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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 2:56 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

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ironjustice@aol.com
medicine forum Guru


Joined: 28 Apr 2005
Posts: 1522

PostPosted: Mon Jul 17, 2006 3:41 am    Post subject: Re: Beta Thalassemia trait & H63D mutation in HFE & Hemachromotosis Reply with quote

George Lewycky wrote:


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

The jury seems to be still . out ..

But it doesn't look .. good ..

Increased iron leads to increased oxidation / rust ..

<<snip>>
Oxidative stress in the male
germ line is associated with poor fertilization rates, impaired
embryonic development, high levels of abortion and increased morbidity
in the offspring, including childhood cancer.
<<snip>>

Reactive oxygen species in spermatozoa: methods for monitoring and
significance for the origins of genetic disease and infertility
Mark A Baker and R John Aitken
The ARC Centre of Excellence in Biotechnology and Development,
Reproductive Science Group, School of Environmental and Life Sciences,
University of Newcastle, Callaghan, NSW 2308, Australia

Reproductive Biology and Endocrinology 2005, 3:67
doi:10.1186/1477-7827-3-67


Published 29 November 2005


Abstract


Human spermatozoa generate low levels of reactive oxygen species in
order to stimulate key events, such as tyrosine phosphorylation,
associated with sperm capacitation. However, if the generation of these

potentially pernicious oxygen metabolites becomes elevated for any
reason, spermatozoa possess a limited capacity to protect themselves
from oxidative stress. As a consequence, exposure of human spermatozoa
to intrinsically- or extrinsically- generated reactive oxygen
intermediates can result in a state of oxidative stress characterized
by peroxidative damage to the sperm plasma membrane and DNA damage to
the mitochondrial and nuclear genomes. Oxidative stress in the male
germ line is associated with poor fertilization rates, impaired
embryonic development, high levels of abortion and increased morbidity
in the offspring, including childhood cancer. In this review, we
consider the possible origins of oxidative damage to human spermatozoa
and reflect on the important contribution such stress might make to the

origins of genetic disease in our species.


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