DOI: 10.1373/clinchem.2012.187237

Summary: 

A man in his early twenties presented with hematuria and moderate pancytopenia [white blood cell count, 1.9 × 109/L (reference, 4.2 × 109/L to 9.9 × 109/L); hemoglobin, 13.3 g/dL (reference, 13.0–17.4 g/dL); platelets, 61 × 109/L (reference, 140 × 109/L to 440 × 109/L)]. The physical examination was unremarkable, as were routine laboratory tests. A bone marrow (BM)6 aspirate and biopsy demonstrated hypocellularity (20%) without dysplasia. Results for BM cytogenetics, fluorescence in situ hybridization (FISH), and a diexpoybutane test for Fanconi anemia were normal.