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Cellular discovery may lead to targeted treatment for rare form of anemia
Date:3/15/2009

CINCINNATIUniversity of Cincinnati (UC) researchers have identified the specific biological mechanisms believed to lead to a rare and incurable blood disease known as Diamond Blackfan anemia (DBA). Scientists say with further investigation, their discoveries could result in drastic changes to current thinking about treatment for this disease and may lead to promising new drug therapies.

George Thomas, PhD, Stefano Fumagalli, PhD, and collaborators report their findings online ahead of print in the journal Nature Cell Biology on Sunday, March 15, 2009. The research will also appear in the April print issue of the journal and is being presented at the 10th annual International Diamond Blackfan Anemia Consensus Conference in New York, which concludes Monday, March 16.

DBA is a rare blood disorder characterized by the bone marrow's failure to produce red blood cells. This failure is due to an intrinsic defect that makes the red blood cells prone to cell death before they mature. Red blood cells travel through the bloodstream to deliver oxygen to the body's tissues, which is critical to the health and proper function of all tissues.

According to the Centers for Disease Control and Prevention, approximately 25-35 new cases of DBA are diagnosed each year, with the majority of patients being identified before age 1. The most common treatments include blood transfusions and corticosteroids. The disease is characterized by extreme anemiawith a propensity to develop into leukemiaand often has no cure.

Using a preclinical laboratory model, Thomas' team was able to explain how cell death occurs in DBA and identified a specific step in the biological chain of events leading to disease onset where targeted medical intervention may effectively slowor even stopred blood cell death.

DBA has recently been attributed to a ribosomal protein defect that the UC team hypothesizes leads to abnormal activation of p53, causing premat
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Contact: Amanda J. Harper
amanda.harper@uc.edu
513-558-4657
University of Cincinnati
Source:Eurekalert

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