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Vitamin B9 deficiency
16%
9/56
Vitamin B12 deficiency
4%
2/56
Iron deficiency
0%
0/56
Sickle cell anemia
11%
6/56
Myelodysplasia
64%
36/56
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This patient is presenting with a macrocytic anemia in the setting of a normal B12 level and a Pelger-Huet cell seen on peripheral blood smear, suggesting a diagnosis of myelodysplasia. Myelodysplasia presents with a macrocytic anemia, low reticulocyte count, and pancytopenia. The Pelger-Huet cell (a hyposegmented or bilobed neutrophil) is a specific finding for this diagnosis. The differential diagnosis should include vitamin B12 deficiency which can be ruled out with a normal vitamin B12 level. The treatment is transfusions as needed and in some cases chemotherapeutic drugs (lenalidomide and azacitidine). Figure A is an image of a Pelger-Huet cell. Note the bilobed nucleus of the neutrophil (also referred to as hyposegmented). Incorrect Answers: Answer 1: Vitamin B9 (folate) deficiency presents with a megaloblastic anemia and hypersegmented neutrophils. The Pelger-Huet cell in this patient suggests an alternative diagnosis. Answer 2: Vitamin B12 deficiency presents with a megaloblastic anemia and peripheral neuropathy. This patient's normal vitamin B12 level rules out this diagnosis. Answer 3: Iron deficiency presents with a microcytic anemia and hypopigmented/hypochromatic red blood cells. Answer 4: Sickle cell anemia can present with a microcytic anemia. During a crisis, sickle cell disease can demonstrate sickled red blood cells. Bullet Summary: Myelodysplasia presents with a macrocytic anemia, pancytopenia, low reticulocyte count, Pelger-Huet cells, and a normal vitamin B12 level.
4.5
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