Diamond-Blackfan Anemia

Recent findings from University of Nebraska highlight research in diamond-blackfan anemia

Published in Genetics and Environmental Law Weekly, November 14th, 2009

"Diamond-Blackfan anemia (DBA) is a congenital erythroid aplasia or hypoplasia presenting in infancy as a macrocytic anemia. It has been linked to a gene defect resulting in the absence of specific ribosomal proteins that enable erythroid maturation," scientists in the United States report.

"Treacher Collins syndrome is also associated with defective ribosomal biogenesis. Fifty percent of patients with DBA also present with additional physical abnormalities including growth delay, craniofacial abnormalities, upper limp abnormalities, cardiac defects, urogenital malformations, and cleft palate. Upper airway obstruction may be a complication from craniofacial disorders...

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Source: Genetics and Environmental Law Weekly (2009-11-14)

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