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Anyone with TBD(?), MDS, 1P deletion, RUNX1, ASLX1 and SRSF2?
Chronic anaemia with Hb 100 to 110 for 25 years, then Hb fell off cliff edge to 65 when I was hospitalised mid June 2026. Since then, 12 units RBC transfusions in 4 months. First BMB showed blasts <2% and a 1P deletion. Consultant (Edinburgh) said NGS was only applicable to bone marrow transplants so no known gene variations at that stage. Meanwhile, my respiratory consultant was concerned about progression of interstitial lung disease (ILD) and I have had a second BMB to test for telomere biology disease (TBD). Have been waiting >6 weeks for results and no treatment for MDS until TBD has been ruled out. It is no comfort to be told that TBD is an exceedingly rare condition. It is also hereditary with genetic anticipation for our children. Relevant comments on the above would be much appreciated.
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Welcome to Connect @melchet
I have not heard of telomere biology disease. Have you had a bone marrow biopsy? I have a rare disease as well- myelofibrosis and have SRSF2 mutation along with MPL mutation.
Thanks for quick reply. These diseases are all very individual and increasingly complex as NGS and other analytical methods are developed. I have read that someone with both MDS and ILD has a 25% chance of having TBD.
To answer your question, I had two bone marrow biopsies (BMB) in less than 8 weeks!