Ontology highlight
ABSTRACT:
SUBMITTER: Da Costa L
PROVIDER: S-EPMC3699172 | biostudies-literature | 2010 Sep
REPOSITORIES: biostudies-literature
Da Costa L L Moniz H H Simansour M M Tchernia G G Mohandas N N Leblanc T T
Transfusion clinique et biologique : journal de la Societe francaise de transfusion sanguine 20100723 3
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 ce ...[more]