Rare Disease Report

Eltrombopag and Diamond Blackfan Amenia

APRIL 04, 2017
Thomas Winkler, M.D.


Thomas Winkler, M.D., staff clinician at NHLBI / NIH talks about the use of eltrombopag to possibly treat diamond blackfan anemia.


Winker T, Townsley D, Desmond R, et al. Successful treatment of a diamond-blackfan anemia (DBA) patient with eltrombopag. Presented at 58th Annual ASH Meeting and Exposition; San Diego, CA; December 3-6, 2017. Abstract 2682


At the NHLBI, our research focuses on bone marrow failure syndromes and over the past eight years we found that eltrombopag be very efficient in the treatment of patients with various conditions.
eltrombopag is a mimetic of an endogenous blood growth factor called thrombopoietin that is important for platelet production but it's also important for maintaining stem cells.  It was initially FDA approved for the treatment of a condition called ITP this is where the body destroys their own platelets.
The patient case study I presented at ASH is a patient with diamond blackfan anemia and she developed what we call pancytopenia which is not what usually happens in diamond blackfan anemia. She had a gradual reduction in all her blood cells. The patient failed steroid therapy and she had failed other experimental therapies so we decided to try eltrombopag because it also works in other bone marrow failure syndromes. Luckily, it worked. She recovered her blood cell counts and is transfusion independent. We stopped the drug and what happened was a drop in blood counts again which makes us believe the eltromobopag is specifically acting on stem cells.
We now have her on the lower dose and her blood count remain stable and she's transfusion independent.

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