FAQFAQ   SearchSearch   MemberlistMemberlist   UsergroupsUsergroups 
 ProfileProfile   PreferencesPreferences   Log in to check your private messagesLog in to check your private messages   Log inLog in 
Forum index » Medicine forums » laboratory
Beta Thalassemia trait & H63D mutation in HFE & Hemachromotosis
Post new topic   Reply to topic Page 1 of 1 [2 Posts] View previous topic :: View next topic
Author Message
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 |
|======================================|
Back to top
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
Back to top
Google
Back to top
Display posts from previous:   
Post new topic   Reply to topic Page 1 of 1 [2 Posts] View previous topic :: View next topic
The time now is Thu Apr 26, 2018 11:21 am | All times are GMT
Forum index » Medicine forums » laboratory
Jump to:  

Similar Topics
Topic Author Forum Replies Last Post
No new posts Beta Thalassemia trait & H63D mutation in HFE & Hemachrom... George Lewycky patology 1 Fri Jul 14, 2006 2:56 am
No new posts Common beta-agonist inhalers more than double death rate ... William Wagner cardiology 2 Sat Jul 08, 2006 10:25 am
No new posts Perioperative Beta-Blocker Therapy and Mortality lipanz cardiology 0 Mon Jul 03, 2006 2:24 am
No new posts P53 regulation, function, mutation and use in therapy: a ... scimedweb@mail.com patology 0 Mon Jun 12, 2006 9:22 am
No new posts Natural Beta Blocker? Bob nutrition 10 Fri Jun 02, 2006 3:11 am

Copyright © 2004-2005 DeniX Solutions SRL
Other DeniX Solutions sites: email marketing campaigns , electronics forum, Science forum, Unix/Linux blog, Unix/Linux documentation, Unix/Linux forums


Powered by phpBB © 2001, 2005 phpBB Group

[ Time: 0.0132s ][ Queries: 16 (0.0019s) ][ GZIP on - Debug on ]