| Diagnosis: Beta-thalassemia minor (during pregnancy)
This patient is a young woman with a history of mild anemia which has become worse since
becoming pregnant. Her current CBC shows a moderate anemia and microcytosis with an
increased RDW. The differential diagnosis for microcytic anemia is lengthy, including
abnormal iron metabolism (iron deficiency, anemia of chronic disease, sideroblastic
anemia, lead poisoning, defects of heme or porphoryin synthesis), thalassemia, and some
hemoglobinopathies (hemoglobin C or E, but not S).
Her reticulocyte count is markedly elevated, but her corrected reticulocyte count is
closer to normal (3.1%). Her RPI is less than 2, suggesting difficulty producing new
blood cells. The patient’s ESR is slightly elevated and she has a normal ferritin, B12,
folate and free T4.
Examining her peripheral smear, we see some microcytosis (compared to the adjacent
lymphocyte), occasional target cells and conspicuous reticulocytes.
Hemoglobin electrophoresis and HPLC demonstrate a decreased amount of hemoglobin A and a
mild to moderated increase in the amount of hemoglobin A2 and F.
Together these finding are most consistent with beta-thalassemia minor. However, it should
be noted that her elevated RDW and the severity of her anemia is not typical for
beta-thalassemia minor. Both can probably be attributed to her pregnancy. Effects which
can be seen in pregnancy include a slight increase in MCV, percent hemoglobin F, reticulocyte
percentage, and/or RDW as well as a slight decrease (dilutional) in RBC, hemoglobin and/or
hematocrit.
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