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

Intern Med. 2010;49(5):453-6. doi: 10.2169/internalmedicine.49.2991. Epub 2010 Mar 1.


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.

Publication types

  • Case Reports

MeSH terms

  • Anemia, Diamond-Blackfan / therapy*
  • Bone Marrow Transplantation*
  • Diabetes Mellitus / drug therapy
  • Diabetes Mellitus / etiology
  • Hemochromatosis / complications*
  • Hemochromatosis / etiology
  • Humans
  • Hypoglycemic Agents / therapeutic use
  • Insulin / therapeutic use
  • Male
  • Transfusion Reaction*
  • Transplantation, Homologous
  • Ventricular Dysfunction, Left / diagnosis
  • Ventricular Dysfunction, Left / etiology*
  • Young Adult


  • Hypoglycemic Agents
  • Insulin