Diagnostic Approach to Persistent Pancytopenia in Adolescents

Introduction to Primary Bone Marrow Disorders

Myelodysplastic syndrome (MDS) can occur in adolescents and presents with cytopenias and anemia, according to the European Society for Medical Oncology, and must be excluded, particularly hypoplastic MDS, which can mimic aplastic anemia but shows abnormal cell morphology and potential chromosomal abnormalities 1, 2

A reticulocyte count is essential to determine if the bone marrow is responding appropriately to the anemia, with a low reticulocyte count indicating hypoproliferative anemia, consistent with marrow failure, as recommended by the International Society of Nephrology 4, 3
Peripheral blood smear examination is necessary to assess red blood cell morphology, presence of abnormal or immature cells, and platelet count and morphology, as suggested by the American Society of Hematology 4
A complete metabolic panel, including liver function tests, should be performed, as hepatomegaly and liver abnormalities can accompany certain hematologic disorders, according to the European League Against Rheumatism 5, 6

Nutritional deficiencies, such as B12, folate, or copper deficiency, would typically show macrocytic anemia with elevated reticulocyte counts if the marrow were responding appropriately, as noted by the American College of Physicians 3