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Diamond-Blackfan syndrome |
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Diamond-Blackfan syndrome, a rare congenital disorder evident in the first 3 months of life, characterized by severe anemia and a very low reticulocyte count but normal numbers of platelets and white cells. It is caused by a deficiency of erythrocyte precursors. Also called congenital hypoplastic anemia. See also anemia. Diamond-Blackfan syndrome Congenital hypoplastic anemia Hematology An AR, occasionally consanguineous condition associated with pure red cell aplasia of early infancy onset with anemia, pallor, failure to thrive; 30% have minor physical
abnormalities–eg short stature, thumb deformities, ocular changes Treatment Transfusion, corticosteroids, BMT, growth factor therapy How to thank TFD for its existence? Tell a friend about us, add a link to this page, add the site to iGoogle, or visit webmaster's page for free fun content. |
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The mild anemia seen in these mice and in some humans with Diamond-Blackfan syndrome may be due to mild activation of p53. |
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