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<p>Acquired aplastic anemia (AA) is a rare, life-threatening bone marrow failure disorder characterized by pancytopenia and a hypocellular, fatty bone marrow. Although historically labeled idiopathic, most cases are now recognized as immune mediated, resulting from cytotoxic T-cell–driven destruction of hematopoietic stem cells. The incidence of AA shows marked geographic variation, with significantly higher rates reported from Asia and developing countries, including India. Accurate diagnosis of acquired AA is critical, as management and prognosis differ substantially from other causes of pancytopenia with hypocellular marrow. The diagnostic approach requires a careful integration of clinical history, physical examination, laboratory evaluation, and bone marrow examination, along with systematic exclusion of inherited bone marrow failure syndromes, hypoplastic myelodysplastic syndromes, drug- or toxin-related marrow suppression, infections, and autoimmune disorders. Bone marrow biopsy demonstrating markedly reduced cellularity remains central to diagnosis, while flow cytometric detection of paroxysmal nocturnal hemoglobinuria (PNH) clones, cytogenetic analysis, and selected molecular studies provide important diagnostic and prognostic information. Severity stratification using modified Camitta criteria guides therapeutic decisions. Emerging molecular techniques, next-generation sequencing and telomere length assessment, are refining diagnostic accuracy and improving risk prediction for clonal evolution. This review outlines a structured, practical approach to the diagnosis of acquired aplastic anemia for both advanced and countries with limited resource-settings like developing countries, emphasizing common pitfalls and evolving diagnostic tools.</p>

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Diagnosis of Acquired Aplastic Anemia

  • 期刊论文

  • 发表日期：

    2026年7月28日

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  • Shaikh Mohd Rizwan,
  • Chandrakala Shanmukhaiah,
  • Shreyasi Chakrabarti

摘要

Acquired aplastic anemia (AA) is a rare, life-threatening bone marrow failure disorder characterized by pancytopenia and a hypocellular, fatty bone marrow. Although historically labeled idiopathic, most cases are now recognized as immune mediated, resulting from cytotoxic T-cell–driven destruction of hematopoietic stem cells. The incidence of AA shows marked geographic variation, with significantly higher rates reported from Asia and developing countries, including India. Accurate diagnosis of acquired AA is critical, as management and prognosis differ substantially from other causes of pancytopenia with hypocellular marrow. The diagnostic approach requires a careful integration of clinical history, physical examination, laboratory evaluation, and bone marrow examination, along with systematic exclusion of inherited bone marrow failure syndromes, hypoplastic myelodysplastic syndromes, drug- or toxin-related marrow suppression, infections, and autoimmune disorders. Bone marrow biopsy demonstrating markedly reduced cellularity remains central to diagnosis, while flow cytometric detection of paroxysmal nocturnal hemoglobinuria (PNH) clones, cytogenetic analysis, and selected molecular studies provide important diagnostic and prognostic information. Severity stratification using modified Camitta criteria guides therapeutic decisions. Emerging molecular techniques, next-generation sequencing and telomere length assessment, are refining diagnostic accuracy and improving risk prediction for clonal evolution. This review outlines a structured, practical approach to the diagnosis of acquired aplastic anemia for both advanced and countries with limited resource-settings like developing countries, emphasizing common pitfalls and evolving diagnostic tools.