Distinguishing Aplastic Anemia from Hypoplastic Myelodysplastic Syndrome in Children: A Morphological and Ancillary Study
DOI:
https://doi.org/10.51985/JBUMDC2025744Keywords:
Aplastic Anemia, Bone Marrow Examination, Hypoplastic Myelodysplastic SyndromesAbstract
Objective: Distinguishing hypoplastic myelodysplastic syndrome (hMDS) from aplastic anemia (AA) in children is
challenging. This is because of their overlapping clinical and morphological features. This study aimed to identify
morphological and ancillary parameters that differentiate these two conditions.
Study Design and Setting: Cross sectional study conducted at Department of Pediatric Medicine and Oncology at Children
Hospital and Institute 0f Child Health, Multan.
Methodology: We conducted a study of 220 consecutive children (<16 years) with bone marrow failure syndromes between
10th October, 2024 and 10th October, 2025. Clinical, hematological, morphological, flow cytometric (CD34+%), and
cytogenetic data were recorded. Morphology was assessed by two independent hematologists, with discrepancies resolved
by consensus and cytogenetic correlation. The final diagnosis, based on consensus, was used as the gold standard for
diagnostic accuracy. Statistical tests included the Shapiro-Wilk test for normality, t-test, Mann-Whitney U test, ÷², Fisher’s
exact test, and binary logistic regression to identify predictors of hMDS. Diagnostic accuracy was calculated with 95%
confidence intervals.
Results: Median platelet count was significantly higher in hMDS compared to AA. The study identifies megakaryocytic
dysplasia, abnormal cytogenetics, and elevated CD34+% as critical markers differentiating hypoplastic MDS from aplastic
anaemia in children. Diagnostic accuracy was highest for abnormal cytogenetics (99.2% specificity), with CD34+ =1%
and megakaryocytic dysplasia showing strong diagnostic predictive value.
Conclusion: A combination of megakaryocytic dysplasia, abnormal cytogenetics, and elevated marrow CD34+% robustly
differentiates hMDS from AA in children. In resource-limited settings, morphology-first assessment supplemented by
targeted ancillary testing can optimize diagnosis
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Copyright (c) 2026 Zulfiqar Ali Rana, Arif Zulqarnain, M Kamran Adil, Usman Fawad, Safwan Ahmad, M Kashif (Author)
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Journal of Bahria University Medical & Dental College is an open access journal and is licensed under CC BY-NC 4.0. which permits unrestricted non commercial use, distribution and reproduction in any medium, provided the original work is properly cited. To view a copy of this license, visit https://creativecommons.org/licenses/by-nc/4.0
