EXTRAMEDULLARY HEMATOPOIESIS IN BETA THALASSEMIA MAJOR - CASE PRESENTATION

A. Diaconu, B. I. Coculescu, O. Rizea, V. Herlea, H. Vultur

Abstract: Background. In beta thalassemia major, extramedullary erythropoiesis, defined by the occurrence of hematopoietic tissue sites outside of the hematogenic bone marrow, appears as a compensatory mechanism for ineffective erythropoiesis, suggesting an inadequate transfusion regimen (increased transfusion necessary or inadequate transfusion program). Methods. We present the case of a 19-year-old teenager who reflects severe complications due to an inappropriate transfusion and iron chelation regimen, with physical development retard, extramedullary hematopoiesis and global hemochromatosis (hepatic, cardiac and endocrinological). The diagnosis of hepatic extramedullary hematopoiesis was confirmed histopathological by ultrasound guided biopsy. Results. Under classical/conservative treatment, evolution was favorable, with satisfactory physical development, endocrine acquisitions and significant reductions from severe to mild global iron overload. Conclusions. In beta thalassemia major, both transfusion treatment for periodic correction of anemia and continuous iron chelation therapy to minimize post-transfusion secondary hemochromatosis are equally essential for the survival of these patients.
Keywords: beta thalassemia major, hepatic extramedullary hematopoiesis, severe secondary hemochromatosis