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Telomere dysfunction and hematologic disorders

Raquel M A Paiva1, Rodrigo T Calado1

  • 1Department of Internal Medicine, University of São Paulo at Ribeirão Preto School of Medicine, Ribeirão Preto, São Paulo, Brazil.

Progress in Molecular Biology and Translational Science
|July 5, 2014
PubMed

Aplastic anemia is a disease in which the hematopoietic stem cell fails to adequately produce peripheral blood cells, causing pancytopenia. In some cases of acquired aplastic anemia and in inherited type of aplastic anemia, dyskeratosis congenita, telomere biology gene mutations and telomere shortening are etiologic. Telomere erosion hampers the ability of hematopoietic stem and progenitor cells to adequately replicate, clinically resulting in bone marrow failure. Additionally, telomerase mutations and short telomeres are genetic risk factors for the development of some hematologic cancers, including myelodysplastic syndrome, acute myeloid leukemia, and chronic lymphocytic leukemia.

Keywords:
Aplastic anemiaBone marrow failureDyskeratosis congenitaLeukemiaMyelodysplastic syndrome

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