International Journal of Hematology

, Volume 109, Issue 3, pp 328–335 | Cite as

Clinical features of dyskeratosis congenita in mainland China: case reports and literature review

  • Fuxing LiEmail author
  • Wei Li
  • Xiaohong Qiao
  • Xiaotian XieEmail author
Original Article


Dyskeratosis congenita (DC) is a rare-inherited bone marrow failure syndrome associated with multi-system disorder. To summarize the clinical features, epidemiology, and treatment of DC in mainland China, we retrospectively reviewed the medical records of two patients diagnosed with DC at our hospital and published reports on other DC patients in mainland China. The clinical features of 82 DC patients were summarized. The median age of onset was 5 years, but the median age at diagnosis was 16 years. Bone marrow failure occurred at a high rate of 44% and early, with a median onset age of 6 years (range 1–40 years). Only DKC1, TINF2, and TERT mutations were reported, which is a relatively simple signature. Aplastic anemia was treated mainly with low-dose androgens, glucocorticoids, or allogeneic hematopoietic stem cell transplantation, with an efficacy of 39% (14/36). In China, DC is relatively common in infants, with early age of onset but delayed diagnosis. Bone marrow failure occurred at a high rate and early. Improvement in the knowledge and awareness of DC combined with gene mutation tests will facilitate diagnosis and therapy in its early stages.


Dyskeratosis congenita Clinical feature China Aplastic anemia Bone marrow failure syndrome 



This study was funded by Advanced Suitable Technology Popularization Project of Shanghai Health System (Grant number 2013SY073).

Compliance with ethical standards

Conflict of interest

The authors declare that they have no conflict of interest.


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Copyright information

© Japanese Society of Hematology 2019

Authors and Affiliations

  1. 1.Department of Pediatrics, Tongji HospitalTongji University School of MedicineShanghaiPeople’s Republic of China

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