Inherited aplastic anemia in children and adolescents
- Timothy S Olson, MD, PhD
Timothy S Olson, MD, PhD
- Assistant Professor of Pediatrics
- Comprehensive Bone Marrow Failure Center and Blood and Marrow Transplant Section
- Divisions of Pediatric Oncology and Hematology
- The Children's Hospital of Philadelphia and University of Pennsylvania
Aplastic anemia (AA) is a rare disorder characterized by pancytopenia and a hypocellular bone marrow [1-3]. AA can result from either inherited or acquired causes (table 1). The incidence is triphasic, with one peak in childhood at two to five years (due to inherited causes), and two peaks in adulthood, 20 to 25 years and the majority of patients presenting beyond 55 to 60 years of age (typically due to acquired causes) . The associated neutropenia and thrombocytopenia can lead to potentially life-threatening infections and bleeding. Chronic red cell transfusion therapy for the associated anemia can lead iron overload, which, if not treated, can lead to significant morbidity and mortality.
The majority of children (75 percent) with inherited bone marrow failure have an identifiable etiology [4-6]. The four major inherited causes for AA in children are:
●Fanconi anemia (FA)
●Dyskeratosis congenita (DC)
●Shwachman-Diamond syndrome (SDS)
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