Hepcidin levels in Diamond-Blackfan anemia reflect erythropoietic activity and transfusion dependency
2014
Abstrakt
Diamond-Blackfan anemia (DBA) is a rare congenital red cell aplasia associated with mutations in ribosomal proteins (RP) in 49-71% of cases. DBA is a clinically heterogeneous disorder with one-third of patients developing transfusion-acquired iron overload.
The severity of anemia and transfusion dependency in DBA is comparable to transfusion-dependent beta-thalassemia major; however, moderate to severe suppression of erythropoiesis in DBA is in contrast to accelerated ineffective erythropoiesis in beta-thalassemia. The knowledge of systemic iron regulation in DBA is limited.