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Clinical and Genetic Heterogeneity of Telomere Diseases

Original Publication Date: 
Monday, January 28, 2013

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 #2373
Oral and Poster Presentation

Danielle M. Townsley, MD, MSc, Bogdan Dumitriu, MD, Sachiko Kajigaya, PhD, Rodrigo T. Calado, Phillip Scheinberg, MD, and Neal S. Young, MD

In this study, Danielle Townsley carefully analyzed 114 patients referred to the Hematology Branch bone marrow failure clinic since 2003. She found that mutations in telomere genes can be found in patients even without family history and should thus be looked for in all patients. Interestingly, a telomere gene mutation may be found in patients who seem to have a primary immune defect, such as paroxysmal nocturnal hemoglobinuria (PNH) and large granular lymphocytosis (LGL). These patients may respond to immunosuppressive therapy in spite of the genetic abnormality suggesting that finding a genetic mutation should not preclude such treatment.

Reviewer Bio: 
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