ABSTRACT: A 19-year-old female patient who came to Greece from Syria was admitted to Outpatient Clinic of our Department because of anemia. The family history was unremarkable and the patient was unaware of any case of blood disease among his family members. She had one child (boy) who was healthy with no anemia documented in his medical record.Physical examination revealed no characteristic abnormalities except of pallor. Neurology and ophthalmoscopic examination was normal. Her hematology profile was as follows: Hb 9.9 g/dL, Ht 31.5%, MCV 105 fL, reticulocytes counts 1.5%, white blood cell counts 6.7x109/L with normal differentiation counts and platelet counts 188x109/L. The peripheral blood film revealed marked anisopoikilocytosis, macrocytosis, hypochromia, and basophilic stippling of red blood cells.The serum basic biochemistry including bilirubin, total protein, liver enzymes and renal function tests were normal. However, lactate dehydrogenase was slightly increased (320 UI/L; upper normal limit 240 UI/L), serum erythropoietin was elevated (66.8 mIU/mL; upper normal limit 20 mIU/mL), and serum haptoglobin level was low (1.2 mg/dl). Serum levels of iron, ferritin, transferrin, folic acid, and B12 were within normal range. Hemoglobin electrophoresis, Coombs’ test, Ham and sucrose lysis tests, G6PD levels and osmotic fragility of the red cells were also normal. Serum soluble transferrin receptor level was increased (34.5 nM; upper normal limit in our laboratory was 18 nM). Furthermore, the red cells were not agglutinated by anti-i serum. No abnormalities were observed in the electrocardiogram and the thorax X-rays. The abdominal ultrasound revealed only cholelythiasis. The bone marrow aspiration revealed a severe erythroid hyperplasia with the presence of giant multinucleated erythroblasts with up to 8 nuclei/cell and a low number (~3%) of ringed sideroblasts (Figures 1-3). Some erythroblasts showed also megaloblastoid changes, basophilic stippling of the cytoplasm, nuclear lobulation, and karyorrhexis. A small number of erythroblasts had also large autophagic vacuoles.The other blood series had no significant abnormalities.The diagnosis was established and during the next 2-year follow-up period the patient required blood transfusions every 3-4 months, while oral chelation therapy was started due to increased ferritin levels.
Archives of Hellenic Medicine. 01/2007; 24:636.