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AA Aplastic anemia

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Old Sat Jun 18, 2011, 10:08 PM
Lori. K Lori. K is offline
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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.
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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!
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Old Sun Jun 19, 2011, 08:23 PM
BerryP BerryP is offline
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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
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Old Sun Jun 19, 2011, 10:49 PM
Greg H Greg H is offline
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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
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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
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Old Mon Jun 20, 2011, 06:18 PM
Lisa V Lisa V is offline
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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.
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-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
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