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July 2018 — Hematopathology

Here, we report a case of a 56-year-old African-American female with a reported history of “alpha thal trait” found to have severe reticulocytopenic microcytic anemia requiring transfusion support. Her Hgb/Hct were 5.5 g/dL/16.5%, respectively with an MCV of 75.6 fL and  reticulocytopenia at 0.3 with a ferritin of 2292 ng. Further investigation revealed a baseline anemia (9 g/dL) that had recently worsened. Analysis by HGB electrophoresis revealed trace Barts with no additional abnormal peaks, and MLPA analysis of the alpha globin gene cluster detected a single gene -3.7 deletion suggesting carrier status, which was discordant with the severity of her clinical picture. A bone marrow biopsy revealed the following:

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Maggie DiGuardo, M.D.
Fellow, Molecular Genetic Pathology
Mayo Clinic
Jennifer Oliveira, M.D.
Consultant, Hematopathology
Mayo Clinic
Assistant Professor of Laboratory Medicine and Pathology
Mayo Clinic College of Medicine
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This post was developed by our Education and Technical Publications Team.