{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T17:30:34Z","timestamp":1790875834926,"version":"4.1.0"},"reference-count":54,"publisher":"American Society of Hematology","issue":"1","content-domain":{"domain":["ashpublications.org"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2017,12,8]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Patients with inherited bone marrow failure syndromes (IBMFSs) classically present with specific patterns of cytopenias along with congenital anomalies and\/or other physical features that are often recognizable early in life. However, increasing application of genomic sequencing and clinical awareness of subtle disease presentations have led to the recognition of IBMFS in pediatric and adult populations more frequently than previously realized, such as those with early onset myelodysplastic syndrome (MDS). Given the well-defined differences in clinical management needs and outcomes for aplastic anemia, acute myeloid leukemia, and MDS in patients with an IBMFS vs those occurring sporadically, as well as nonhematologic comorbidities in patients with IBMFSs, it is critical for hematologists to understand how to approach screening for the currently known IBMFSs. This review presents a practical approach for the clinical hematologist that outlines when to suspect an IBMFS and how to use various diagnostic tools, from physical examination to screening laboratory tests and genomics, for the diagnosis of the most frequent IBMFSs: Fanconi anemia, telomere biology disorders, Diamond-Blackfan anemia, GATA2 deficiency syndrome, Shwachman-Diamond syndrome, and severe congenital neutropenia.<\/jats:p>","DOI":"10.1182\/asheducation-2017.1.79","type":"journal-article","created":{"date-parts":[[2019,4,16]],"date-time":"2019-04-16T18:13:11Z","timestamp":1555438391000},"page":"79-87","update-policy":"https:\/\/doi.org\/10.1182\/blood.2019cm0000","source":"Crossref","is-referenced-by-count":36,"title":["Old and new tools in the clinical diagnosis of inherited bone marrow failure syndromes"],"prefix":"10.1182","volume":"2017","author":[{"given":"Allison H.","family":"West","sequence":"first","affiliation":[{"name":"Section of Hematology\/Oncology, The University of Chicago Comprehensive Cancer Center, Chicago, IL; and"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jane E.","family":"Churpek","sequence":"additional","affiliation":[{"name":"Section of Hematology\/Oncology, The University of Chicago Comprehensive Cancer Center, Chicago, IL; and"},{"name":"Center for Clinical Cancer Genetics, The University of Chicago, Chicago, IL"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"234","reference":[{"issue":"7","key":"2019111703341740000_B1","doi-asserted-by":"crossref","first-page":"796","DOI":"10.1038\/gim.2016.197","article-title":"Clinical utility of next-generation sequencing for inherited bone marrow failure syndromes","volume":"19","author":"Muramatsu","year":"2017","journal-title":"Genet Med"},{"issue":"9","key":"2019111703341740000_B2","doi-asserted-by":"crossref","first-page":"575","DOI":"10.1136\/jmedgenet-2015-103270","article-title":"Improving diagnostic precision, care and syndrome 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