Diagnosis of Acquired Aplastic Anemiaa

Aplastic anemia (AA) is a rare, severe, nonmalignant disease. The diagnosis is difficult since there is no disease-specific marker and the lack of hematopoietic cells. Because of the immediate risk of disease complications, such as infections and bleedings, the diagnosis has to be done quickly and accurately. Rigorous, stepwise diagnostic phases should be followed to confirm, characterize, and classify the disease and its severity. Blood count and bone marrow investigation are the basis of the diagnosis. However, additional investigations are increasingly needed, such as flow-cytometry, genetic, and molecular genetics. The most difficult task in adult patients is the distinction between AA and hypoplastic myelodysplastic syndromes, and in children and younger adults, the recognition of hereditary forms of marrow failure syndromes.