What is the role of telomeres in the etiology of aplastic anemia?

Updated: Jan 29, 2021
  • Author: Sameer Bakhshi, MD; Chief Editor: Emmanuel C Besa, MD  more...
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Answer

Variations in telomere length in peripheral blood cells, especially neutrophils, have been reported in severe aplastic anemia, but the clinical significance of this finding is uncertain. A faster reduction in telomere length in aplastic anemia leads to decreased expression of cell cycle checkpoint genes such as CDK2/6 and MYC, and a high number of mutations is observed in the telomere reverse transcriptase (TERT) gene. [27, 28]

However, although telomere length was unrelated to response, it has been associated with the risk of relapse, clonal evolution, and overall survival in patients with severe aplastic anemia. [29] Studies in murine models also suggest a role of thrombopoietin (TPO) and associated signalling pathway during normal hematopoiesis. Raised levels of TPO have been observed in aplastic anemia, most likely due to compensatory response to diminished stem cells function. [30, 31] Moreover, a decrease in TPO levels is seen after immunosuppressive therapy. [32]


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