Approach to the diagnosis of aplastic anemia
Open Access
- 22 June 2021
- journal article
- review article
- Published by American Society of Hematology in Blood Advances
- Vol. 5 (12), 2660-2671
- https://doi.org/10.1182/bloodadvances.2021004345
Abstract
Establishing a diagnosis of aplastic anemia (AA) can be challenging, but it is absolutely critical to appropriate management, especially differentiating between acquired and inherited forms of the disease. The hematology field requires updated diagnostic guidelines to ensure that appropriate clinical pathways are pursued for patients and their safety. There are increasing clinical options for patients with immunosuppressive therapy and transplant once the diagnosis is made. In a case-based format, this review emphasizes the newer data on molecular (somatic and germline) findings in AA and how they are (or are not) helpful during diagnosis. There are key details on somatic mutation profiles and stated evidence where available for prognostic and treatment indications. Germline details of newer syndromes are also outlined, which make this review modern and reflect areas of uncertainty for clinicians.This publication has 94 references indexed in Scilit:
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