Improving clinical care and elucidating the pathophysiology of Diamond Blackfan anemia: an update from the Diamond Blackfan Anemia Registry.

@article{Lipton2006ImprovingCC,
  title={Improving clinical care and elucidating the pathophysiology of Diamond Blackfan anemia: an update from the Diamond Blackfan Anemia Registry.},
  author={Jeffrey M Lipton and Eva Atsidaftos and Israel Zyskind and Adrianna Vlachos},
  journal={Pediatric blood & cancer},
  year={2006},
  volume={46 5},
  pages={558-64}
}
Diamond Blackfan anemia (DBA) is a heterogeneous genetic disorder characterized by red cell aplasia, congenital anomalies, and a predisposition to cancer. Although incompletely understood, the erythroid failure in DBA appears to result from the accelerated apoptosis of affected erythroid progenitors/precursors. One of what appears to be multiple DBA genes, coding for a ribosomal protein RPS 19, has been cloned. Even within multiplex families individuals may vary dramatically as to the degree of… CONTINUE READING
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