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Intern Med. 2010;49(5):453-6. Epub 2010 Mar 1.

Successful allogeneic bone marrow transplantation for diamond-blackfan anemia complicated by severe cardiac dysfunction due to transfusion-induced hemochromatosis.

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Department of Hematology and Clinical Immunology, Kobe City Medical Center General Hospital.


A 21-year-old man who was diagnosed with Diamond-Blackfan anemia at 2 years of age came to our hospital with the hope of undergoing bone marrow transplantation (BMT). He had been red cell transfusion-dependent for about 8 years; at presentation he had transfusion-induced hemochromatosis, a subsequent low left ventricular ejection fraction (LVEF) of 43%, and diabetes mellitus requiring insulin therapy. He received unrelated BMT with reduced intensity conditioning and sufficient GVHD prophylaxis. Regardless of the cardiac dysfunction, he had an uneventful course during pre- and post-grafting periods, and is currently doing well with an improved LVEF (55%), although he is still insulin dependent.

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