Haema 2011; 2(2): 244-253
by Αntonis Kattamis1, Marina Oikonomou2, Alexandra Stamoulakatou3
1First Department of Pediatrics, Athens University, St. Sophia’s Children’s Hospital, Athens,
2First Department of Pediatrics, Aristotle University of Thessaloniki, Thessaloniki,
3Hematology Laboratory, St. Sophia’s Children’s Hospital, Athens
Abstract
Thalassemia Intermedia (TI) is a clinical condition, covering the space between the carriers and the transfusion-dependent patients with Thalassemia. Both clinically and genotypically, these patients have marked heterogeneity. TI is caused by a variety of combinations of molecular defects or/ and polymorphisms, which result into moderate/severe disturbance of the balance of production of alpha-and beta-chains of hemoglobin A. The basic pathogenetic mechanisms of the disease include the inefficient erythropoiesis, peripheral hemolysis and progressive iron overload due to excessive iron absorption from the gut. The hematological profile of the disease is characterized by hypochromic, microcytic anemia with characteristic abnormalities in the hematological indicator, which are dependent on the genetic basis. The treatment aims at the improvement of the anemia and in preventing and addressing the long-term complications, due to chronic anemia, increased erythropoiesis and iron overload. The transfusions in these patients must be given only when indicated. Splenectomy may improve the clinical picture, but is associated with increased risk of pulmonary hypertension and thromboembolic events.