Hematological malignancies complicating β-thalassemia syndromes: a single center experience
A 13-year-old girl with β-thalassemia intermedia was referred to our clinic due to hyperleukocytosis (WBC: 154,000/mm3). She was receiving hydroxyurea since 8 years of age and had been kept transfusion independent.\nAt presentation she had Hb 8.5-9 gr/dL, MCV 78 fL and MCH 20 pg. Hemoglobin electrophoresis revealed HbA 45%, HbF 51% and HbA2 4%. Spleen was palpated about 4cm below costal margin. Splenomegaly was evident as it was before. Due to the persistence of hyperleukocytosis (WBC: 50,000-150,000/mm3) and aggravation of anemia, a bone marrow aspiration was performed which showed hypercellular marrow with increased myeloid to erythroid ratio. Significant degrees of reticulin stain-measured fibrosis were noted accompanying marrow eosinophilia. The histopathological findings were in favor of chronic myelogenous leukemia (CML). Real time polymerase chain reaction examination for the detection of BCR-ABL translocation on bone marrow aspirate revealed positive reaction for 342 bp amplified product compatible with t(9;22)(q34;q11.2) translocation (Philadelphia chromosome). Treatment with Imatinib mesylate (Gleevec) was started at a dosage of 400 mg/day; however, she developed accelerated blastic crisis and proceeded towards acute myeloid leukemia (AML) and did not respond to chemotherapy regimens and thus died about 3 months after diagnosis.