Rare Disease Report

Diamond Blackfan Anemia Explained

APRIL 06, 2017
Thomas Winkler, M.D.

Thomas Winkler, M.D., staff clinician at NHLBI / NIH explains the pathophysiology and current management of diamond blackfan anemia.


Diamond Blackfan anemia is a very rare inherited disease. About one in a hundred thousand or one hundred two hundred thousand will be affected by Diamond Blackfan anemia. It usually presents within the first month of life with very severe anemia which basically means that these kids don't produce any red blood cells.
And if you look in the bone marrow, which is the place where we produce our blood, you will find that the stem cells that produce our red cells are markedly reduced and this is causing the anemia.
Diamond Blackfan anemia belongs to a larger group we call bone marrow failure syndromes which basically means that the bone marrow fails to produce blood cells. 
In addition to the aplastic anemia often seen in these patients, they may also have some congenital abnormalities present and there's a predisposition to cancer.
 Diamond Blackfan anemia treatment includes transfusions, otherwise these kids would not survive, but then there's a subgroup that respond to steroids actually and this is basically still the mainstay of treatment. The only curative treatment so far it's a bone marrow transplantation however bone marrow transplantation is associated with risk of other severe conditions that could arise from that so it's not a trivial procedure.

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