Language
English
Publication Date
3-1-2026
Journal
British Journal of Haematology
DOI
10.1111/bjh.70155
PMID
40988089
PMCID
PMC12952280
PubMedCentral® Posted Date
9-23-2025
PubMedCentral® Full Text Version
Post-print
Abstract
Identifying telomere biology disorders (TBDs) in patients with aplastic anaemia (AA) is essential for guiding appropriate care. Telomere length (TL) measurement by flow cytometry with fluorescence in situ hybridization supports diagnosis, but the real-world performance of the basic test (lymphocytes and granulocytes) versus the detailed test (which includes four lymphocyte subsets) remains unclear. We retrospectively reviewed 439 patients who underwent detailed TL testing at our institution from 2008 to 2022. Haematological disease was present in 87%, with AA comprising 56%. We classified 23 subjects with TBD independently of TL, only one of whom had severe AA (SAA) at initial presentation. Granulocyte numbers were insufficient for TL analysis in 28% of subjects, precluding a rigorous assessment of the impact of granulocyte TL on identification of TBD. Very low TL in lymphocytes or ≥3 lymphocyte subsets identified all TBD cases across AA severity. However, positive predictive value (PPV) was low, particularly in SAA. The detailed test had greater specificity and PPV, particularly in mild AA, which had the greatest proportion of TBD cases among those with AA, supporting its use. However, additional diagnostics, such as genetic testing, remain necessary in many cases to confirm TBD and avoid misclassification.
Keywords
Humans, Anemia, Aplastic, Female, Male, Adult, Adolescent, In Situ Hybridization, Fluorescence, Retrospective Studies, Child, Flow Cytometry, Young Adult, Child, Preschool, Telomere, Granulocytes, Telomere Homeostasis, Lymphocytes, aplastic anaemia, bone marrow failure, flow cytometry coupled with fluorescence in situ hybridization, Flow‐FISH, telomere biology disorder, telomere length
Published Open-Access
yes
Recommended Citation
DeCleene, Nicholas F; Nguyen, Duc T; Kirk, Susan E; et al., "The Diagnostic Performance of the Basic Versus the Detailed Telomere Flow Fish Test in Young Patients With Aplastic Anaemia" (2026). Faculty, Staff and Students Publications. 7980.
https://digitalcommons.library.tmc.edu/baylor_docs/7980