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 Wed Mar 16, 2016, 04:41 AM
Ashleigh K. Ashleigh K. is offline
Member
 
Join Date: Jan 2016
Location: Birmingham UK
Posts: 21
Lightbulb Chromosomal Abnormalities

Hi!
This can be considered a poll of sorts, but does anyone here who has AA have any chromosomal abnormalities?

My clinic letters show that I have "copy neutral loss of heterozygosity in chromosome 6p affecting the HLA region"

I don't think that chromosomal abnormalities are common in AA, but I know that trisomy 8 is common in MDS so I am very curious about this!
__________________
Diagnosed AA in 2009;treated rabbit ATG+Cyclosporin the same year, taken off Cyclosporin in 2011; Relapsed AA in 2015 and had horse ATG as of 08/02/16. Currently on 40mg of Cyclosporin. I have copy neutal loss of heterozygosity in chromosome 6p, affecting thr HLA region.
Reply With Quote
  #2  
Old Thu Mar 17, 2016, 01:06 AM
Hopeful Hopeful is offline
Member
 
Join Date: Jan 2009
Location: California, USA
Posts: 645
Hi Ashleigh,

I had to look up your chromosome abnormality, as I have never heard of one described like this before! I also have a chromosome 6 abnormality, so I was extra curious.

From what I read, you had some new SNP-arrat karyotyping done that detects the cryptic chromosome abnormalities in people that were previously thought to have "normal cytogenetics"

I found a couple of articles that may interest you. You will find that you-are-not-alone This abnormality seems to be characteristic of an immune mediated attack and may go away with remission.

Here are the articles to check out:

https://ash.confex.com/ash/2014/webp...aper75445.html

http://www.ncbi.nlm.nih.gov/pubmed/26702937

http://www.hematology.org/Thehematologist/Ask/4351.aspx
__________________
50 yo female, dx 9/08, AA/hypo-MDS, subclinical PNH, ATG/CsA 12/08, partial response. Tried slow cyclosporine taper over 4+ years. Platelets fell, so back on cyclosporine. Trisomy 6 clone in 5% of cells.
Reply With Quote
  #3  
Old Thu Mar 17, 2016, 05:48 AM
Ashleigh K. Ashleigh K. is offline
Member
 
Join Date: Jan 2016
Location: Birmingham UK
Posts: 21
Quote:
Originally Posted by Hopeful View Post
Hi Ashleigh,

I had to look up your chromosome abnormality, as I have never heard of one described like this before! I also have a chromosome 6 abnormality, so I was extra curious.

From what I read, you had some new SNP-arrat karyotyping done that detects the cryptic chromosome abnormalities in people that were previously thought to have "normal cytogenetics"

I found a couple of articles that may interest you. You will find that you-are-not-alone This abnormality seems to be characteristic of an immune mediated attack and may go away with remission.

Here are the articles to check out:

https://ash.confex.com/ash/2014/webp...aper75445.html

http://www.ncbi.nlm.nih.gov/pubmed/26702937

http://www.hematology.org/Thehematologist/Ask/4351.aspx
Thanks for the articles Hopeful! The last one was a very interesting read.
From what I can understand, the chormosomal abnormality in chromosome 6 is the body's way of "escaping" the immune attack on the bone marrow, I think
__________________
Diagnosed AA in 2009;treated rabbit ATG+Cyclosporin the same year, taken off Cyclosporin in 2011; Relapsed AA in 2015 and had horse ATG as of 08/02/16. Currently on 40mg of Cyclosporin. I have copy neutal loss of heterozygosity in chromosome 6p, affecting thr HLA region.
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
Chromosome abnormalities bailie MDS 4 Sun Sep 28, 2014 12:35 AM
Chromosomes and Revlimid Birgitta-A News and Events 2 Sun May 19, 2013 06:42 AM
Survival Birthday-22 years lindajo MDS 8 Wed Jan 23, 2013 01:25 PM
The MDS Beacon: New MDS Classification System Based On Chromosomal Abnormalities Sally C News and Events 2 Sat Apr 7, 2012 06:08 PM


All times are GMT -4. The time now is 01:31 AM.


Powered by vBulletin® Version 3.6.7
Copyright ©2000 - 2017, 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 2006-2016 Marrowforums.org