Snapshot A 5-year-old boy with sickle cell anemia presents to the emergency room with a low-grade fever, malaise, and a rash on his cheeks. On physical exam, his cheeks have a “slapped” appearance. His blood tests show Hb of 4.0 g/dL; MCV 90 fl; and 1% reticulocyte count. A bone marrow biopsy is obtained, showing hypocellularity and increased adipose tissue. Introduction Pancytopenia caused by diminished, absent, or destructed hematopoietic stem cells With bone marrow aplasia Epidemiology No racial or gender predisposition Commonly seen in sickle cell patients who are infected with parvovirus B19 ETIOLOGY Multiple different causes radiation drugs (benzene, chloramphenicol, anti-epileptics, and alcohol) insecticides viruses (parvovirus B19, EBV, HIV, CMV, and HCV) Fanconi anemia (congenital) DNA repair defect associated with anatomical defects short stature small head thumb and upper extremity abnormalities strabismus can see cafe-au-laits as well on skin idiopathic B12 and folate deficiency PNH SLE PTU and methimazole Presentation Symptoms/physical exam insidious onset, but often initial symptoms are due to anemia or bleeding (often normocytic) anemia fatigue malaise pallor thrombocytopenia mucosal bleeding petechiae leukopenia infections STUDIES Labs anemia leukopenia thrombocytopenia ↓ reticulocyte count helps identify aplastic anemia in sickle cell patients, who usually have high baseline reticulocyte count Most accurate test bone marrow biopsy normal cell morphology hypocellular bone marrow with fatty infiltration Differential Diagnosis PNH Myelodysplastic syndrome pancytopenia increased MCV low reticulocyte count macroovalocytes pseudo-Pelger-Huet cells Infection DIAGNOSIS Diagnosis of exclusion Treatment Withdrawal causative agent if applicable Supportive therapy RBC transfusion leukoreduced platelet transfusion Curative - bone marrow transplant for healthy patients under 50 Medical therapy – immunosuppressive agents for over 50 or those with comorbidities antithymocyte globulin plus cyclosporine Medical therapy – hematopoietic growth factors G-CSF (filgastrim) GM-CSF Complications Infection Bleeding Complications of stem cell transplant graft versus host disease Prognosis 10-year survival rate immunosuppression – 68% stem cell transplant – 73%