Bone marrow transplantation in thalassemia

Abstract

Thalassemia refers to various types of hereditary anemias identified by a reduced production of one of the globin chains that form the hemoglobin molecule [1]. In β-thalassemia, there is a deficient or absent synthesis of β-globin chains that constitute the adult hemoglobin molecule, which causes several deleterious effects on erythrocyte production and survival. Hemolysis and ineffective erythropoiesis lead to a chronic anemia with erythroid marrow hyperplasia; this determines an increase in the plasma iron turnover and, consequently, increased iron absorption. A progressive iron overload is associated with the above mechanism and is the consequence of the red cell transfusional regimen adopted to correct the anemia. Transfusions and regular iron chelation with deferoxamine constitute the conventional treatment for severe β-thalassemia. Homozygous thalassemia, which once resulted in early death, has become a chronic disease compatible with prolonged survival [2,3], although it remains a progressive disease.