Contributed by Alicia Hunt, MD and Grant Bullock, MD, PhD
An eighteen month old male with a past medical history significant for febrile seizure presented for a well child visit with parental complaints of fussiness and pallor. On laboratory assessment, he was found to have hemoglobin of 2.4 g/dL with MCV of 79.4 fL and reticulocyte count of 0.3%. The patient was admitted to the hospital and transfused with packed red blood cells. PCR for parvovirus was performed and was negative. One month later, a bone marrow biopsy was performed when the anemia did not resolve. Testing of exons 1-6 of the RPS19 gene associated with Diamond-Blackfan anemia did not identify any disease-associated mutations.
A peripheral blood count following the patient's first transfusion showed a marked normochromic anemia which was slightly macrocytic (Table 1). Morphologic review of the peripheral blood smear showed no specific abnormality of either the erythroid or myeloid lineages.
A bone marrow differential was performed and showed a markedly increased myeloid/erythroid ratio (Table 2).
Morphologic review of the bone marrow biopsy showed adequate cellularity for age (estimated 90%) with a marked decrease in erythropoiesis (Figures. 1-4). There was complete myeloid maturation and adequate megakaryocytes. No morphologic abnormalities were identified.
Flow cytometry was performed on the bone marrow specimen and showed no evidence of a clonal B-cell population or abnormal T-cell population. The number of hematogones was moderately increased. Cytogenetic testing demonstrated normal male bone marrow.