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 |
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Jennifer Oliveira, M.D. Consultant, Hematopathology Mayo Clinic Assistant Professor of Laboratory Medicine and Pathology Mayo Clinic College of Medicine |