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Beta Thalassemia trait & H63D mutation in HFE & Hemachromotosis
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George Lewycky
medicine forum beginner


Joined: 14 Jul 2006
Posts: 2

PostPosted: Fri Jul 14, 2006 3:28 am    Post subject: Beta Thalassemia trait & H63D mutation in HFE & Hemachromotosis Reply with quote
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 |
|======================================|
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Marc
medicine forum beginner


Joined: 14 Jul 2005
Posts: 6

PostPosted: Fri Jul 14, 2006 12:23 pm    Post subject: Re: Beta Thalassemia trait & H63D mutation in HFE & Hemachromotosis Reply with quote
"George Lewycky" <gelewyc@nyct.com> wrote in message
news:1152847693.586152.294170@m73g2000cwd.googlegroups.com...
Quote:
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 |
|======================================|



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
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