Diamond-Blackfan anemia, ribosome and erythropoiesis

L Da Costa, H Moniz, M Simansour, G Tchernia… - Transfusion clinique et …, 2010 - Elsevier
Diamond-Blackfan anemia is a rare inherited bone marrow failure syndrome (five to seven
cases per million live births) characterized by an aregenerative, usually macrocytic anemia
with an absence or less than 5% of erythroid precursors (erythroblastopenia) in an otherwise
normal bone marrow. The platelet and the white cell counts are usually normal but
neutropenia, thrombopenia or thrombocytosis have been noted at diagnosis. In 40 to 50% of
DBA patients, congenital abnormalities mostly in the cephalic area and in thumbs and upper …