ReviewBest practice & research. Clinical haematology2021
Distinguishing constitutional from acquired bone marrow failure in the hematology clinic.
Review in Best practice & research. Clinical haematology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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Who cites it
9 citing papers in PubMed.
- Atypical Presentation ofEJHaem · 2026Article
- A single-center study: three years of experience with whole-exome sequencing in diagnosing pediatric hematological disorders.Italian journal of pediatrics · 2026Article
- Article
- Machine-learning-based predictive classifier for bone marrow failure syndrome using complete blood count data.iScience · 2024Article
- When to consider inherited marrow failure syndromes in adults.Hematology. American Society of Hematology. Education Program · 2023Article
- How I diagnose myeloid neoplasms with germline predisposition.American journal of clinical pathology · 2023Article
- Clonality in immune aplastic anemia: Mechanisms of immune escape or malignant transformation.Seminars in hematology · 2022Review
- Genetics and genomics of bone marrow failure syndrome.Blood research · 2022Review
- Fanconi anemia and dyskeratosis congenita/telomere biology disorders: Two inherited bone marrow failure syndromes with genomic instability.Frontiers in oncology · 2022Review
Corrections and comments
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Authors and funding
3 authors.
Funding
Abstract
Distinguishing constitutional from immune bone marrow failure (BMF) has important clinical implications. However, the diagnosis is not always straightforward, and immune aplastic anemia, the commonest BMF, is a diagnosis of exclusion. In this review, we discuss a general approach to the evaluation of BMF, focusing on clinical presentations particular to immune and various constitutional disorders as well as the interpretation of bone marrow histology, flow cytometry, and karyotyping. Additionally, we examine the role of specialized testing in both immune and inherited BMF, and discuss genetic testing, both its role in patient evaluation and interpretation of results.
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Registered trials
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