Alpha-Thalassemia and aberrant loss of Alpha-1 Spectrin Expression

This is a case of a 71-year-old female with homozygous hemoglobin alpha gene (3.7) mutation who presented clinically with lethargy and pancytopenia. Further studies were conducted including a CT scan and bone marrow biopsy. The CT scan demonstrated an enlarged spleen and the H&E stained bone marrow biopsy slide showed a predominantly erythroid trilineage hematopoiesis as demonstrated in figure A (40x). Erythroid precursors and mature red blood cells are highlighted by Glycophorin A in Figure B (40X, inset 100x), while alpha-1 spectrin was essentially negative in these erythroid precursors, with rare staining of a small subset of erythrocytes (figure C, 40x, inset 100x).  The patient’s presentation and CBC work up were consistent with the typical findings in alpha thalassemia including reticulocyte and hemoglobin levels within reference range, elevated MCV’s ranging from 65-75 fL and MCH levels at approximately 22 pg. The red blood cells appear microcytic and hypochromic. Overall, this is an alpha-Thalassemia associated with aberrant loss of alpha-1 spectrin expression.