Home         Forums  

Go Back   Marrowforums > Bone Marrow Failure Diseases > AA
Register FAQ Search Today's Posts Mark Forums Read

AA Aplastic anemia

Reply
 
Thread Tools Search this Thread
  #1  
Old Sat Jun 18, 2011, 10:08 PM
Lori. K Lori. K is offline
Member
 
Join Date: May 2011
Posts: 17
Gene Testing?

I was wondering if Anyone has ever had gene testing done? I'm seeing a Bone marrow transplant Doctor at the University of florida at Shands Hospital in Gainesville.. Its a teaching and research hospital.. The doctor wants to do some gene testing on me to figure out how I got this blood disorder and why? And i was wondering if anyone on here has had that done & if your blood disorder came from a gene that was passed on when you were born, Or something that caused it like a Virus? or a certain type of medicine you were taking in the past?
I go in Aug to meet with the gene testing Doctor at Shands And i'm anxious to see what happens I hope they can come up with some answers and also my doctor wants to do some type of testing to see if I ever were to have kids someday to see if I could pass this blood disorder on.
__________________
25 yrs old, Diagnosed with Pure Red Cell Aplasia in January 1999 At age 13, Monthly blood transfusions of Red blood cells Every 4 weeks, Takes Exjade 1750 MG. Started Horse ATG 6/20/11; Taking Cyclosporine 200MG twice a Day!
Reply With Quote
  #2  
Old Sun Jun 19, 2011, 08:23 PM
BerryP BerryP is offline
Member
 
Join Date: May 2011
Location: Chester, England
Posts: 33
Smile

Quote:
Originally Posted by Lori. K View Post
I was wondering if Anyone has ever had gene testing done? I'm seeing a Bone marrow transplant Doctor at the University of florida at Shands Hospital in Gainesville.. Its a teaching and research hospital.. The doctor wants to do some gene testing on me to figure out how I got this blood disorder and why? And i was wondering if anyone on here has had that done & if your blood disorder came from a gene that was passed on when you were born, Or something that caused it like a Virus? or a certain type of medicine you were taking in the past?
I go in Aug to meet with the gene testing Doctor at Shands And i'm anxious to see what happens I hope they can come up with some answers and also my doctor wants to do some type of testing to see if I ever were to have kids someday to see if I could pass this blood disorder on.
Hi I had AA which is now Hypo MDS as I have a genetic abnormality, called Trisomy 15. My Doctor explained that this would not have been a gene I was born with and it would not be inherited by my children. It simply means that the AA/MDS has corrupted my genetic code. They called it cyto genetics. I was told they do it to "stage" your disease and also to see which gene is affected as this can affect diagnosis. They should also test you for viruses, as these can be responsible for causing blood disorders as can some medicines. Mine were done from a bone marrow biopsy. Its a good thing to get this testing done cos it can help with getting the best treatments. Good luck
Reply With Quote
  #3  
Old Sun Jun 19, 2011, 10:49 PM
Greg H Greg H is offline
Member
 
Join Date: Sep 2010
Location: North Carolina
Posts: 660
Hey Lori!

I haven't had gene testing done (other than the standard BMB cytogenetics that BerryP mentions), but I have read a bunch of scholarly articles lately about various genes and their possible relationship to bone marrow failure diseases (not to mention other cancer or cancer-like diseases).

Figuring out how various genes can predict both susceptibility to various cancers and probability of response seems to be one of the hottest areas of research.

It should prove interesting.

Good luck!

Greg
__________________
Greg, 59, dx MDS RCMD Int-1 03/10, 8+ & Dup1(q21q31). NIH Campath 11/2010. Non-responder. Tiny telomeres. TERT mutation. Danazol at NIH 12/11. TX independent 7/12. Pancreatitis 4/15. 15% blasts 4/16. DX RAEB-2. Beginning Vidaza to prep for MUD STC. Check out my blog at www.greghankins.com
Reply With Quote
  #4  
Old Mon Jun 20, 2011, 06:18 PM
Lisa V Lisa V is offline
Member
 
Join Date: Aug 2006
Location: Waimanalo, Hawaii
Posts: 401
Did the doctor say what kind of "gene testing", Lori? There are a number of different things that could be called that, including the usual cytogenetics test that Greg and Berry mentioned. Everyone gets that as part of the BMB. It's impossible to make an accurate diagnosis without it.

Additionally, some patients (particularly younger ones) may be tested for Fanconi's Anemia, in order to determine if they have a hereditary condition rather than an acquired one. FA symptoms may look like AA symptoms, but the treatment is different, so it's important to rule that out.

There are also tests for telomere length, as shortened telomeres (the end part of the chromosome) may also be hereditary, and may be a predictor of premature aging, as well as how well certain treatment options are likely to work. This is not a common test, at least not yet. I think the NIH is doing it, but I'm not sure if too many other medical centers are.

Then of course there is the DNA testing that must be done to determine whether or not you have a potential marrow donor. Anyone considering the possibility of a transplant has to have this done, and some doctors will order it as a matter of course.

There are probably others that I forgot, but these are some of the possibilities that come to mind.
__________________
-Lisa, husband Ken age 60 dx SAA 7/04, dx hypo MDS 1/06 w/finding of trisomy 8; 2 ATGs, partial remission, still using cyclosporine
Reply With Quote
Reply


Thread Tools Search this Thread
Search this Thread:

Advanced Search

Posting Rules
You may not post new threads
You may not post replies
You may not post attachments
You may not edit your posts

vB code is On
Smilies are On
[IMG] code is On
HTML code is Off
Forum Jump

Similar Threads
Thread Thread Starter Forum Replies Last Post
RUNX1 gene lacanada1 MDS 3 Wed Nov 15, 2017 04:16 AM
ASXL1 and TET2 Gene Mutuations majorindy MDS 6 Tue Aug 29, 2017 03:17 PM
Myeloid Gene Panel? Bossywife MDS 7 Sun Mar 5, 2017 06:29 PM
Gene Identified for Short Telomeres in association with Aplastic Anemia curlygirl AA 8 Wed Oct 1, 2014 08:25 PM
Gene Sequencing - Great NYTimes Article Greg H Drugs and Drug Treatments 4 Sat Jul 14, 2012 07:27 PM


All times are GMT -4. The time now is 10:17 AM.


Powered by vBulletin® Version 3.6.7
Copyright ©2000 - 2024, Jelsoft Enterprises Ltd.
Forum sites may contain non-authoritative and unverified information.
Medical decisions should be made in consultation with qualified medical professionals.
Site contents exclusive of member posts Copyright © 2006-2020 Marrowforums.org