5q deletion
Hi,
It looks as if I finally might have a diagnosis. The hematologist told me today that everything points to 5q deletion.
My problem has been that I also have telangectasia (sp) in the small bowel, so the blood results were also effected by the iron deficiency anaemia caused by that.
It's actually a good thing because I don't have any iron overload problems. I am probably getting another BMB in 4 weeks time and we are going to see what to do after that.
If I have to have MDS, it looks like I picked one of the best forms to get. I asked my doctor what my blasts were and they are good at 3%. My only concern is that I was told that because my white cells are effected that the MDS may not respond to treatment as well.
I have had anaemia for over 5 and a half years now and I've been transfusion dependent for most of that time. I think I'm doing okay.
Chirley
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Copper deficiency bone marrow failure (MDS RAEB 1), neuromyelopathy.
FISH reported normal cytogenetics but gene testing showed
Xq 8.21 mutation
Xq19.36 mutation
Xq21.40. mutation
1p36. Mutation
15q11.2 deletion
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