Hi there,

I am hoping to become an egg donor, and have one condition in my
family history that might prevent me: Glanzmann's thrombasthenia. My
grandmother on my mother's side had this condition, and so I have a
50% chance of being carrier.

I am looking for more information on this disease from a potential
carrier's perspective.

Specifically:

- How common is it? Statistics on how many cases are reported per year
would be good.

- Is it related to or linked with a specific race? My grandmother was
100% Italian.

Most importantly:

What is the name of the test, or tests, that are available to
determine whether or not a person is a carrier? Please give a short
description of these tests; try to include any relevant costs that I
would incur to take them, how accurate they are, how much time they
consume, a description of the procedure used to perform the test, and
anything else you may consider useful.

What I am *not* looking for:

Information about the symptoms of the disease.
Information on treatment or cures for the disease.
Information on research being conducted into the disease.
Information on support groups for people with the disease.
Information intended for people with the disease, or for their
relatives.
~or any other similar information (you get the idea;o)

Some tips:

I tried doing some research on my own, and had a hard time finding
information for potential carriers. One thing I did discover is that
there is a similar disease in dogs, so you might try excluding the
words “dog” and “dogs” from your search. The closest thing I found to
the description of a test for carriers was this:

"Carriers of Glanzmann thrombasthenia have essentially normal platelet
function. Their platelets, however, contain only about 60% of the
normal number of GPIIb/IIIa receptors. Carrier detection is most
accurately performed by DNA analysis when the defect is known."

I would like to know more about DNA analysis and how it works…. if
this is something that is used to detect carriers. Also, I am
interesting in knowing if this type of test is feasible to do for
someone interested in egg donation.

I’ve already been to several sites, these are some of the better ones
I have found (in terms of describing the general condition), but they
do not answer my specific questions:

http://www.cafamily.org.uk/Direct/g18.html
http://health.yahoo.com/health/encyclopedia/000582/0.html
http://www.glanzmanns.org/Canadian%20GT%20Pamphlet.pdf
http://www.med.uc.edu/departme/pathdept/web/lablines/vol7i5.pdf

*********************************************************************
To sum up:

- I need to know specific details of types of tests for carriers of
Glanzmann's thrombasthenia.

- I need to know that statistics surrounding the rarity of the
disease, including any race factors.

- I need to know how realistic it is to take these tests for the
purposes of egg donation.

And, of course, any other information you can provide along these
lines would be most appreciated!
*********************************************************************

I realize this is a large request for the posted $10 fee, and I am
very happy to include a good tip if the researcher can get the
information I need. So please post any questions you may have before
submitting your answer, so that I can get the most succinct and
accurate response possible.

Thanks so much!

---

Request for Question Clarification by tar_heel_v-ga on 20 Dec 2002 09:47 PST

Hello, isognomon..

I have uncovered data regarding race and frequency, but have been
unable to find testing methods for carriers of GT.  I will continue to
search and hopefully uncover something for you.

-THV

---

Clarification of Question by isognomon-ga on 20 Dec 2002 09:51 PST

Thanks for your help, THV. Information on testing is really what I am
most interested in.

Please let me know if there is anything I can do (any additional
information I can provide) to aid you in your search.

iso

isognomon..

Unfortunately, I still cannot find testing information.  I will
continue to look, but wanted to give you what I have so far regarding
race and frequency:

"Race: Incidence of thrombasthenia is not dependent on race or
ethnicity."

"In the US: Currently, approximately 300 cases of thrombasthenia are
reported in the medical literature. Other than comments relating to
the rarity of this disorder, no frequency data were discovered in a
thorough review of the medical literature. Additionally, epidemiologic
data on patients are unreported in the literature. One case report
from a Chicago-based emergency department noted that, in 1996, 8
patients with thrombasthenia were being monitored in the entire
Chicago area."

"Internationally: International frequency data are unknown. No
increased incidence based on ethnicity is noted in the literature."
 
eMedicine Journal, June 23 2002, Volume 3, Number 6
Thrombasthenia
by Mark E Green, MD, and Lawrence S Frankel, MD
http://author.emedicine.com/PED/topic851.htm

Hopefully, either I, or another researcher, will be able to find
testing data for you.

