The diagnosis of aplastic anemia (AA) requires an empty or hypoplastic bone marrow with peripheral pancytopenia. It also requires the exclusion of other conditions associated with pancytopenia. These conditions include congenital bone marrow failure, such as Fanconi anemia (FA), and myelodysplastic syndromes (MDS).1
FA can be excluded by a chromosomal breakage test in which FA cells show excessive chromosomal breakage. Some rarer congenital bone marrow failures, which have no specific markers, may be more difficult to exclude. MDS can be ruled out by appropriate marrow cytology and histology and by cytogenetic analysis.1
For a diagnosis of AA, there must be at least two of the following:1
Treatment options include:1
The standard treatment for a newly diagnosed patient with AA is either allogeneic SCT from a human leucocyte antigen (HLA)-identical sibling donor or immunosuppressive therapy with a combination of antithymocyte globulin (ATG) and immunosuppressants. Treatment options for severe AA are shown in the Figure.1
Supportive care with red blood cell (RBC) and platelet transfusions is essential to maintain a safe blood count. Iron overload can cause significant problems in heavily transfused patients and requires treatment with iron chelation therapy. Management of infections includes the use of antibiotics, antifungal agents, and antiviral therapy.Learn more about iron overload in aplastic anemia >
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