Treatment of transfusion iron overload in adult Diamond Blackfan anemia

Abstract

Background: Diamond Blackfan anemia (DBA) is a rare, genetically and clinically heterogeneous red cell aplasia with congenital anomalies and greater predisposition for cancer. DBA is a ribosomopathy, which is caused by gene mutations. Depending on gene expression, DBA is divided in »classical« DBA, but in last years there are more and more non classical patients (children and adults). With better medical treatment (glucocorticoids, stem cell transplantation, blood transfusions with chelation) the childhood disorder is evolving into adult disorder. In transfusion-dependent adult patients organ failure due to secondary hemochromatosis is the major medical problem. Case report: A 30-year old male patient with DBA, treated since childhood with transfusions and chelators, from 2007 with peroral chelator. We regularly perform examinations of organs (heart), but till now there have been no signs of iron overload organ damage. Conclusions: Beside regular applications of red blood cell transfusions, it is necessary to apply early chelation to avoid complications of severe iron overload and premature death as a consequence of organ failure. In the paper we present the necessary examinations and treatment with chelators.