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Hematol Oncol Clin North Am. 2018 Aug;32(4):669-685. doi: 10.1016/j.hoc.2018.04.003. Epub 2018 May 28.

Evaluation and Management of Hematopoietic Failure in Dyskeratosis Congenita.

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Division of Hematology/Oncology, Harvard Medical School, Dana-Farber Boston Children's Cancer and Blood Disorders Center, Boston Children's Hospital, 1 Blackfan Circle, Karp 07214, Boston, MA 02115, USA. Electronic address:


Dyskeratosis congenita (DC) is a rare, inherited bone marrow failure (BMF) syndrome characterized by variable manifestations and ages of onset, and predisposition to cancer. DC is one of a spectrum of diseases caused by mutations in genes regulating telomere maintenance, collectively referred to as telomere biology disorders (TBDs). Hematologic disease is common in children with DC/TBD. Timely diagnosis of underlying TBD in patients with BMF affects treatment and has been facilitated by increased awareness and availability of diagnostic tests in recent years. This article summarizes the pathophysiology, evaluation, and management of hematopoietic failure in patients with DC and other TBDs.


Aplastic anemia; Bone marrow failure; Bone marrow transplantation; Dyskeratosis congenita; Telomeres


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