What are characteristics of Shwachman-Diamond syndrome-caused aplastic anemia?

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

Shwachman-Diamond syndrome is caused by mutations in the SBDS gene and is inherited in an autosomal recessive manner. This disease is characterized by dysfunction of the exocrine pancreas with malabsorption and growth failure, as well as cytopenias of single or multiple lineage. Patients with Shwachman-Diamond syndrome also have an increased risk of MDS and AML. [35]


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