A 60-year-old woman presented with 2 years of progressive transfusion-dependent anemia. CBC was as follows: Hb 10.4 g/dL (ref 12-15.5), MCV 94.8 fL (ref 81.6-98.3), RDW 17.7% (ref 11.9-15.5), WBC 4.4x109/L (ref 3.5-10.5), Plt 135x109/L (ref 150-450), reticulocytes 4% (ref 0.77-2.36). Erythropoietin was 55.9 mIU/mL (ref 2.6-18.5), and ferritin was 199 mg/L (ref 11-307). The clinician ordered a bone marrow biopsy and myeloproliferative neoplasm workup. The following calreticulin variant was identified by fragment analysis (Figure 1) and next generation sequencing (Figure 2).
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Jadee Neff, M.D., Ph.D.
Fellow, Molecular Genetic Pathology
Rong He, M.D.
Consultant, Division of Hematopathology
Assistant Professor of Laboratory Medicine and Pathology
Mayo Clinic College of Medicine and Sciences