Regards,

-THV

Thanks again THV, I really appreciate your help. I am discovering that
this is not an easy answer to find, unfortunately.

Please let me know if you can think of anything that I can add to make
the searching easier.

isognomon,

You don't say whether the egg(s) would be donated to someone inside
your family, or to a stranger. I cannot imagine that a stranger would
be willing to accept an egg with such a family history. There are just
too many things that could go wrong.

Someone inside your own family might well be willing to accept the
egg, if the sperm is going to come from a non-blood relative male. In
that case, he would need to be the one tested -- at least the first
one tested, anyway. If he's negative, then the child would most likely
not inherit the condition, although the child could very well still be
a carrier. If he's positive, then you would probably not even need to
be tested to know that using your egg would not be a wise idea.

There is something that I would strongly encourage you to consider:
should you be donating your eggs, given your family history? Bad
things might not come out in the first generation, but they might
certainly appear 2 or 3 generations down the road.

Would you really be able to donate your eggs in good conscience,
knowing that the offspring, or their descendents, will run a much
greater risk of serious problems? How would you feel if you conceived
a child with a donated egg, and it later had serious health problems,
because the donor had chosen to donate despite the fact that they had
known genetic flaws? I hope that you will spend some time in serious
thought about this issue.

Best wishes and good luck,

aceresearcher

Isognomon,

The best way to get the information you seek is to make an appointment
with your local egg donor program's genetic counselors.  An
"informational consultation" is typically free, and will let you know
ahead of time (before even proceeding with genetic testing) whether or
not you're a good candidate for the (very rigorous and uncomfortable)
process of egg donation, and what tests you can expect to undergo
beforehand.

Generally, candidates and their parents (and sometimes grandparents)
must be free of genetic disease.  Requirements vary from donor program
to donor program; some programs are more strict than others, so only
your donor program will be able to tell you for sure.

For an idea of how widely programs vary, I've included links to
requirements for several programs, as well as some general
information.

Requirements for Donors
http://www.eggdonorcenter.com/dnreq.html

Egg Donation
http://www.stronghealth.com/services/womenshealth/ivf/eggspermdonors/eggdonorinfo.cfm

Typical Egg Donor Profile
http://www.eggdonor.com/erprof.html

Egg Donation
http://www.fertilitychoice.com/fc/donors.htm

Egg Donation - The Journey Ahead
http://www.genesisivf.com/donor.htm#journey

Q & A: Typical Requirements & Screening - Egg Donation
http://www.surromomsonline.com/answers/4.11.htm

Good luck!

--Missy

Hi aceresearcher & missy,

Thanks for your input. This is the reason I am looking for the
information on testing, unless I am mistaken (and *please* let me know
if I am!) if I am not a carrier there is no risk to the child or it's
future offspring. Other than this one condition my family history is
flawless, and if I am not a carrier I don't see any problems with
donation.

I have spent many hours of research, and a great deal of thought, on
this issue. I am donating because I want to help someone... you would
be surprised at the need for egg donors here in the US. And I am
already working with an excellent clinic, but I wanted to do the
research on GT on my own first, and come to them with the information
I have gathered. They are aware that the condition is in my family.

And I appreciate your concern, but I do not do anything without
extensive research and contemplation, and I would certainly never
consider egg donation without serious consideration. I went through
months of research and soul-searching before I made this decision. So
I am already completely aware of everything involved in the process, I
really just need an answer to this last question. So any help you can
provide in this direction would really be greatly appriciated:o)

Thanks,
iso

Hi iso,

You *might* be mistaken, or you might not.  I know that at least three
of us have looked into your query, and we've come up short on
information.  Unfortunately for all of us, everything we need/want to
know isn't necessarily available online.  If you're not a medical
professional, some offline sources are closed to you as well.

In any case, the genetic counselors at your clinic are going to be far
more qualified to get the correct information for you than we are -
they'll have access to the information you need, and will be able to
tell you what to expect in the way of tests (what they're called, how
they are undertaken, how results are interpreted).  I really don't
believe we can offeryou better information than the professionals can.
 It's just not where any of us have been able to access it.

--Missy

Thanks again for your help Missy. 

I didn't realize what a difficult question this was when I asked it;
my sincerest "thank you" to all of you who have tried to help!