Note: This review is based upon two presentations at the 2012 American Society of Hematology (ASH) Annual Meeting, December 7-10 in Atlanta, Georgia. The full abstracts may be viewed on the ASH Annual Meeting Web site. Search by entering the title in the search box. The abstract number is referenced to access the full report.
Mutations in genes that are key to the telomerase complex can lead to a variety of disorders, including bone marrow failure and liver and lung fibrosis. The lab led by Neal Young at the NHLBI presented two studies at the 2012 American Society of Hematology Meeting in Atlanta delineating the heterogeneity of bone marrow failure syndromes associated with telomere abnormalities and the role of telomere abnormalities in aplastic anemia.
Abstract Number #1265
Oral and Poster Presentation
Bogdan Dumitriu, MD, Yasutaka Ueda, MD, PhD, Sachiko Kajigaya, PhD, Danielle M. Townsley, MD, MSc, and Neal S. Young, MD
In a second presentation, Bogdan Dumitriu analyzed whether careful assessment of telomere length could predict progression of severe aplastic anemia (SAA) to Myelodysplasia (MDS). They used a very sensitive technique called STELA (single telomere length assay) to assess telomere length in serial samples from SAA patients who have progressed to MDS. Intriguingly, telomere length was drastically shorter in samples taken prior to obvious progression to MDS. This now opens up several opportunities: all SAA patients should be tested for telomere length by STELA and if very short telomeres are identified, such measure as identifying a stem cell donor could be pursued in preparation for the likely event that this patient progresses to MDS in the near future. In addition, treatments that prevent shortening of telomeres may be tried in order to prevent malignant transformation and progression to MDS.