, in summary:

marry outside your ethnic group, but never ask for a blood test on a first
date.

Regards

Marco
George Lewycky - 30 Jul 2006 23:49 GMT
Hi Marc

thanks for you reply:

I think I'm Hetero for the H63D gene - ill check it tmrow with my
paperwork.....

I enjoyed your humour on this too

Cheers

George

> > Question:       After blood monitoring from my Neurologist
> > who prescribes Tegretol and Depakote (both need blood
[quoted text clipped - 74 lines]
>
> Marco
 
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