The Thalassemia Syndromes: New Insights

Abstract

Thalassemia is characterized by impaired synthesis of globin chains in hemoglobin. Supportive care for this condition includes regular transfusions and adequate iron chelation. Hemopoietic stem cell transplant (HSCT) is the only curative option available at present to most of the patients. The currently accepted indication for allogenic HSCT is transfusion dependency. For patients with available HLA-matched siblings or related or unrelated donors, a transplant should be offered as soon as possible to avoid transfusion-associated complications. The three risk factors are the presence of hepatomegaly >2 cm, the presence of liver/portal fibrosis and a history of inadequate chelation. Stem cells for HSCT can be obtained from bone marrow, peripheral blood and cord blood. In the majority, all the transplant centres across the world use bone marrow as a stem cell source as it is associated with a lesser incidence of GVHD (especially chronic) as compared to peripheral blood because of the high concentration of T lymphocytes in the latter. Conditioning regimen is being evolved from myeloablative to reduced intensity conditioning to reduced toxicity myeloablative conditioning regimens. Post-transplant management includes monitoring of engraftment and chimerism. It also aims at infection prophylaxis, prevention of GVHD, hematopoietic support and management of iron overload post-transplant.