Non transfusion dependent thalassaemia: conventional and novel therapy

Abstract

This literature review attempts to describe modern approaches to the diagnosis and therapy of non transfusion dependent thalassaemia (NTDT). NTDT has a wide clinical spectrum. The clinical polymorphism of the disease is due to genetic heterogeneity. There are three major factors, which are responsible for the clinical manifestations of NTDT: ineffective erythropoiesis, chronic anemia, and iron overload. Untreated NTDT is the cause of various complications: splenomegaly, gallstones, extramedullary erythropoiesis, kidney stones, lower limbs trophic ulcers, thrombophilia, pulmonary hypertension, endocrine complications, iron overload, bone abnormalities, osteoporosis. Traditional therapy for NTDT include splenectomy, transfusion therapy, stimulation of fetal hemoglobin (HbF) synthesis, and bone marrow transplantation. However, due to the limitations and challenges associated with available conventional therapies, novel methods are currently being developed. These include: JAK2 inhibition, hepcidin modulation, TMPRSS6 inhibition, apo-transferrin, HIF2 inhibition, Activin receptor-II trap ligands, ferroportin inhibitors.