Chromosomal Abnormalities

[Ashleigh K.]

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!

[Hopeful]

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

[Ashleigh K.]

Originally Posted by Hopeful

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

[Sarah W]

Ashleigh, I don't know if you're still around here, but just wanted to reply that I also have trisomy 8. I definitely have PNH for sure, but was just diagnosed last month before the results of my bone marrow biopsy came back. With my biopsy there ARE some signs of AA, but at worst its moderate AA. Not sure if my hematologist will also add moderate AA to my diagnosis. We'll see after my next appointment. My hematologist is not an expert in AA/PNH, but he saw a few bone marrow failure patients when he lived in a different state.